Hakon Hakonarson, MD, PhD

Hakon Hakonarson, MD, PhD

Hakon Hakonarson, MD, PhD, is the Director of the Center for Applied Genomics at the The Joseph Stokes Jr. Research Institute of Children's Hospital of Philadelphia.

Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

Medical School

MD - University of Iceland, School of Medicine, Reykjavík, Iceland

Internship

Pediatrics - University of Connecticut Health Center, Farmington, CT
Surgery and Pediatrics - St. Josephs Hospital School of Medicine, Reykjavik, Iceland

Residency

Pediatrics - University of Connecticut Health Center, Farmington, CT
Medicine, Surgery and Pediatrics - St. Josephs Hospital School of Medicine, Reykjavik, Iceland
Obstetric/Gynecology - National Hospital, School of Medicine, Reykjavik, Iceland

Fellowship

Pediatric Pulmonary Medicine - The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA

Board Certification

Pediatric Pulmonology
Pediatrics

Graduate Degree

PhD - University of Iceland, School of Medicine, Reykjavík, Iceland

Titles and Academic Titles

Director, Center for Applied Genomics

Investigator, The Joseph Stokes, Jr. Research Institute

Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

Publications

Papers

2017

Yilmaz Z, Kaplan AS, Tiwari AK, Levitan RD, Piran S, Bergen AW, Kaye WH, Hakonarson H, Wang K, Berrettini WH, Brandt HA, Bulik CM, Crawford S, Crow S, Fichter MM, Halmi KA, Johnson CL, Keel PK, Klump KL, Magistretti P, Mitchell JE, Strober M, Thornton LM, Treasure J, Woodside DB, Knight J, Kennedy JL.: The role of leptin, melanocortin, and neurotrophin system genes on body weight in anorexia nervosa and bulimia nervosa.    J Psychiatr Res. Page: 77-86, Aug 2017.

2016

Kim D, Lucas A, Glessner J, Verma SS, Bradford Y, Li R, Frase AT, Hakonarson H, Peissig P, Brilliant M, Ritchie MD.: BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN.   Pac Symp Biocomput. Page: 357-68, 2016.

Santoro ML, Moretti PN, Pellegrino R, Gadelha A, Abílio VC, Hayashi MA, Belangero SI, Hakonarson H.: A current snapshot of common genomic variants contribution in psychiatric disorders.    Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):997-1005. doi: 10.1002/ajmg.b.32475. Epub 2016 Aug 3.

Pourcain BS, Haworth CM, Davis OS, Wang K, Timpson NJ, Evans DM, Kemp JP, Ronald A, Price T, Meaburn E, Ring SM, Golding J, Hakonarson H, Plomin R, Smith GD.: Erratum to: Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence.    Hum Genet. 2016 Aug;135(8):965. doi: 10.1007/s00439-016-1695-1.

Li D, Achkar JP, Haritunians T, Jacobs JP, Hui KY, D'Amato M, Brand S, Radford-Smith G, Halfvarson J, Niess JH, Kugathasan S, Büning C, Schumm LP, Klei L, Ananthakrishnan A, Aumais G, Baidoo L, Dubinsky M, Fiocchi C, Glas J, Milgrom R, Proctor DD, Regueiro M, Simms LA, Stempak JM, Targan SR, Törkvist L, Sharma Y, Devlin B, Borneman J, Hakonarson H, Xavier RJ, Daly M, Brant SR, Rioux JD, Silverberg MS, Cho JH, Braun J, McGovern DP, Duerr RH. : A pleiotropic missense variant in SLC39A8 is associated with Crohn's disease and human gut microbiome composition.  Gastroenterology. 2016 Oct;151(4):724-32. doi: 10.1053/j.gastro.2016.06.051. Epub 2016 Aug 1.

Lingren T, Chen P, Bochenek J, Doshi-Velez F, Manning-Courtney P, Bickel J, Wildenger Welchons L, Reinhold J, Bing N, Ni Y, Barbaresi W, Mentch F, Basford M, Denny J, Vazquez L, Perry C, Namjou B, Qiu H, Connolly J, Abrams D, Holm IA, Cobb BA, Lingren N, Solti I, Hakonarson H, Kohane IS, Harley J, Savova G. : Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder. PLoS One. 2016 Jul 29;11(7):e0159621. doi: 10.1371/journal.pone.0159621. eCollection 2016.

Li J, Wei Z, Chang X, Cardinale CJ, Kim CE, Baldassano RN, Hakonarson H; International IBD Genetics Consortium.: Pathway-based Genome-wide Association Studies Reveal the Association Between Growth Factor Activity and Inflammatory Bowel Disease. Inflamm Bowel Dis. 2016 Jul;22(7):1540-51. doi: 10.1097/MIB.0000000000000785.

Chuang LS, Villaverde N, Hui KY, Mortha A, Rahman A, Levine AP, Haritunians T, Ng SM, Zhang W, Hsu NY, Facey JA, Luong T, Fernandez-Hernandez H, Li D, Rivas M, Schiff ER, Gusev A, Schumm LP, Bowen BM, Sharma Y, Ning K, Remark R, Gnjatic S, Legnani P, George J, Sands BE, Stempak JM, Datta LW, Lipka S, Katz S, Cheifetz AS, Barzilai N, Pontikos N, Abraham C, Dubinsky MJ, Targan S, Taylor K, Rotter JI, Scherl EJ, Desnick RJ, Abreu MT, Zhao H, Atzmon G, Pe'er I, Kugathasan S, Hakonarson H, McCauley JL, Lencz T, Darvasi A, Plagnol V, Silverberg MS, Muise AM, Brant SR, Daly MJ, Segal AW, Duerr RH, Merad M, McGovern DP, Peter I, Cho JH.  : A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GMCSF. Gastroenterology. 2016 Oct;151(4):710-723.e2. doi: 10.1053/j.gastro.2016.06.045. Epub 2016 Jul 1.

Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA.: SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.   Am J Med Genet A. 2016 Aug;170(8):1967-73. doi: 10.1002/ajmg.a.37722. Epub 2016 Jun 5.

Prins BP, Abbasi A, Wong A, Vaez A, Nolte I, Franceschini N, Stuart PE, Guterriez Achury J, Mistry V, Bradfield JP, Valdes AM, Bras J, Shatunov A; PAGE Consortium; International Stroke Genetics Consortium; Systemic Sclerosis consortium; Treat OA consortium; DIAGRAM Consortium; CARDIoGRAMplusC4D Consortium; ALS consortium; International Parkinson's Disease Genomics Consortium; Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium; CKDGen consortium; GERAD1 Consortium; International Consortium for Blood Pressure; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Inflammation Working Group of the CHARGE Consortium, Lu C, Han B, Raychaudhuri S, Bevan S, Mayes MD, Tsoi LC, Evangelou E, Nair RP, Grant SF, Polychronakos C, Radstake TR, van Heel DA, Dunstan ML, Wood NW, Al-Chalabi A, Dehghan A, Hakonarson H, Markus HS, Elder JT, Knight J, Arking DE, Spector TD, Koeleman BP, van Duijn CM, Martin J, Morris AP, Weersma RK, Wijmenga C, Munroe PB, Perry JR, Pouget JG, Jamshidi Y, Snieder H, Alizadeh BZ.: Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study. PLoS Med. 2016 Jun 21;13(6):e1001976. doi: 10.1371/journal.pmed.1001976. eCollection 2016 Jun.

Pourcain BS, Haworth CM, Davis OS, Wang K, Timpson NJ, Evans DM, Kemp JP, Ronald A, Price T, Meaburn E, Ring SM, Golding J, Hakonarson H, Plomin R, Smith GD.: Erratum to: Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence. Hum Genet. 2016 Aug;135(8):965. doi: 10.1007/s00439-016-1695-1.

Nafisinia M, Guo Y, Dang X, Li J, Chen Y, Zhang J, Lake NJ, Gold WA, Riley LG, Thorburn DR, Keating B, Xu X, Hakonarson H, Christodoulou J.: Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.   JIMD Rep. 2017;32:117-124. doi: 10.1007/8904_2016_541. Epub 2016 Jun 26.

Li J, Wei Z, Li YR, Maggadottir SM, Chang X, Desai A, Hakonarson H.: Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches.  Biochim Biophys Acta. 2016 Nov;1860(11 Pt B):2656-63. doi: 10.1016/j.bbagen.2016.06.014. Epub 2016 Jun 15.

Eichler FS, Li J, Guo Y, Caruso PA, Bjonnes AC, Pan J, Booker JK, Lane JM, Tare A, Vlasac I,Hakonarson H, Gusella JF, Zhang J, Keating BJ, Saxena R.: CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.  Brain. 2016 Jun;139(Pt 6):1666-72. doi: 10.1093/brain/aww066. Epub 2016 May 5.

Lima Lde A, Feio-Dos-Santos AC, Belangero SI, Gadelha A, Bressan RA, Salum GA, Pan PM, Moriyama TS, Graeff-Martins AS, Tamanaha AC, Alvarenga P, Krieger FV, Fleitlich-Bilyk B, Jackowski AP, Brietzke E, Sato JR, Polanczyk GV, Mari Jde J, Manfro GG, do Rosário MC, Miguel EC, Puga RD, Tahira AC, Souza VN, Chile T, Gouveia GR, Simões SN, Chang X, Pellegrino R, Tian L, Glessner JT, Hashimoto RF, Rohde LA, Sleiman PM, Hakonarson H, Brentani H. : Corrigendum: An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. Sci Rep. 2016 May 24;6:25861. doi: 10.1038/srep25861.

Hinney A, Kesselmeier M, Jall S, Volckmar AL, Föcker M, Antel J; GCAN; WTCCC3, Heid IM, Winkler TW; GIANT, Grant SF; EGG, Guo Y, Bergen AW, Kaye W, Berrettini W, Hakonarson H; Price Foundation Collaborative Group; Children's Hospital of Philadelphia/Price Foundation, Herpertz-Dahlmann B, de Zwaan M, Herzog W, Ehrlich S, Zipfel S, Egberts KM, Adan R, Brandys M, van Elburg A, Boraska Perica V, Franklin CS, Tschöp MH, Zeggini E, Bulik CM, Collier D, Scherag A, Müller TD, Hebebrand J.: Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index. Mol Psychiatry. 2017 Feb;22(2):192-201. doi: 10.1038/mp.2016.71. Epub 2016 May 17.

Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, Kim CE, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Heagerty PJ, Hakonarson H, Gaynor JW, Jarvik GP.: Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival.  J Thorac Cardiovasc Surg. Page: 1147-1151, Apr 2016.

Gadelha A, Coleman J, Breen G, Mazzoti DR, Yonamine CM, Pellegrino R, Ota VK, Belangero SI, Glessner J, Sleiman P, Hakonarson H, Hayashi MA, Bressan RA.: Genome-wide investigation of schizophrenia associated plasma Ndel1 enzyme activity.   Schizophr Res. Page: 60-7, Apr 2016.

Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, Zhou H, Tian L, Prakash O, Lemire M, Sleiman P, Cheng WY, Chen W, Shah H, Shen Y, Fromer M, Omberg L, Deardorff MA, Zackai E, Bobe JR, Levin E, Hudson TJ, Groop L, Wang J, Hakonarson H, Wojcicki A, Diaz GA, Edelmann L, Schadt EE, Friend SH. : Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. .  Nat Biotechnol Apr 2016.

Bhoj EJ, Li D, Harr M, Edvardson S, Elpeleg O, Chisholm E, Juusola J, Douglas G, Guillen Sacoto MJ, Siquier-Pernet K, Saadi A, Bole-Feysot C, Nitschke P, Narravula A, Walke M, Horner MB, Day-Salvatore DL, Jayakar P, Vergano SA, Tarnopolsky MA, Hegde M, Colleaux L, Crino P, Hakonarson H.: Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.  Am J Hum Genet.  Page: 782-8, Apr 2016.

de Araújo Lima L, Feio-Dos-Santos AC, Belangero SI, Gadelha A, Bressan RA, Salum GA, Pan PM, Moriyama TS, Graeff-Martins AS, Tamanaha AC, Alvarenga P, Krieger FV, Fleitlich-Bilyk B, Jackowski AP, Brietzke E, Sato JR, Polanczyk GV, Mari Jde J, Manfro GG, do Rosário MC, Miguel EC, Puga RD, Tahira AC, Souza VN, Chile T, Gouveia GR, Simões SN, Chang X, Pellegrino R, Tian L, Glessner JT, Hashimoto RF, Rohde LA, Sleiman PM, Hakonarson H, Brentani H.: An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder.   Sci Rep. Mar 2016.

Tyrrell J, Richmond RC, Palmer TM, Feenstra B, Rangarajan J, Metrustry S, Cavadino A, Paternoster L, Armstrong LL, De Silva NM, Wood AR, Horikoshi M, Geller F, Myhre R, Bradfield JP, Kreiner-Møller E, Huikari V, Painter JN, Hottenga JJ, Allard C, Berry DJ, Bouchard L, Das S, Evans DM, Hakonarson H, Hayes MG, Heikkinen J, Hofman A, Knight B, Lind PA, McCarthy MI, McMahon G, Medland SE, Melbye M, Morris AP, Nodzenski M, Reichetzeder C, Ring SM, Sebert S, Sengpiel V, Sørensen TI, Willemsen G, de Geus EJ, Martin NG, Spector TD, Power C, Järvelin MR, Bisgaard H, Grant SF, Nohr EA, Jaddoe VW, Jacobsson B, Murray JC, Hocher B, Hattersley AT, Scholtens DM, Davey Smith G, Hivert MF, Felix JF, Hyppönen E, Lowe WL Jr, Frayling TM, Lawlor DA, Freathy RM; Early Growth Genetics (EGG) Consortium.: Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight.   JAMA. Page: 1129-40, Mar  2016.

Satterthwaite TD, Wolf DH, Calkins ME, Vandekar SN, Erus G, Ruparel K, Roalf DR, Linn KA, Elliott MA, Moore TM, Hakonarson H, Shinohara RT, Davatzikos C, Gur RC, Gur RE.: Structural Brain Abnormalities in Youth With Psychosis Spectrum Symptoms.   JAMA Psychiatry. Mar 2016.

Ridge PG, Hoyt KB, Boehme K, Mukherjee S, Crane PK, Haines JL, Mayeux R, Farrer LA, Pericak-Vance MA, Schellenberg GD, Kauwe JS; Alzheimer's Disease Genetics Consortium (ADGC). : Assessment of the genetic variance of late-onset Alzheimer's disease.   Neurobiol Aging. Mar 2016.

Netter P, Chan SK, Banerjee PP, Monaco-Shawver L, Noroski LM, Hanson IC, Forbes LR, Mace EM, Chinen J, Gaspar HB, Sleiman P, Hakonarson H, Klein C, Ehlayel MS, Orange JS.: A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.   J Allergy Clin Immunol. Mar 2016.

Li D, Tian L, Hou C, Kim CE, Hakonarson H, Levine MA.: Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter with Neonatal Primary Hyperparathyroidism.   J Clin Endocrinol Metab. Mar 2016.

Li D, Bhoj E, McCormick E, Wang F, Snyder J, Wang T, Zhao Y, Kim C, Chiavacci R, Tian L, Falk MJ, Hakonarson H.: Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.    Case Rep Genet. Mar 2016.

Keller MD, Pandey R, Li D, Glessner J, Tian L, Henrickson SE, Chinn IK, Monaco-Shawver L, Heimall J, Hou C, Otieno FG, Jyonouchi S, Calabrese L, van Montfrans J, Orange JS, Hakonarson H.: Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.  J Allergy Clin Immunol.  Mar 2016.

Finkel TH, Li J, Wei Z, Wang W, Zhang H, Behrens EM, Reuschel EL, Limou S, Wise C, Punaro M, Becker ML, Munro JE, Flatø B, Førre Ø, Thompson SD, Langefeld CD, Glass DN, Glessner JT, Kim CE, Frackelton E, Shivers DK, Thomas KA, Chiavacci RM, Hou C, Xu K, Snyder J, Qiu H, Mentch F, Wang K, Winkler CA, Lie BA, Ellis JA, Hakonarson H.: Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility.   BMC Med Genet. Mar 2016.

Cofer ZC, Cui S, EauClaire SF, Kim C, Tobias JW, Hakonarson H, Loomes KM, Matthews RP.: Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia.   PLoS One. Mar 2016.

Prieto-Pérez R, Almoguera B, Cabaleiro T, Hakonarson H, Abad-Santos F. : Association between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel Disease.   Int J Mol Sci. Feb 2016.

Ningappa M, Ashokkumar C, Higgs BW, Sun Q, Jaffe R, Mazariegos G, Li D, Weeks DE, Subramaniam S, Ferrell R, Hakonarson H, Sindhi R.: Enhanced B Cell Alloantigen Presentation and Its Epigenetic Dysregulation in Liver Transplant Rejection.   Am J Transplant. Feb 2016.

Keenan T, Zhao W, Rasheed A, Ho WK, Malik R, Felix JF, Young R, Shah N, Samuel M, Sheikh N, Mucksavage ML, Shah O, Li J, Morley M, Laser A, Mallick NH, Zaman KS, Ishaq M, Rasheed SZ, Memon FU, Ahmed F, Hanif B, Lakhani MS, Fahim M, Ishaq M, Shardha NK, Ahmed N, Mahmood K, Iqbal W, Akhtar S, Raheel R, O'Donnell CJ, Hengstenberg C, März W, Kathiresan S, Samani N, Goel A, Hopewell JC, Chambers J, Cheng YC, Sharma P, Yang Q, Rosand J, Boncoraglio GB, Kazmi SU, Hakonarson H, Köttgen A, Kalogeropoulos A, Frossard P, Kamal A, Dichgans M, Cappola T, Reilly MP, Danesh J, Rader DJ, Voight BF, Saleheen D. : Causal Assessment of Serum Urate Levels in Cardiometabolic Diseases Through a Mendelian Randomization Study.   J Am Coll Cardiol. Page: 407-16, Feb 2016.

Karch CM, Ezerskiy LA, Bertelsen S; Alzheimer's Disease Genetics Consortium (ADGC), Goate AM. : Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci.   PLoS One. Feb 2016.

Desai A, Connolly JJ, March M, Hou C, Chiavacci R, Kim C, Lyon G, Hadley D, Hakonarson H.: Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.   BMC Musculoskelet Disord. Feb 2016.

Bush WS, Crosslin DR, Obeng AO, Wallace J, Almoguera B, Basford MA, Bielinski SJ, Carrell DS, Connolly JJ, Crawford D, Doheny KF, Gallego CJ, Gordon AS, Keating B, Kirby J, Kitchner T, Manzi S, Mejia AR, Pan V, Perry CL, Peterson JF, Prows CA, Ralston J, Scott SA, Scrol A, Smith M, Stallings SC, Veldhuizen T, Wolf W, Volpi S, Wiley K, Li R, Manolio T, Bottinger E, Brilliant MH, Carey D, Chisholm RL, Chute CG, Haines JL, Hakonarson H, Harley JB, Holm IA, Kullo IJ, Jarvik GP, Larson EB, McCarty CA, Williams MS, Denny JC, Rasmussen-Torvik LJ, Roden DM, Ritchie MD. : Genetic Variation among 82 Pharmacogenes: the PGRN-Seq data from the eMERGE Network.   Clin Pharmacol Ther. Feb 2016.

Wenger TL, Kao C, McDonald-McGinn DM, Zackai EH, Bailey A, Schultz RT, Morrow BE, Emanuel BS, Hakonarson H.: The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.   Sci Rep. Jan 2016.

Van Driest SL, Wells QS, Stallings S, Bush WS, Gordon A, Nickerson DA, Kim JH, Crosslin DR, Jarvik GP, Carrell DS, Ralston JD, Larson EB, Bielinski SJ, Olson JE, Ye Z, Kullo IJ, Abul-Husn NS, Scott SA, Bottinger E, Almoguera B, Connolly J, Chiavacci R, Hakonarson H, Rasmussen-Torvik LJ, Pan V, Persell SD, Smith M, Chisholm RL, Kitchner TE, He MM, Brilliant MH, Wallace JR, Doheny KF, Shoemaker MB, Li R, Manolio TA, Callis TE, Macaya D, Williams MS, Carey D, Kapplinger JD, Ackerman MJ, Ritchie MD, Denny JC, Roden DM.: Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.  JAMA.  Page: 47-57, Jan 2016.

Shanmugan S, Wolf DH, Calkins ME, Moore TM, Ruparel K, Hopson RD, Vandekar SN, Roalf DR, Elliott MA, Jackson C, Gennatas ED, Leibenluft E, Pine DS, Shinohara RT, Hakonarson H, Gur RC, Gur RE, Satterthwaite TD. : Common and Dissociable Mechanisms of Executive System Dysfunction Across Psychiatric Disorders in Youth.   Am J Psychiatry. Jan 2016.

Roalf DR, Quarmley M, Elliott MA, Satterthwaite TD, Vandekar SN, Ruparel K, Gennatas ED, Calkins ME, Moore TM, Hopson R, Prabhakaran K, Jackson CT, Verma R, Hakonarson H, Gur RC, Gur RE.: The impact of quality assurance assessment on diffusion tensor imaging outcomes in a large-scale population-based cohort.  Neuroimage. Jan 2016.

Pattaro C, Teumer A, Gorski M, Chu AY, Li M, Mijatovic V, Garnaas M, Tin A, Sorice R, Li Y, Taliun D, Olden M, Foster M, Yang Q, Chen MH, Pers TH, Johnson AD, Ko YA, Fuchsberger C, Tayo B, Nalls M, Feitosa MF, Isaacs A, Dehghan A, d'Adamo P, Adeyemo A, Dieffenbach AK, Zonderman AB, Nolte IM, van der Most PJ, Wright AF, Shuldiner AR, Morrison AC, Hofman A, Smith AV, Dreisbach AW, Franke A, Uitterlinden AG, Metspalu A, Tonjes A, Lupo A, Robino A, Johansson Å, Demirkan A, Kollerits B, Freedman BI, Ponte B, Oostra BA, Paulweber B, Krämer BK, Mitchell BD, Buckley BM, Peralta CA, Hayward C, Helmer C, Rotimi CN, Shaffer CM, Müller C, Sala C, van Duijn CM, Saint-Pierre A, Ackermann D, Shriner D, Ruggiero D, Toniolo D, Lu Y, Cusi D, Czamara D, Ellinghaus D, Siscovick DS, Ruderfer D, Gieger C, Grallert H, Rochtchina E, Atkinson EJ, Holliday EG, Boerwinkle E, Salvi E, Bottinger EP, Murgia F, Rivadeneira F, Ernst F, Kronenberg F, Hu FB, Navis GJ, Curhan GC, Ehret GB, Homuth G, Coassin S, Thun GA, Pistis G, Gambaro G, Malerba G, Montgomery GW, Eiriksdottir G, Jacobs G, Li G, Wichmann HE, Campbell H, Schmidt H, Wallaschofski H, Völzke H, Brenner H, Kroemer HK, Kramer H, Lin H, Mateo Leach I, Ford I, Guessous I, Rudan I, Prokopenko I, Borecki I, Heid IM, Kolcic I, Persico I, Jukema JW, Wilson JF, Felix JF, Divers J, Lambert JC, Stafford JM, Gaspoz JM, Smith JA, Faul JD, Wang JJ, Ding J, Hirschhorn JN, Attia J, Whitfield JB, Chalmers J, Viikari J, Coresh J, Denny JC, Karjalainen J, Fernandes JK, Endlich K, Butterbach K, Keene KL, Lohman K, Portas L, Launer LJ, Lyytikäinen LP, Yengo L, Franke L, Ferrucci L, Rose LM, Kedenko L, Rao M, Struchalin M, Kleber ME, Cavalieri M, Haun M, Cornelis MC, Ciullo M, Pirastu M, de Andrade M, McEvoy MA, Woodward M, Adam M, Cocca M, Nauck M, Imboden M, Waldenberger M, Pruijm M, Metzger M, Stumvoll M, Evans MK, Sale MM, Kähönen M, Boban M, Bochud M, Rheinberger M, Verweij N, Bouatia-Naji N, Martin NG, Hastie N, Probst-Hensch N, Soranzo N, Devuyst O, Raitakari O, Gottesman O, Franco OH, Polasek O, Gasparini P, Munroe PB, Ridker PM, Mitchell P, Muntner P, Meisinger C, Smit JH; ICBP Consortium; AGEN Consortium; CARDIOGRAM; CHARGe-Heart Failure Group; ECHOGen Consortium, Kovacs P, Wild PS, Froguel P, Rettig R, Mägi R, Biffar R, Schmidt R, Middelberg RP, Carroll RJ, Penninx BW, Scott RJ, Katz R, Sedaghat S, Wild SH, Kardia SL, Ulivi S, Hwang SJ, Enroth S, Kloiber S, Trompet S, Stengel B, Hancock SJ, Turner ST, Rosas SE, Stracke S, Harris TB, Zeller T, Zemunik T, Lehtimäki T, Illig T, Aspelund T, Nikopensius T, Esko T, Tanaka T, Gyllensten U, Völker U, Emilsson V, Vitart V, Aalto V, Gudnason V, Chouraki V, Chen WM, Igl W, März W, Koenig W, Lieb W, Loos RJ, Liu Y, Snieder H, Pramstaller PP, Parsa A, O'Connell JR, Susztak K, Hamet P, Tremblay J, de Boer IH, Böger CA, Goessling W, Chasman DI, Köttgen A, Kao WH, Fox CS.: Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.   Nat Commun. Jan 2016.

Matera I, Rusmini M, Guo Y, Lerone M, Li J, Zhang J, Di Duca M, Nozza P, Mosconi M, Prato AP, Martucciello G, Barabino A, Morandi F, De Giorgio R, Stanghellini V, Ravazzolo R, Devoto M, Hakonarson H, Ceccherini I. : Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.  Eur J Hum Genet. Jan 2016.

Liu Y, Li Y, March ME, Nguyen K, Xu K, Wang F, Guo Y, Keating B, Glessner J, Li J, Ganley TJ, Zhang J, Deardorff MA, Xu X, Hakonarson H.: Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.   Hum Genomics. Jan 2016.

Guo Y, Wei Z, Keating BJ; Genetic Consortium for Anorexia Nervosa; Wellcome Trust Case Control Consortium 3; Price Foundation Collaborative Group, Hakonarson H.: Machine learning derived risk prediction of anorexia nervosa. BMC Med Genomics.  BMC Med Genomics.  Jan 2016.

Felix JF, Bradfield JP, Monnereau C, van der Valk RJ, Stergiakouli E, Chesi A, Gaillard R, Feenstra B, Thiering E, Kreiner-Møller E, Mahajan A, Pitkänen N, Joro R, Cavadino A, Huikari V, Franks S, Groen-Blokhuis MM, Cousminer DL, Marsh JA, Lehtimäki T, Curtin JA, Vioque J, Ahluwalia TS, Myhre R, Price TS, Vilor-Tejedor N, Yengo L, Grarup N, Ntalla I, Ang W, Atalay M, Bisgaard H, Blakemore AI, Bonnefond A, Carstensen LBone Mineral Density in Childhood Study (BMDCS); Early Genetics and Lifecourse Epidemiology (EAGLE) consortium, Eriksson J, Flexeder C, Franke L, Geller F, Geserick M, Hartikainen AL, Haworth CM, Hirschhorn JN, Hofman A, Holm JC, Horikoshi M, Hottenga JJ, Huang J, Kadarmideen HN, Kähönen M, Kiess W, Lakka HM, Lakka TA, Lewin AM, Liang L, Lyytikäinen LP, Ma B, Magnus P, McCormack SE, McMahon G, Mentch FD, Middeldorp CM, Murray CS, Pahkala K, Pers TH, Pfäffle R, Postma DS, Power C, Simpson A, Sengpiel V, Tiesler CM, Torrent M, Uitterlinden AG, van Meurs JB, Vinding R, Waage J, Wardle J, Zeggini E, Zemel BS, Dedoussis GV, Pedersen O, Froguel P, Sunyer J, Plomin R, Jacobsson B, Hansen T, Gonzalez JR, Custovic A, Raitakari OT, Pennell CE, Widén E, Boomsma DI, Koppelman GH, Sebert S, Järvelin MR, Hyppönen E, McCarthy MI, Lindi V, Harri N, Körner A, Bønnelykke K, Heinrich J, Melbye M, Rivadeneira F, Hakonarson H, Ring SM, Smith GD, Sørensen TI, Timpson NJ, Grant SF, Jaddoe VW; Early Growth Genetics (EGG) Consortium; Bone Mineral Density in Childhood Study BMDCS.  : Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.   Hum Mol Genet. Page: 389-403, Jan 2016.

2015

Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg A, Wedderburn LR, Anton J, Schwarz T, Hinks A, Bilginer Y, Park J, Cobb J, Satorius CL, Han B, Baskin E, Signa S, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group; Childhood Arthritis Prospective Study (CAPS) Group; Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators; Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group; Biologically Based Outcome Predictors in JIA (BBOP) Group, de Bakker PI, Raychaudhuri S, Langefeld CD, Thompson S, Zeggini E, Thomson W, Kastner DL, Woo P; International Childhood Arthritis Genetics (INCHARGE) Consortium.: HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.  Proc Natl Acad Sci  Page: 15970-5, Dec 2015.

Oldridge DA, Wood AC, Weichert-Leahey N, Crimmins I, Sussman R, Winter C, McDaniel LD, Diamond M, Hart LS, Zhu S, Durbin AD, Abraham BJ, Anders L, Tian L, Zhang S, Wei JS, Khan J, Bramlett K, Rahman N, Capasso M, Iolascon A, Gerhard DS, Guidry Auvil JM, Young RA, Hakonarson H, Diskin SJ, Look AT, Maris JM. : Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism.   Nature. Page: 418-21, Dec 2015.

De R, Verma SS, Drenos F, Holzinger ER, Holmes MV, Hall MA, Crosslin DR, Carrell DS, Hakonarson H, Jarvik G, Larson E, Pacheco JA, Rasmussen-Torvik LJ, Moore CB, Asselbergs FW, Moore JH, Ritchie MD, Keating BJ, Gilbert-Diamond D. : Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR).  BioData Min. Dec 2015.

Chang X, Glessner J, Tin A, Li J, Guo Y, Wei Z, Liu Y, Mentch FD, Hou C, Zhao Y, Wang T, Qiu H, Kim C, Sleiman PM, Hakonarson H.: Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children.  Sci Rep. Dec 2015.

Thapar A, Martin J, Mick E, Arias Vásquez A, Langley K, Scherer SW, Schachar R, Crosbie J, Williams N, Franke B, Elia J, Glessner J, Hakonarson H; IMAGE 2 Consortium, Owen MJ, Faraone SV, O'Donovan MC, Holmans P.: Psychiatric gene discoveries shape evidence on ADHD's biology.   Mol Psychiatry. Nov 2015.

Marenholz I, Esparza-Gordillo J, Rüschendorf F, Bauerfeind A, Strachan DP, Spycher BD, Baurecht H, Margaritte-Jeannin P, Sääf A, Kerkhof M, Ege M, Baltic S, Matheson MC, Li J, Michel S, Ang WQ, McArdle W, Arnold A, Homuth G, Demenais F, Bouzigon E, Söderhäll C, Pershagen G, de Jongste JC, Postma DS, Braun-Fahrländer C, Horak E, Ogorodova LM, Puzyrev VP, Bragina EY, Hudson TJ, Morin C, Duffy DL, Marks GB, Robertson CF, Montgomery GW, Musk B, Thompson PJ, Martin NG, James A, Sleiman P, Toskala E, Rodriguez E, Fölster-Holst R, Franke A, Lieb W, Gieger C, Heinzmann A, Rietschel E, Keil T, Cichon S, Nöthen MM, Pennell CE, Sly PD, Schmidt CO, Matanovic A, Schneider V, Heinig M, Hübner N, Holt PG, Lau S, Kabesch M, Weidinger S, Hakonarson H, Ferreira MA, Laprise C, Freidin MB, Genuneit J, Koppelman GH, Melén E, Dizier MH, Henderson AJ, Lee YA.: Meta-analysis identifies seven susceptibility loci involved in the atopic march. Nat Commun.  Nat Commun. Nov 2015.

Liu Y, Li Y, March ME, Kenny N, Xu K, Wang F, Guo Y, Keating B, Glessner J, Li J, Ganley TJ, Zhang J, Deardorff MA, Xu X, Hakonarson H.: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.   Hum Genomics. Nov 2015.

Ghani M, Reitz C, Cheng R, Vardarajan BN, Jun G, Sato C, Naj A, Rajbhandary R, Wang LS, Valladares O, Lin CF, Larson EB, Graff-Radford NR, Evans D, De Jager PL, Crane PK, Buxbaum JD, Murrell JR, Raj T, Ertekin-Taner N, Logue M, Baldwin CT, Green RC, Barnes LL, Cantwell LB, Fallin MD, Go RC, Griffith PA, Obisesan TO, Manly JJ, Lunetta KL, Kamboh MI, Lopez OL, Bennett DA, Hendrie H, Hall KS, Goate AM, Byrd GS, Kukull WA, Foroud TM, Haines JL, Farrer LA, Pericak-Vance MA, Lee JH, Schellenberg GD, St George-Hyslop P, Mayeux R, Rogaeva E; Alzheimer's Disease Genetics Consortium. : Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals.   JAMA Neurol. Page: 1313-23, Nov 2015.

Wain LV, Shrine N, Miller S, Jackson VE, Ntalla I, Soler Artigas M, Billington CK, Kheirallah AK, Allen R, Cook JP, Probert K, Obeidat M, Bossé Y, Hao K, Postma DS, Paré PD, Ramasamy A; UK Brain Expression Consortium (UKBEC), Mägi R, Mihailov E, Reinmaa E, Melén E, O'Connell J, Frangou E, Delaneau O; OxGSK Consortium, Freeman C, Petkova D, McCarthy M, Sayers I, Deloukas P, Hubbard R, Pavord I, Hansell AL, Thomson NC, Zeggini E, Morris AP, Marchini J, Strachan DP, Tobin MD, Hall IP. : Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.    Lancet Respir Med. Page: 769-81, Oct 2015.

Sleiman PM, March M, Hakonarson H.: The genetic basis of eosinophilic esophagitis.   Best Pract Res Clin Gastroenterol. Oct 2015.

Ryan KM, Ellis AR, Raafat R, Bhoj EJ, Hakonarson H, Li D, Schrier Vergano S.: Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals.   Am J Med Genet A.  Page: 482-6, Oct 2015.

Li YR, van Setten J, Verma SS, Lu Y, Holmes MV, Gao H, Lek M, Nair N, Chandrupatla H, Chang B, Karczewski KJ, Wong C, Mohebnasab M, Mukhtar E, Phillips R, Tragante V, Hou C, Steel L, Lee T, Garifallou J, Guettouche T, Cao H, Guan W, Himes A, van Houten J, Pasquier A, Yu R, Carrigan E, Miller MB, Schladt D, Akdere A, Gonzalez A, Llyod KM, McGinn D, Gangasani A, Michaud Z, Colasacco A, Snyder J, Thomas K, Wang T, Wu B, Alzahrani AJ, Al-Ali AK, Al-Muhanna FA, Al-Rubaish AM, Al-Mueilo S, Monos DS, Murphy B, Olthoff KM, Wijmenga C, Webster T, Kamoun M, Balasubramanian S, Lanktree MB, Oetting WS, Garcia-Pavia P, MacArthur DG, de Bakker PI, Hakonarson H, Birdwell KA, Jacobson PA, Ritchie MD, Asselbergs FW, Israni AK, Shaked A, Keating BJ.  : Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies.    Genome Med. Oct 2015.

Li YR, Zhao SD, Li J, Bradfield JP, Mohebnasab M, Steel L, Kobie J, Abrams DJ, Mentch FD, Glessner JT, Guo Y, Wei Z, Connolly JJ, Cardinale CJ, Bakay M, Li D, Maggadottir SM, Thomas KA, Qui H, Chiavacci RM, Kim CE, Wang F, Snyder J, Flatø B, Førre Ø, Denson LA, Thompson SD, Becker ML, Guthery SL, Latiano A, Perez E, Resnick E, Strisciuglio C, Staiano A, Miele E, Silverberg MS, Lie BA, Punaro M, Russell RK, Wilson DC, Dubinsky MC, Monos DS, Annese V, Munro JE, Wise C, Chapel H, Cunningham-Rundles C, Orange JS, Behrens EM, Sullivan KE, Kugathasan S, Griffiths AM, Satsangi J, Grant SF, Sleiman PM, Finkel TH, Polychronakos C, Baldassano RN, Luning Prak ET, Ellis JA, Li H, Keating BJ, Hakonarson H. : Genetic sharing and heritability of paediatric age of onset autoimmune diseases.    Nat Commun. Oct 2015.

Das A, Morley M, Moravec CS, Tang WH, Hakonarson H; MAGNet Consortium, Margulies KB, Cappola TP, Jensen S, Hannenhalli S. : Bayesian integration of genetics and epigenetics detects causal regulatory SNPs underlying expression variability.    Nat Commun. Oct 2015.

Yellin JL, Trocle A, Grant SF, Hakonarson H, Shea KG, Ganley TJ.: Candidate Loci are Revealed by an Initial Genome-wide Association Study of Juvenile Osteochondritis Dissecans.   J Pediatr Orthop. Sep 2015.

Ningappa M, So J, Glessner J, Ashokkumar C, Ranganathan S, Min J, Higgs BW, Sun Q, Haberman K, Schmitt L, Vilarinho S, Mistry PK, Vockley G, Dhawan A, Gittes GK, Hakonarson H, Jaffe R, Subramaniam S, Shin D, Sindhi R.: The Role of ARF6 in Biliary Atresia.    PLoS One. Sep 2015.

Liu JZ, van Sommeren S, Huang H, Ng SC, Alberts R, Takahashi A, Ripke S, Lee JC, Jostins L, Shah T, Abedian S, Cheon JH, Cho J, Daryani NE, Franke L, Fuyuno Y, Hart A, Juyal RC, Juyal G, Kim WH, Morris AP, Poustchi H, Newman WG, Midha V, Orchard TR, Vahedi H, Sood A, Sung JJ, Malekzadeh R, Westra HJ, Yamazaki K, Yang SK; International Multiple Sclerosis Genetics Consortium; International IBD Genetics Consortium, Barrett JC, Franke A, Alizadeh BZ, Parkes M, B K T, Daly MJ, Kubo M, Anderson CA, Weersma RK.: Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.   Nat Genet. Page: 979-86, Sep 2015.

Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG, Cobb BL, Denny JC, Hakonarson H, Hartzler AL, Hripcsak G, Kannry J, Kohane IS, Kullo IJ, Lin S, Manzi S, Marsolo K, Overby CL, Pathak J, Peissig P, Pulley J, Ralston J, Rasmussen L, Roden DM, Tromp G, Uphoff T, Weng C, Wolf W, Williams MS, Starren J.: Practical considerations in genomic decision support: The eMERGE experience.    J Pathol Inform. Sep 2015.

Chesi A, Mitchell JA, Kalkwarf HJ, Bradfield JP, Lappe JM, McCormack SE, Gilsanz V, Oberfield SE, Hakonarson H, Shepherd JA, Kelly A, Zemel BS, Grant SF. : A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius.  Hum Mol Genet. Page: 5053-9, Sep 2015.

Li YR, Li J, Zhao SD, Bradfield JP, Mentch FD, Maggadottir SM, Hou C, Abrams DJ, Chang D, Gao F, Guo Y, Wei Z, Connolly JJ, Cardinale CJ, Bakay M, Glessner JT, Li D, Kao C, Thomas KA, Qiu H, Chiavacci RM, Kim CE, Wang F, Snyder J, Richie MD, Flatø B, Førre Ø, Denson LA, Thompson SD, Becker ML, Guthery SL, Latiano A, Perez E, Resnick E, Russell RK, Wilson DC, Silverberg MS, Annese V, Lie BA, Punaro M, Dubinsky MC, Monos DS, Strisciuglio C, Staiano A, Miele E, Kugathasan S, Ellis JA, Munro JE, Sullivan KE, Wise CA, Chapel H, Cunningham-Rundles C, Grant SF, Orange JS, Sleiman PM, Behrens EM, Griffiths AM, Satsangi J, Finkel TH, Keinan A, Prak ET, Polychronakos C, Baldassano RN, Li H, Keating BJ, Hakonarson H.: Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.   Nat Med. Aug 2015.

Li WD, Jiao H, Wang K, Yang F, Grant SF, Hakonarson H, Ahima R, Arlen Price R.  : Pathway-Based Genome-wide Association Studies Reveal That the Rac1 Pathway Is Associated with Plasma Adiponectin Levels.   Sci Rep. Aug 2015.

Li J, Fung I, Glessner JT, Pandey R, Wei Z, Bakay M, Mentch FD, Pellegrino R, Wang T, Kim C, Hou C, Wang F, Chiavacci RM, Thomas KA, Spergel JM, Hakonarson H, Sleiman PM. : Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.    J Immunol. Page: 1599-607, Aug 2015.

Jiao H, Wang K, Yang F, Grant SF, Hakonarson H, Price RA, Li WD. : Pathway-Based Genome-Wide Association Studies for Plasma Triglycerides in Obese Females and Normal-Weight Controls.   PLoS One. Aug 2015.

Dajani R, Li J, Wei Z, Glessner JT, Chang X, Cardinale CJ, Pellegrino R, Wang T, Hakooz N, Khader Y, Sheshani A, Zandaki D, Hakonarson H.: CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations.    Sci Rep. Aug 2015.

Chiaroni-Clarke RC, Li YR, Munro JE, Chavez RA, Scurrah KJ, Pezic A, Akikusa JD, Allen RC, Piper SE, Becker ML, Thompson SD, Lie BA, Flato B, Forre O, Punaro M, Wise C, Saffery R, Finkel TH, Hakonarson H, Ponsonby AL, Ellis JA.: The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females.   Genes Immun. Aug 2015.

Joshi PK, Esko T, Mattsson H, Eklund N, Gandin I, Nutile T, Jackson AU, Schurmann C, Smith AV, Zhang W, Okada Y, Stančáková A, Faul JD, Zhao W, Bartz TM, Concas MP, Franceschini N, Enroth S, Vitart V, Trompet S, Guo X, Chasman DI, O'Connel JR, Corre T, Nongmaithem SS, Chen Y, Mangino M, Ruggiero D, Traglia M, Farmaki AE, Kacprowski T, Bjonnes A, van der Spek A, Wu Y, Giri AK, Yanek LR, Wang L, Hofer E, Rietveld CA, McLeod O, Cornelis MC, Pattaro C, Verweij N, Baumbach C, Abdellaoui A, Warren HR, Vuckovic D, Mei H, Bouchard C, Perry JR, Cappellani S, Mirza SS, Benton MC, Broeckel U, Medland SE, Lind PA, Malerba G, Drong A, Yengo L, Bielak LF, Zhi D, van der Most PJ, Shriner D, Mägi R, Hemani G, Karaderi T, Wang Z, Liu T, Demuth I, Zhao JH, Meng W, Lataniotis L, van der Laan SW, Bradfield JP, Wood AR, Bonnefond A, Ahluwalia TS, Hall LM, Salvi E, Yazar S, Carstensen L, de Haan HG, Abney M, Afzal U, Allison MA, Amin N, Asselbergs FW, Bakker SJ, Barr RG, Baumeister SE, Benjamin DJ, Bergmann S, Boerwinkle E, Bottinger EP, Campbell A, Chakravarti A, Chan Y, Chanock SJ, Chen C, Chen YD, Collins FS, Connell J, Correa A, Cupples LA, Smith GD, Davies G, Dörr M, Ehret G, Ellis SB, Feenstra B, Feitosa MF, Ford I, Fox CS, Frayling TM, Friedrich N, Geller F, Scotland G, Gillham-Nasenya I, Gottesman O, Graff M, Grodstein F, Gu C, Haley C, Hammond CJ, Harris SE, Harris TB, Hastie ND, Heard-Costa NL, Heikkilä K, Hocking LJ, Homuth G, Hottenga JJ, Huang J, Huffman JE, Hysi PG, Ikram MA, Ingelsson E, Joensuu A, Johansson Å, Jousilahti P, Jukema JW, Kähönen M, Kamatani Y, Kanoni S, Kerr SM, Khan NM, Koellinger P, Koistinen HA, Kooner MK, Kubo M, Kuusisto J, Lahti J, Launer LJ, Lea RA, Lehne B, Lehtimäki T, Liewald DC, Lind L, Loh M, Lokki ML, London SJ, Loomis SJ, Loukola A, Lu Y, Lumley T, Lundqvist A, Männistö S, Marques-Vidal P, Masciullo C, Matchan A, Mathias RA, Matsuda K, Meigs JB, Meisinger C, Meitinger T, Menni C, Mentch FD, Mihailov E, Milani L, Montasser ME, Montgomery GW, Morrison A, Myers RH, Nadukuru R, Navarro P, Nelis M, Nieminen MS, Nolte IM, O'Connor GT, Ogunniyi A, Padmanabhan S, Palmas WR, Pankow JS, Patarcic I, Pavani F, Peyser PA, Pietilainen K, Poulter N, Prokopenko I, Ralhan S, Redmond P, Rich SS, Rissanen H, Robino A, Rose LM, Rose R, Sala C, Salako B, Salomaa V, Sarin AP, Saxena R, Schmidt H, Scott LJ, Scott WR, Sennblad B, Seshadri S, Sever P, Shrestha S, Smith BH, Smith JA, Soranzo N, Sotoodehnia N, Southam L, Stanton AV, Stathopoulou MG, Strauch K, Strawbridge RJ, Suderman MJ, Tandon N, Tang ST, Taylor KD, Tayo BO, Töglhofer AM, Tomaszewski M, TÅ¡ernikova N, Tuomilehto J, Uitterlinden AG, Vaidya D, van Hylckama Vlieg A, van Setten J, Vasankari T, Vedantam S, Vlachopoulou E, Vozzi D, Vuoksimaa E, Waldenberger M, Ware EB, Wentworth-Shields W, Whitfield JB, Wild S, Willemsen G, Yajnik CS, Yao J, Zaza G, Zhu X; BioBank Japan Project, Salem RM, Melbye M, Bisgaard H, Samani NJ, Cusi D, Mackey DA, Cooper RS, Froguel P, Pasterkamp G, Grant SF, Hakonarson H, Ferrucci L, Scott RA, Morris AD, Palmer CN, Dedoussis G, Deloukas P, Bertram L, Lindenberger U, Berndt SI, Lindgren CM, Timpson NJ, Tönjes A, Munroe PB, Sørensen TI, Rotimi CN, Arnett DK, Oldehinkel AJ, Kardia SL, Balkau B, Gambaro G, Morris AP, Eriksson JG, Wright MJ, Martin NG, Hunt SC, Starr JM, Deary IJ, Griffiths LR, Tiemeier H, Pirastu N, Kaprio J, Wareham NJ, Pérusse L, Wilson JG, Girotto G, Caulfield MJ, Raitakari O, Boomsma DI, Gieger C, van der Harst P, Hicks AA, Kraft P, Sinisalo J, Knekt P, Johannesson M, Magnusson PK, Hamsten A, Schmidt R, Borecki IB, Vartiainen E, Becker DM, Bharadwaj D, Mohlke KL, Boehnke M, van Duijn CM, Sanghera DK, Teumer A, Zeggini E, Metspalu A, Gasparini P, Ulivi S, Ober C, Toniolo D, Rudan I, Porteous DJ, Ciullo M, Spector TD, Hayward C, Dupuis J, Loos RJ, Wright AF, Chandak GR, Vollenweider P, Shuldiner AR, Ridker PM, Rotter JI, Sattar N, Gyllensten U, North KE, Pirastu M, Psaty BM, Weir DR, Laakso M, Gudnason V, Takahashi A, Chambers JC, Kooner JS, Strachan DP, Campbell H, Hirschhorn JN, Perola M, PolaÅ¡ek O, Wilson JF. : Directional dominance on stature and cognition in diverse human populations.   Nature Page: 459-62, Jul 2015.

Brehm JM, Ramratnam SK, Tse SM, Croteau-Chonka DC, Pino-Yanes M, Rosas-Salazar C, Litonjua AA, Raby BA, Boutaoui N, Han YY, Chen W, Forno E, Marsland AL, Nugent NR, Eng C, Colón-Semidey A, Alvarez M, Acosta-Pérez E, Spear ML, Martinez FD, Avila L, Weiss ST, Soto-Quiros M, Ober C, Nicolae DL, Barnes KC, Lemanske RF Jr, Strunk RC, Liu A, London SJ, Gilliland F, Sleiman P, March M, Hakonarson H, Duan QL, Kolls JK, Fritz GK, Hu D, Fani N, Stevens JS, Almli LM, Burchard EG, Shin J, McQuaid EL, Ressler K, Canino G, Celedón JC. : Stress and Bronchodilator Response in Children with Asthma.  Am J Respir Crit Care Med. Page: 47-56, Jul 2015.

Barthold JS, Wang Y, Kolon TF, Kollin C, Nordenskjöld A, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzaléz R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Kim CE, Li J,Hakonarson H, Devoto M.: Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.    Hum Reprod. Jul 2015.

Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Guo Y, Tian L, Liu X, Guan L, Zhang J, Keating B, Xu X, Hakonarson H, Ayuso C.: Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.    PLoS One. Jul 2015.

Østergaard SD, Mukherjee S, Sharp SJ, Proitsi P, Lotta LA, Day F, Perry JR, Boehme KL, Walter S, Kauwe JS, Gibbons LE; Alzheimer's Disease Genetics Consortium; GERAD1 Consortium; EPIC-InterAct Consortium, Larson EB, Powell JF, Langenberg C, Crane PK, Wareham NJ, Scott RA.: Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study.    PLoS Med. Jun 2015.

Satterthwaite TD, Vandekar SN, Wolf DH, Bassett DS, Ruparel K, Shehzad Z, Craddock RC, Shinohara RT, Moore TM, Gennatas ED, Jackson C, Roalf DR, Milham MP, Calkins ME, Hakonarson H, Gur RC, Gur RE.: Connectome-wide network analysis of youth with Psychosis-Spectrum symptoms.    Mol Psychiatry. Jun 2015.

Bhoj EJ, Li D, Harr MH, Tian L, Wang T, Zhao Y, Qiu H, Kim C, Hoffman JD, Hakonarson H, Zackai EH.: Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.   Am J Med Genet A Jun 2015.

Rodriguez S, Gaunt TR, Guo Y, Zheng J, Barnes MR, Tang W, Danish F, Johnson A, Castillo BA, Li YR, Hakonarson H, Buxbaum SG, Palmer T, Tsai MY, Lange LA, Ebrahim S, Davey Smith G, Lawlor DA, Folsom AR, Hoogeveen R, Reiner A, Keating B, Day IN.: Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.    Eur J Hum Genet. Apr 2015.

Menezes MJ, Guo Y, Zhang J, Riley LG, Cooper ST, Thorburn DR, Li J, Dong D, Li Z, Glessner J, Davis RL, Sue CM, Alexander SI, Arbuckle S, Kirwan P, Keating BJ, Xu X, Hakonarson H*, Christodoulou J*.     : Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. Hum Mol Genet. 8: 2297-307, Apr 2015.

Lill CM, Rengmark A, Pihlstrøm L, Fogh I, Shatunov A, Sleiman PM, Wang LS, Liu T, Lassen CF, Meissner E, Alexopoulos P, Calvo A, Chio A, Dizdar N, Faltraco F, Forsgren L, Kirchheiner J, Kurz A, Larsen JP, Liebsch M, Linder J, Morrison KE, Nissbrandt H, Otto M, Pahnke J, Partch A, Restagno G, Rujescu D, Schnack C, Shaw CE, Shaw PJ, Tumani H, Tysnes OB, Valladares O, Silani V, van den Berg LH, van Rheenen W, Veldink JH, Lindenberger U, Steinhagen-Thiessen E; SLAGEN Consortium, Teipel S, Perneczky R, Hakonarson H, Hampel H, von Arnim CA, Olsen JH, Van Deerlin VM, Al-Chalabi A, Toft M, Ritz B, Bertram L.: The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.    Alzheimers Dement. Apr 2015.

Li J, Jørgensen SF, Maggadottir SM, Bakay M, Warnatz K, Glessner J, Pandey R, Salzer U, Schmidt RE, Perez E, Resnick E, Goldacker S, Buchta M, Witte T, Padyukov L, Videm V, Folseraas T, Atschekzei F, Elder JT, Nair RP, Winkelmann J, Gieger C, Nöthen MM, Büning C, Brand S, Sullivan KE, Orange JS, Fevang B, Schreiber S, Lieb W, Aukrust P, Chapel H, Cunningham-Rundles C, Franke A, Karlsen TH, Grimbacher B, Hakonarson H*, Hammarström L, Ellinghaus E. : Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells.   Nat Commun. Apr 2015.

Interleukin 1 Genetics Consortium.: Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis.  Lancet Diabetes Endocrinol.  Lancet Diabetes Endocrinol. Page: 243-53, Apr 2015.

Chang X, Li J, Guo Y, Wei Z, Mentch FD, Hou C, Zhao Y, Qiu H, Kim C, Sleiman PM, Hakonarson H.: Genome-wide association study of serum minerals levels in children of different ethnic background.   PLoS One. Apr 2015.

Calkins ME, Merikangas KR, Moore TM, Burstein M, Behr MA, Satterthwaite TD, Ruparel K, Wolf DH, Roalf DR, Mentch FD, Qiu H, Chiavacci R, Connolly JJ, Sleiman PM, Gur RC, Hakonarson H, Gur RE. : The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative.    J Child Psychol Psychiatry. Apr 2015.

Wolf DH, Satterthwaite TD, Calkins ME, Ruparel K, Elliott MA, Hopson RD, Jackson CT, Prabhakaran K, Bilker WB, Hakonarson H, Gur RC, Gur RE.    : Functional Neuroimaging Abnormalities in Youth With Psychosis Spectrum Symptoms. JAMA Psychiatry. Mar 2015.

Sgariglia F, Pedrini E, Bradfield JP, Bhatti TR, D'Adamo P, Dormans JP, Gunawardena AT, Hakonarson H, Hecht JT, Sangiorgi L, Pacifici M, Enomoto-Iwamoto M, Grant SF.     : The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis. Bone. 72: 123-7, Mar 2015.

Satterthwaite TD, Connolly JJ, Ruparel K, Calkins ME, Jackson C, Elliott MA, Roalf DR, Ryan Hopsona KP, Behr M, Qiu H, Mentch FD, Chiavacci R, Sleiman PM, Gur RC, Hakonarson H, Gur RE. : The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth.   Neuroimage Mar 2015.

Onengut-Gumuscu S, Chen WM, Burren O, Cooper NJ, Quinlan AR, Mychaleckyj JC, Farber E, Bonnie JK, Szpak M, Schofield E, Achuthan P, Guo H, Fortune MD, Stevens H, Walker NM, Ward LD, Kundaje A, Kellis M, Daly MJ, Barrett JC, Cooper JD, Deloukas P; Type 1 Diabetes Genetics Consortium, Todd JA, Wallace C, Concannon P, Rich SS. : Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.    Nat Genet. Page: 381-6, Mar 2015.

Nead KT, Li A, Wehner MR, Neupane B, Gustafsson S, Butterworth A, Engert JC, Davis AD, Hegele RA, Miller R, den Hoed M, Khaw KT, Kilpeläinen TO, Wareham N, Edwards TL, Hallmans G, Varga TV, Kardia SL, Smith JA, Zhao W, Faul JD, Weir D, Mi J, Xi B, Canizales Quinteros S, Cooper C, Sayer AA, Jameson K, Grøntved A, Fornage M, Sidney S, Hanis CL, Highland HM, Häring HU, Heni M, Lasky-Su J, Weiss ST, Gerhard GS, Still C, Melka MM, Pausova Z, Paus T, Grant SF, Hakonarson H, Price RA, Wang K, Scherag A, Hebebrand J, Hinney A; BioBank Japan; AGEN-BMI; GIANT Consortium, Franks PW, Frayling TM, McCarthy MI, Hirschhorn JN, Loos R, Ingelsson E, Gerstein HC, Yusuf S, Beyene J, Anand SS, Meyre D.   : Contribution of common non-synonymous variants in PCSK1 to body-mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331,175 individuals. Hum Mol Genet. Mar 2015.

Moore TM, Reise SP, Gur RE, Hakonarson H, Gur RC.     : Psychometric properties of the Penn Computerized Neurocognitive Battery. Neuropsychology. 2: 235-46, Mar 2015.

Merikangas KR, Calkins ME, Burstein M, He JP, Chiavacci R, Lateef T, Ruparel K, Gur RC, Lehner T, Hakonarson H, Gur RE.   : Comorbidity of Physical and Mental Disorders in the Neurodevelopmental Genomics Cohort Study.  Pediatrics. Mar 2015.

Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, Hakonarson H, Zhang X, Brusco A.: An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.    BMC Med Genet. Mar 2015.

Kaess BM, Preis SR, Lieb W, Beiser AS, Yang Q, Chen TC, Hengstenberg C, Erdmann J, Schunkert H, Seshadri S, Vasan RS; CARDIoGRAM, Assimes TL, Deloukas P, Holm H, Kathiresan S, König IR, McPherson R, Reilly MP, Roberts R, Samani NJ, Stewart AF. : Circulating brain-derived neurotrophic factor concentrations and the risk of cardiovascular disease in the community.  J Am Heart Assoc Mar 2015.

Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, Beecham GW, Smith AV, Chouraki V, Hamilton-Nelson KL, Ikram MA, Fievet N, Denning N, Martin ER, Schmidt H, Kamatani Y, Dunstan ML, Valladares O, Laza AR, Zelenika D, Ramirez A, Foroud TM, Choi SH, Boland A, Becker T, Kukull WA, van der Lee SJ, Pasquier F, Cruchaga C, Beekly D, Fitzpatrick AL, Hanon O, Gill M, Barber R, Gudnason V, Campion D, Love S, Bennett DA, Amin N, Berr C, Tsolaki M, Buxbaum JD, Lopez OL, Deramecourt V, Fox NC, Cantwell LB, Tárraga L, Dufouil C, Hardy J, Crane PK, Eiriksdottir G, Hannequin D, Clarke R, Evans D, Mosley TH Jr, Letenneur L, Brayne C, Maier W, De Jager P, Emilsson V, Dartigues JF, Hampel H, Kamboh MI, de Bruijn RF, Tzourio C, Pastor P, Larson EB, Rotter JI, O'Donovan MC, Montine TJ, Nalls MA, Mead S, Reiman EM, Jonsson PV, Holmes C, St George-Hyslop PH, Boada M, Passmore P, Wendland JR, Schmidt R, Morgan K, Winslow AR, Powell JF, Carasquillo M, Younkin SG, Jakobsdóttir J, Kauwe JS, Wilhelmsen KC, Rujescu D, Nöthen MM, Hofman A, Jones L; IGAP Consortium, Haines JL, Psaty BM, Van Broeckhoven C, Holmans P, Launer LJ, Mayeux R, Lathrop M, Goate AM, Escott-Price V, Seshadri S, Pericak-Vance MA, Amouyel P, Williams J, van Duijn CM, Schellenberg GD, Farrer LA.     : A novel Alzheimer disease locus located near the gene encoding tau protein. Mol Psychiatry. Mar 2015.

Guo Y, Menezes MJ, Menezes MP, Liang J, Li D, Riley LG, Clarke NF, Andrews PI, Tian L, Webster R, Wang F, Liu X, Shen Y, Thorburn DR, Keating BJ, Engel A, Hakonarson H*, Christodoulou J*, Xu X*.    : Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.  Neuromuscul Disord.  3: 257-61, Mar 2015.

Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X; MSeqDR Consortium participants: Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church,; Rosanna Clima, Bruce H. Cohen, Richard G. Cotton, IFM de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre,; Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H. Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki,; Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe,; Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong.    : Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Mol Genet Metab. 3: 388-396, Mar 2015.

van der Valk RJ, Kreiner-Møller E, Kooijman MN, Guxens M, Stergiakouli E, Sääf A, Bradfield JP, Geller F, Hayes MG, Cousminer DL, Körner A, Thiering E, Curtin JA, Myhre R, Huikari V, Joro R, Kerkhof M, Warrington NM, Pitkänen N, Ntalla I, Horikoshi M, Veijola R, Freathy RM, Teo YY, Barton SJ, Evans DM, Kemp JP, St Pourcain B, Ring SM, Davey Smith G, Bergström A, Kull I, Hakonarson H, Mentch FD, Bisgaard H, Chawes B, Stokholm J, Waage J, Eriksen P, Sevelsted A, Melbye M; Early Genetics and Lifecourse Epidemiology (EAGLE) Consortium, van Duijn CM, Medina-Gomez C, Hofman A, de Jongste JC, Taal HR, Uitterlinden AG; Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Armstrong LL, Eriksson J, Palotie A, Bustamante M, Estivill X, Gonzalez JR, Llop S, Kiess W, Mahajan A, Flexeder C, Tiesler CM, Murray CS, Simpson A, Magnus P, Sengpiel V, Hartikainen AL, Keinanen-Kiukaanniemi S, Lewin A, Da Silva Couto Alves A, Blakemore AI, Buxton JL, Kaakinen M, Rodriguez A, Sebert S, Vaarasmaki M, Lakka T, Lindi V, Gehring U, Postma DS, Ang W, Newnham JP, Lyytikäinen LP, Pahkala K, Raitakari OT, Panoutsopoulou K, Zeggini E, Boomsma DI, Groen-Blokhuis M, Ilonen J, Franke L, Hirschhorn JN, Pers TH, Liang L, Huang J, Hocher B, Knip M, Saw SM, Holloway JW, Melén E, Grant SF, Feenstra B, Lowe WL, Widén E, Sergeyev E, Grallert H, Custovic A, Jacobsson B, Jarvelin MR, Atalay M, Koppelman GH, Pennell CE, Niinikoski H, Dedoussis GV, Mccarthy MI, Frayling TM, Sunyer J, Timpson NJ, Rivadeneira F, Bønnelykke K, Jaddoe VW; Early Growth Genetics (EGG) Consortium.     : A novel common variant in DCST2 is associated with length in early life and height in adulthood. Hum Mol Genet. 4: 1155-68, Feb 2015.

Zhang J, Barbaro P, Guo Y, Alodaib A, Li J, Gold W, Adès L, Keating BJ, Xu X, Teo J, Hakonarson H*, Christodoulou J*.     : Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.  Clin Genet. Feb 2015.

Wang LS, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JD, Cannon-Albright L, Baldwin CT, Zetterberg H, Blennow K, Kukull WA, Faber KM, Schupf N, Norton MC, Tschanz JT, Munger RG, Corcoran CD, Rogaeva E; Alzheimer's Disease Genetics Consortium, Lin CF, Dombroski BA, Cantwell LB, Partch A, Valladares O, Hakonarson H, St George-Hyslop P, Green RC, Goate AM, Foroud TM, Carney RM, Larson EB, Behrens TW, Kauwe JS, Haines JL, Farrer LA, Pericak-Vance MA, Mayeux R, Schellenberg GD; National Institute on Aging-Late-Onset Alzheimer's Disease (NIA-LOAD) Family Study.    : Rarity of the Alzheimer disease-protective APP A673T variant in the United States.  JAMA Neurol. 2: 209-16, Feb 2015.

Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium.    : Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nat Neurosci.  2: 199-209, Feb 2015.

Maier R, Moser G, Chen GB, Ripke S; Cross-Disorder Working Group of the Psychiatric Genomics Consortium, Coryell W, Potash JB, Scheftner WA, Shi J, Weissman MM, Hultman CM, Landén M, Levinson DF, Kendler KS, Smoller JW, Wray NR, Lee SH.    : Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder. Am J Hum Genet. 2: 283-94, Feb 2015.

Maggadottir SM, Li J, Glessner JT, Li YR, Wei Z, Chang X, Mentch FD, Thomas KA, Kim CE, Zhao Y, Hou C, Wang F, Jørgensen SF, Perez EE, Sullivan KE, Orange JS, Karlsen TH, Chapel H, Cunningham-Rundles C, Hakonarson H.    : Rare variants at 16p11.2 are associated with common variable immunodeficiency. J Allergy Clin Immunol. 15: 00021-4, Feb 2015.

Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, Powell C, Vedantam S, Buchkovich ML, Yang J, Croteau-Chonka DC, Esko T, Fall T, Ferreira T, Gustafsson S, Kutalik Z, Luan J, Mägi R, Randall JC, Winkler TW, Wood AR, Workalemahu T, Faul JD, Smith JA, Hua Zhao J, Zhao W, Chen J, Fehrmann R, Hedman ÅK, Karjalainen J, Schmidt EM, Absher D, Amin N, Anderson D, Beekman M, Bolton JL, Bragg-Gresham JL, Buyske S, Demirkan A, Deng G, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Goel A, Gong J, Jackson AU, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Mangino M, Mateo Leach I, Medina-Gomez C, Medland SE, Nalls MA, Palmer CD, Pasko D, Pechlivanis S, Peters MJ, Prokopenko I, Shungin D, Stančáková A, Strawbridge RJ, Ju Sung Y, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet-Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Isaacs A, Albrecht E, Ärnlöv J, Arscott GM, Attwood AP, Bandinelli S, Barrett A, Bas IN, Bellis C, Bennett AJ, Berne C, Blagieva R, Blüher M, Böhringer S, Bonnycastle LL, Böttcher Y, Boyd HA, Bruinenberg M, Caspersen IH, Ida Chen YD, Clarke R, Daw EW, de Craen AJ, Delgado G, Dimitriou M, Doney AS, Eklund N, Estrada K, Eury E, Folkersen L, Fraser RM, Garcia ME, Geller F, Giedraitis V, Gigante B, Go AS, Golay A, Goodall AH, Gordon SD, Gorski M, Grabe HJ, Grallert H, Grammer TB, Gräßler J, Grönberg H, Groves CJ, Gusto G, Haessler J, Hall P, Haller T, Hallmans G, Hartman CA, Hassinen M, Hayward C, Heard-Costa NL, Helmer Q, Hengstenberg C, Holmen O, Hottenga JJ, James AL, Jeff JM, Johansson Å, Jolley J, Juliusdottir T, Kinnunen L, Koenig W, Koskenvuo M, Kratzer W, Laitinen J, Lamina C, Leander K, Lee NR, Lichtner P, Lind L, Lindström J, Sin Lo K, Lobbens S, Lorbeer R, Lu Y, Mach F, Magnusson PK, Mahajan A, McArdle WL, McLachlan S, Menni C, Merger S, Mihailov E, Milani L, Moayyeri A, Monda KL, Morken MA, Mulas A, Müller G, Müller-Nurasyid M, Musk AW, Nagaraja R, Nöthen MM, Nolte IM, Pilz S, Rayner NW, Renstrom F, Rettig R, Ried JS, Ripke S, Robertson NR, Rose LM, Sanna S, Scharnagl H, Scholtens S, Schumacher FR, Scott WR, Seufferlein T, Shi J, Vernon Smith A, Smolonska J, Stanton AV, Steinthorsdottir V, Stirrups K, Stringham HM, Sundström J, Swertz MA, Swift AJ, Syvänen AC, Tan ST, Tayo BO, Thorand B, Thorleifsson G, Tyrer JP, Uh HW, Vandenput L, Verhulst FC, Vermeulen SH, Verweij N, Vonk JM, Waite LL, Warren HR, Waterworth D, Weedon MN, Wilkens LR, Willenborg C, Wilsgaard T, Wojczynski MK, Wong A, Wright AF, Zhang Q; LifeLines Cohort Study, Brennan EP, Choi M, Dastani Z, Drong AW, Eriksson P, Franco-Cereceda A, Gådin JR, Gharavi AG, Goddard ME, Handsaker RE, Huang J, Karpe F, Kathiresan S, Keildson S, Kiryluk K, Kubo M, Lee JY, Liang L, Lifton RP, Ma B, McCarroll SA, McKnight AJ, Min JL, Moffatt MF, Montgomery GW, Murabito JM, Nicholson G, Nyholt DR, Okada Y, Perry JR, Dorajoo R, Reinmaa E, Salem RM, Sandholm N, Scott RA, Stolk L, Takahashi A, Tanaka T, Van't Hooft FM, Vinkhuyzen AA, Westra HJ, Zheng W, Zondervan KT; ADIPOGen Consortium; AGEN-BMI Working Group; CARDIOGRAMplusC4D Consortium; CKDGen Consortium; GLGC; ICBP; MAGIC Investigators; MuTHER Consortium; MIGen Consortium; PAGE Consortium; ReproGen Consortium; GENIE Consortium; International Endogene Consortium, Heath AC, Arveiler D, Bakker SJ, Beilby J, Bergman RN, Blangero J, Bovet P, Campbell H, Caulfield MJ, Cesana G, Chakravarti A, Chasman DI, Chines PS, Collins FS, Crawford DC, Cupples LA, Cusi D, Danesh J, de Faire U, den Ruijter HM, Dominiczak AF, Erbel R, Erdmann J, Eriksson JG, Farrall M, Felix SB, Ferrannini E, Ferrières J, Ford I, Forouhi NG, Forrester T, Franco OH, Gansevoort RT, Gejman PV, Gieger C, Gottesman O, Gudnason V, Gyllensten U, Hall AS, Harris TB, Hattersley AT, Hicks AA, Hindorff LA, Hingorani AD, Hofman A, Homuth G, Hovingh GK, Humphries SE, Hunt SC, Hyppönen E, Illig T, Jacobs KB, Jarvelin MR, Jöckel KH, Johansen B, Jousilahti P, Jukema JW, Jula AM, Kaprio J, Kastelein JJ, Keinanen-Kiukaanniemi SM, Kiemeney LA, Knekt P, Kooner JS, Kooperberg C, Kovacs P, Kraja AT, Kumari M, Kuusisto J, Lakka TA, Langenberg C, Le Marchand L, Lehtimäki T, Lyssenko V, Männistö S, Marette A, Matise TC, McKenzie CA, McKnight B, Moll FL, Morris AD, Morris AP, Murray JC, Nelis M, Ohlsson C, Oldehinkel AJ, Ong KK, Madden PA, Pasterkamp G, Peden JF, Peters A, Postma DS, Pramstaller PP, Price JF, Qi L, Raitakari OT, Rankinen T, Rao DC, Rice TK, Ridker PM, Rioux JD, Ritchie MD, Rudan I, Salomaa V, Samani NJ, Saramies J, Sarzynski MA, Schunkert H, Schwarz PE, Sever P, Shuldiner AR, Sinisalo J, Stolk RP, Strauch K, Tönjes A, Trégouët DA, Tremblay A, Tremoli E, Virtamo J, Vohl MC, Völker U, Waeber G, Willemsen G, Witteman JC, Zillikens MC, Adair LS, Amouyel P, Asselbergs FW, Assimes TL, Bochud M, Boehm BO, Boerwinkle E, Bornstein SR, Bottinger EP, Bouchard C, Cauchi S, Chambers JC, Chanock SJ, Cooper RS, de Bakker PI, Dedoussis G, Ferrucci L, Franks PW, Froguel P, Groop LC, Haiman CA, Hamsten A, Hui J, Hunter DJ, Hveem K, Kaplan RC, Kivimaki M, Kuh D, Laakso M, Liu Y, Martin NG, März W, Melbye M, Metspalu A, Moebus S, Munroe PB, Njølstad I, Oostra BA, Palmer CN, Pedersen NL, Perola M, Pérusse L, Peters U, Power C, Quertermous T, Rauramaa R, Rivadeneira F, Saaristo TE, Saleheen D, Sattar N, Schadt EE, Schlessinger D, Slagboom PE, Snieder H, Spector TD, Thorsteinsdottir U, Stumvoll M, Tuomilehto J, Uitterlinden AG, Uusitupa M, van der Harst P, Walker M, Wallaschofski H, Wareham NJ, Watkins H, Weir DR, Wichmann HE, Wilson JF, Zanen P, Borecki IB, Deloukas P, Fox CS, Heid IM, O'Connell JR, Strachan DP, Stefansson K, van Duijn CM, Abecasis GR, Franke L, Frayling TM, McCarthy MI, Visscher PM, Scherag A, Willer CJ, Boehnke M, Mohlke KL, Lindgren CM, Beckmann JS, Barroso I, North KE, Ingelsson E, Hirschhorn JN, Loos RJ, Speliotes EK.     : Genetic studies of body mass index yield new insights for obesity biology. Nature. 7538: 197-206, Feb 2015.

Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH.    : Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. J Med Genet. 2: 104-10, Feb 2015.

Goyette P, Boucher G, Mallon D, Ellinghaus E, Jostins L, Huang H, Ripke S, Gusareva ES, Annese V, Hauser SL, Oksenberg JR, Thomsen I, Leslie S; International Inflammatory Bowel Disease Genetics Consortium; Australia and New Zealand IBDGC; Belgium IBD Genetics Consortium; Italian Group for IBD Genetic Consortium; NIDDK Inflammatory Bowel Disease Genetics Consortium; United Kingdom IBDGC; Wellcome Trust Case Control Consortium; Quebec IBD Genetics Consortium, Daly MJ, Van Steen K, Duerr RH, Barrett JC, McGovern DP, Schumm LP, Traherne JA, Carrington MN, Kosmoliaptsis V, Karlsen TH, Franke A, Rioux JD. : High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis. Nat Genet. 2: 172-9, Feb 2015.

Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J.   : De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes.   Hum Mutat. Feb 2015.

Swerdlow DI, Preiss D, Kuchenbaecker KB, Holmes MV, Engmann JE, Shah T, Sofat R, Stender S, Johnson PC, Scott RA, Leusink M, Verweij N, Sharp SJ, Guo Y, Giambartolomei C, Chung C, Peasey A, Amuzu A, Li K, Palmen J, Howard P, Cooper JA, Drenos F, Li YR, Lowe G, Gallacher J, Stewart MC, Tzoulaki I, Buxbaum SG, van der A DL, Forouhi NG, Onland-Moret NC, van der Schouw YT, Schnabel RB, Hubacek JA, Kubinova R, Baceviciene M, Tamosiunas A, Pajak A, Topor-Madry R, Stepaniak U, Malyutina S, Baldassarre D, Sennblad B, Tremoli E, de Faire U, Veglia F, Ford I, Jukema JW, Westendorp RG, de Borst GJ, de Jong PA, Algra A, Spiering W, Maitland-van der Zee AH, Klungel OH, de Boer A, Doevendans PA, Eaton CB, Robinson JG, Duggan D; DIAGRAM Consortium; MAGIC Consortium; InterAct Consortium, Kjekshus J, Downs JR, Gotto AM, Keech AC, Marchioli R, Tognoni G, Sever PS, Poulter NR, Waters DD, Pedersen TR, Amarenco P, Nakamura H, McMurray JJ, Lewsey JD, Chasman DI, Ridker PM, Maggioni AP, Tavazzi L, Ray KK, Seshasai SR, Manson JE, Price JF, Whincup PH, Morris RW, Lawlor DA, Smith GD, Ben-Shlomo Y, Schreiner PJ, Fornage M, Siscovick DS, Cushman M, Kumari M, Wareham NJ, Verschuren WM, Redline S, Patel SR, Whittaker JC, Hamsten A, Delaney JA, Dale C, Gaunt TR, Wong A, Kuh D, Hardy R, Kathiresan S, Castillo BA, van der Harst P, Brunner EJ, Tybjaerg-Hansen A, Marmot MG, Krauss RM, Tsai M, Coresh J, Hoogeveen RC, Psaty BM, Lange LA, Hakonarson H, Dudbridge F, Humphries SE, Talmud PJ, Kivimäki M, Timpson NJ, Langenberg C, Asselbergs FW, Voevoda M, Bobak M, Pikhart H, Wilson JG, Reiner AP, Keating BJ, Hingorani AD, Sattar N.   : HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials. Lancet.  9965: 351-61, Jan 2015.

Roy SM, Chesi A, Mentch F, Xiao R, Chiavacci R, Mitchell JA, Kelly A, Hakonarson H, Grant SF, Zemel BS, McCormack SE.     : Body Mass Index (BMI) Trajectories in Infancy Differ by Population Ancestry and May Presage Disparities in Early Childhood Obesity. J Clin Endocrinol Metab. Jan 2015.

Mitchell LE, Agopian AJ, Bhalla A, Glessner JT, Kim CE, Swartz MD, Hakonarson H, Goldmuntz E.     : Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations. Hum Mol Genet. 1: 265-73, Jan 2015.

Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A.   : Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. J Neurol.  1: 173-8, Jan 2015.

Ellis JA, Scurrah KJ, Li YR, Ponsonby AL, Chavez RA, Pezic A, Dwyer T, Akikusa JD, Allen RC, Becker ML, Thompson SD, Lie BA, Flatø B, Førre O, Punaro M, Wise C, Finkel TH, Hakonarson H, Munro JE.   : Epistasis amongst PTPN2 and genes of the vitamin D pathway contributes to risk of juvenile idiopathic arthritis.  J Steroid Biochem Mol Biol. 145: 113-20, Jan 2015.

2014

St Pourcain B, Haworth CM, Davis OS, Wang K, Timpson NJ, Evans DM, Kemp JP, Ronald A, Price T, Meaburn E, Ring SM, Golding J, Hakonarson H, Plomin R, Davey Smith G.    : Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence. Hum Genet. Dec 2014.

Scott A. Soleimanpour1; Aditi Gupta1; Marina A. Bakay2; David N. Groff1; João Fadista3; Lynn A. Spruce4; Jake A. Kushner5; Leif Groop3; Steven H. Seeholzer4; Brett A. Kaufman6; Hakon Hakonarson*; and Doris A. Stoffers*   : The diabetes susceptibility gene Clec16a regulates mitophagy. Cell. 2014 Jun 19;157(7):1577-90. doi: 10.1016/j.cell.2014.05.016.

International Genomics of Alzheimer's Disease Consortium (IGAP).     : Convergent genetic and expression data implicate immunity in Alzheimer's disease. Alzheimers Dement. 14: 02492-3, Dec 2014.

Capasso M, Diskin S, Cimmino F, Acierno G, Totaro F, Petrosino G, Pezone L, Diamond M, McDaniel L, Hakonarson H, Iolascon A, Devoto M, Maris JM.    : Common genetic variants in NEFL influence gene expression and neuroblastoma risk.  Cancer Res. 23: 6913-24, Dec 2014.

Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina M, García-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso C.     : Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. Orphanet J Rare Dis. 1: 190, Dec 2014.

Zhang Y, Ghosh S, Hakonarson H.    : Dynamic Bayesian testing of sets of variants in complex diseases. Genetics. 3: 867-78, Nov 2014.

Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau-Chonka DC, Day FR, Duan Y, Fall T, Fehrmann R, Ferreira T, Jackson AU, Karjalainen J, Lo KS, Locke AE, Mägi R, Mihailov E, Porcu E, Randall JC, Scherag A, Vinkhuyzen AA, Westra HJ, Winkler TW, Workalemahu T, Zhao JH, Absher D, Albrecht E, Anderson D, Baron J, Beekman M, Demirkan A, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Fraser RM, Goel A, Gong J, Justice AE, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Lui JC, Mangino M, Mateo Leach I, Medina-Gomez C, Nalls MA, Nyholt DR, Palmer CD, Pasko D, Pechlivanis S, Prokopenko I, Ried JS, Ripke S, Shungin D, Stancáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet-Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Afzal U, Arnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Bolton JL, Böttcher Y, Boyd HA, Bruinenberg M, Buckley BM, Buyske S, Caspersen IH, Chines PS, Clarke R, Claudi-Boehm S, Cooper M, Daw EW, De Jong PA, Deelen J, Delgado G, Denny JC, Dhonukshe-Rutten R, Dimitriou M, Doney AS, Dörr M, Eklund N, Eury E, Folkersen L, Garcia ME, Geller F, Giedraitis V, Go AS, Grallert H, Grammer TB, Gräßler J, Grönberg H, de Groot LC, Groves CJ, Haessler J, Hall P, Haller T, Hallmans G, Hannemann A, Hartman CA, Hassinen M, Hayward C, Heard-Costa NL, Helmer Q, Hemani G, Henders AK, Hillege HL, Hlatky MA, Hoffmann W, Hoffmann P, Holmen O, Houwing-Duistermaat JJ, Illig T, Isaacs A, James AL, Jeff J, Johansen B, Johansson Å, Jolley J, Juliusdottir T, Junttila J, Kho AN, Kinnunen L, Klopp N, Kocher T, Kratzer W, Lichtner P, Lind L, Lindström J, Lobbens S, Lorentzon M, Lu Y, Lyssenko V, Magnusson PK, Mahajan A, Maillard M, McArdle WL, McKenzie CA, McLachlan S, McLaren PJ, Menni C, Merger S, Milani L, Moayyeri A, Monda KL, Morken MA, Müller G, Müller-Nurasyid M, Musk AW, Narisu N, Nauck M, Nolte IM, Nöthen MM, Oozageer L, Pilz S, Rayner NW, Renstrom F, Robertson NR, Rose LM, Roussel R, Sanna S, Scharnagl H, Scholtens S, Schumacher FR, Schunkert H, Scott RA, Sehmi J, Seufferlein T, Shi J, Silventoinen K, Smit JH, Smith AV, Smolonska J, Stanton AV, Stirrups K, Stott DJ, Stringham HM, Sundström J, Swertz MA, Syvänen AC, Tayo BO, Thorleifsson G, Tyrer JP, van Dijk S, van Schoor NM, van der Velde N, van Heemst D, van Oort FV, Vermeulen SH, Verweij N, Vonk JM, Waite LL, Waldenberger M, Wennauer R, Wilkens LR, Willenborg C, Wilsgaard T, Wojczynski MK, Wong A, Wright AF, Zhang Q, Arveiler D, Bakker SJ, Beilby J, Bergman RN, Bergmann S, Biffar R, Blangero J, Boomsma DI, Bornstein SR, Bovet P, Brambilla P, Brown MJ, Campbell H, Caulfield MJ, Chakravarti A, Collins R, Collins FS, Crawford DC, Cupples LA, Danesh J, de Faire U, den Ruijter HM, Erbel R, Erdmann J, Eriksson JG, Farrall M, Ferrannini E, Ferrières J, Ford I, Forouhi NG, Forrester T, Gansevoort RT, Gejman PV, Gieger C, Golay A, Gottesman O, Gudnason V, Gyllensten U, Haas DW, Hall AS, Harris TB, Hattersley AT, Heath AC, Hengstenberg C, Hicks AA, Hindorff LA, Hingorani AD, Hofman A, Hovingh GK, Humphries SE, Hunt SC, Hypponen E, Jacobs KB, Jarvelin MR, Jousilahti P, Jula AM, Kaprio J, Kastelein JJ, Kayser M, Kee F, Keinanen-Kiukaanniemi SM, Kiemeney LA, Kooner JS, Kooperberg C, Koskinen S, Kovacs P, Kraja AT, Kumari M, Kuusisto J, Lakka TA, Langenberg C, Le Marchand L, Lehtimäki T, Lupoli S, Madden PA, Männistö S, Manunta P, Marette A, Matise TC, McKnight B, Meitinger T, Moll FL, Montgomery GW, Morris AD, Morris AP, Murray JC, Nelis M, Ohlsson C, Oldehinkel AJ, Ong KK, Ouwehand WH, Pasterkamp G, Peters A, Pramstaller PP, Price JF, Qi L, Raitakari OT, Rankinen T, Rao DC, Rice TK, Ritchie M, Rudan I, Salomaa V, Samani NJ, Saramies J, Sarzynski MA, Schwarz PE, Sebert S, Sever P, Shuldiner AR, Sinisalo J, Steinthorsdottir V, Stolk RP, Tardif JC, Tönjes A, Tremblay A, Tremoli E, Virtamo J, Vohl MC; Electronic Medical Records and Genomics (eMEMERGEGE) Consortium; MIGen Consortium; PAGEGE Consortium; LifeLines Cohort Study, Amouyel P, Asselbergs FW, Assimes TL, Bochud M, Boehm BO, Boerwinkle E, Bottinger EP, Bouchard C, Cauchi S, Chambers JC, Chanock SJ, Cooper RS, de Bakker PI, Dedoussis G, Ferrucci L, Franks PW, Froguel P, Groop LC, Haiman CA, Hamsten A, Hayes MG, Hui J, Hunter DJ, Hveem K, Jukema JW, Kaplan RC, Kivimaki M, Kuh D, Laakso M, Liu Y, Martin NG, März W, Melbye M, Moebus S, Munroe PB, Njølstad I, Oostra BA, Palmer CN, Pedersen NL, Perola M, Pérusse L, Peters U, Powell JE, Power C, Quertermous T, Rauramaa R, Reinmaa E, Ridker PM, Rivadeneira F, Rotter JI, Saaristo TE, Saleheen D, Schlessinger D, Slagboom PE, Snieder H, Spector TD, Strauch K, Stumvoll M, Tuomilehto J, Uusitupa M, van der Harst P, Völzke H, Walker M, Wareham NJ, Watkins H, Wichmann HE, Wilson JF, Zanen P, Deloukas P, Heid IM, Lindgren CM, Mohlke KL, Speliotes EK, Thorsteinsdottir U, Barroso I, Fox CS, North KE, Strachan DP, Beckmann JS, Berndt SI, Boehnke M, Borecki IB, McCarthy MI, Metspalu A, Stefansson K, Uitterlinden AG, van Duijn CM, Franke L, Willer CJ, Price AL, Lettre G, Loos RJ, Weedon MN, Ingelsson E, O'Connell JR, Abecasis GR, Chasman DI, Goddard ME, Visscher PM, Hirschhorn JN, Frayling TM.      : Defining the role of common variation in the genomic and biological architecture of adult human height. Nat Genet. 11: 1173-86, Nov 2014.

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group.    : Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology. 21: 1898-905, Nov 2014.

Sleiman PM, Wang ML, Cianferoni A, Aceves S, Gonsalves N, Nadeau K, Bredenoord AJ, Furuta GT, Spergel JM, Hakonarson H.      : GWAS identifies four novel eosinophilic esophagitis loci. Nat Commun. Nov 2014.

Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, Baldwin CT, Jarvik GP, Crane PK, Rogaeva E, Barmada MM, Demirci FY, Cruchaga C, Kramer PL, Ertekin-Taner N, Hardy J, Graff-Radford NR, Green RC, Larson EB, St George-Hyslop PH, Buxbaum JD, Evans DA, Schneider JA, Lunetta KL, Kamboh MI, Saykin AJ, Reiman EM, De Jager PL, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Martin ER, Haines JL, Mayeux RP, Farrer LA, Schellenberg GD, Pericak-Vance MA; Alzheimer Disease Genetics Consortium, Albert MS, Albin RL, Apostolova LG, Arnold SE, Barber R, Barnes LL, Beach TG, Becker JT, Beekly D, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Cantwell LB, Cao C, Carlson CS, Carney RM, Carrasquillo MM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cribbs DH, Crocco EA, DeCarli C, DeKosky ST, Dick M, Dickson DW, Duara R, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lin CF, Lopez OL, Lyketsos CG, Mack WJ, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Murrell JR, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Peskind E, Petersen RC, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Ringman JM, Roberson ED, Rosen HJ, Rosenberg RN, Sano M, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Valladares O, Van Deerlin VM, Van Eldik LJ, Vardarajan BN, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Wishnek S, Woltjer RL, Wright CB, Younkin SG, Yu CE, Yu L.    : Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. JAMA Neurol. 11: 1394-404, Nov 2014.

Cook-Sather SD, Li J, Hakonarson H.     : Modulatory effects of TAOK3 variants on morphine requirement in acute postoperative pain: an early genome wide association study contribution to the field of pediatric pain. Pain. 11: 2435-7, Nov 2014.

Guo Y, Kartawinata M, Li J, Pickett HA, Teo J, Kilo T, Barbaro PM, Keating B, Chen Y, Tian L, Al-Odaib A, Reddel RR, Christodoulou J, Xu X, Hakonarson H*, Bryan TM*.     : Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. Blood. 18: 2767-74, Oct 2014.

Glessner JT, Bick AG, Ito K, Homsy JG, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H*, Chung WK*.     : Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ Res. 10: 884-96, Oct 2014.

Calkins ME, Moore TM, Merikangas KR, Burstein M, Satterthwaite TD, Bilker WB, Ruparel K, Chiavacci R, Wolf DH, Mentch F, Qiu H, Connolly JJ, Sleiman PA, Hakonarson H, Gur RC, Gur RE.   : The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort.    World Psychiatry. 3: 296-305, Oct 2014.

Barthold JS, Wang Y, Kolon TF, Kollin C, Nordenskjöld A, Fisher AO, Figueroa TE, BaniHani AH, Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Kim CE, Mateson AB, Robbins AK, Li J, Akins RE Jr, Hakonarson H, Devoto M.    : Phenotype Specific Association of the TGFBR3 Locus with Nonsyndromic Cryptorchidism. J Urol. 14, Oct 2014.

Banerjee A, Wang HY, Borgmann-Winter KE, MacDonald ML, Kaprielian H, Stucky A, Kvasic J, Egbujo C, Ray R, Talbot K, Hemby SE, Siegel SJ, Arnold SE, Sleiman P, Chang X, Hakonarson H, Gur RE, Hahn CG.    : Src kinase as a mediator of convergent molecular abnormalities leading to NMDAR hypoactivity in schizophrenia.  Mol Psychiatry. Oct 2014.

Zamzow J, Culnan E, Spiers M, Calkins M, Satterthwaite T, Ruparel K, Abrams D, Chiavacci R, Hakonarson H, Gur R.: B-37The Relationship between Body Mass Index and Executive Function from Late Childhood through Adolescence.    Arch Clin Neuropsychol. 6: 550, Sep 2014.

Picard M, Zhang J, Hancock S, Derbeneva O, Golhar R, Golik P, O'Hearn S, Levy S, Potluri P, Lvova M, Davila A, Lin CS, Perin JC, Rappaport EF, Hakonarson H, Trounce IA, Procaccio V, Wallace DC.   : Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming. Proc Natl Acad Sci U S A. 38: E4033-42, Sep 2014.

International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address: epilepsy-austin@unimelb.edu.au.    : Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.  Lancet Neurol. 9: 893-903, Sep 2014.

Culnan E, Zamzow J, Spiers M, Calkins M, Satterthwaite T, Ruparel K, Abrams D, Chiavacci R, Hakonarson H, Gur R.   : B-36Relationships between Body Mass Index and Social Cognition among 8-19 Year-Olds. Arch Clin Neuropsychol. 6: 550, Sep 2014.

Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Patrick Murphy JL, Padiath Q, Xie Y, Hakonarson H, Xu X, Funari T, Fox M, Taft RJ, van der Knaap MS, Bernard G, Schiffmann R, Simons C, Vanderver A. : TUBB4A de novo mutations cause isolated hypomyelination.   Neurology August 2014.

Pellegrino R, Kavakli IH, Goel N, Cardinale CJ, Dinges DF, Kuna ST, Maislin G, Van Dongen HP, Tufik S, Hogenesch JB, Hakonarson H, Pack AI.: A Novel BHLHE41 Variant is Associated with Short Sleep and Resistance to Sleep Deprivation in Humans.  Sleep 37(8): 1327-36, August 2014.

Agopian AJ, Mitchell LE, Glessner J, Bhalla AD, Sewda A, Hakonarson H, Goldmuntz E.: Genome-wide association study of maternal and inherited Loci for conotruncal heart defects.    PLoS One. August 2014.

White PS, Xie HM, Werner P, Glessner J, Latney B, Hakonarson H, Goldmuntz E.: Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.  Birth Defects Res A Clin Mol Teratol July 2014.

Robinson EB, Kirby A, Ruparel K, Yang J, McGrath L, Anttila V, Neale BM, Merikangas K, Lehner T, Sleiman PM, Daly MJ, Gur R, Gur R, Hakonarson H. : The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort.   Mol Psychiatry July 2014.

Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H.: Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.  Clin Experiment Ophthalmol July 2014.

Holmes MV, Dale CE, Zuccolo L, Silverwood RJ, Guo Y, Ye Z, Prieto-Merino D, Dehghan A, Trompet S, Wong A, Cavadino A, Drogan D, Padmanabhan S, Li S, Yesupriya A, Leusink M, Sundstrom J, Hubacek JA, Pikhart H, Swerdlow DI, Panayiotou AG, Borinskaya SA, Finan C, Shah S, Kuchenbaecker KB, Shah T, Engmann J, Folkersen L, Eriksson P, Ricceri F, Melander O, Sacerdote C, Gamble DM, Rayaprolu S, Ross OA, McLachlan S, Vikhireva O, Sluijs I, Scott RA, Adamkova V, Flicker L, Bockxmeer FM, Power C, Marques-Vidal P, Meade T, Marmot MG, Ferro JM, Paulos-Pinheiro S, Humphries SE, Talmud PJ, Mateo Leach I, Verweij N, Linneberg A, Skaaby T, Doevendans PA, Cramer MJ, van der Harst P, Klungel OH, Dowling NF, Dominiczak AF, Kumari M, Nicolaides AN, Weikert C, Boeing H, Ebrahim S, Gaunt TR, Price JF, Lannfelt L, Peasey A, Kubinova R, Pajak A, Malyutina S, Voevoda MI, Tamosiunas A, Maitland-van der Zee AH, Norman PE, Hankey GJ, Bergmann MM, Hofman A, Franco OH, Cooper J, Palmen J, Spiering W, de Jong PA, Kuh D, Hardy R, Uitterlinden AG, Ikram MA, Ford I, Hyppönen E, Almeida OP, Wareham NJ, Khaw KT, Hamsten A, Husemoen LL, Tjønneland A, Tolstrup JS, Rimm E, Beulens JW, Verschuren WM, Onland-Moret NC, Hofker MH, Wannamethee SG, Whincup PH, Morris R, Vicente AM, Watkins H, Farrall M, Jukema JW, Meschia J, Cupples LA, Sharp SJ, Fornage M, Kooperberg C, LaCroix AZ, Dai JY, Lanktree MB, Siscovick DS, Jorgenson E, Spring B, Coresh J, Li YR, Buxbaum SG, Schreiner PJ, Ellison RC, Tsai MY, Patel SR, Redline S, Johnson AD, Hoogeveen RC, Hakonarson H, Rotter JI, Boerwinkle E, de Bakker PI, Kivimaki M, Asselbergs FW, Sattar N, Lawlor DA, Whittaker J, Davey Smith G, Mukamal K, Psaty BM, Wilson JG, Lange LA, Hamidovic A, Hingorani AD, Nordestgaard BG, Bobak M, Leon DA, Langenberg C, Palmer TM, Reiner AP, Keating BJ, Dudbridge F, Casas JP; InterAct Consortium.: Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data.  BMJ July 2014.

Soleimanpour SA, Gupta A, Bakay M, Ferrari AM, Groff DN, Fadista J, Spruce LA, Kushner JA, Groop L, Seeholzer SH, Kaufman BA, Hakonarson H*, Stoffers DA*.: The diabetes susceptibility gene clec16a regulates mitophagy.   Cell 157(7): 1577-90, Jun 2014.

Satterthwaite TD, Shinohara RT, Wolf DH, Hopson RD, Elliott MA, Vandekar SN, Ruparel K, Calkins ME, Roalf DR, Gennatas ED, Jackson C, Erus G, Prabhakaran K, Davatzikos C, Detre JA, Hakonarson H, Gur RC, Gur RE. : Impact of puberty on the evolution of cerebral perfusion during adolescence.     Proc Natl Acad Sci U S A. 111(23): 8643-8, Jun 2014.

Hadley D, Wu ZL, Kao C, Kini A, Mohamed-Hadley A, Thomas K, Vazquez L, Qiu H, Mentch F, Pellegrino R, Kim C, Connolly J; AGP Consortium, Glessner J, Hakonarson H.: The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.    Nat Commun Jun 2014.

Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Guo Y, Tian L, Palmieri F, Hakonarson H.  : Erratum: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.  JIMD Rep June 2014.

Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M; United Kingdom Brain Expression Consortium, Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, George-Hyslop PS, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FS, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E, Bonuccelli U, Mancuso M, Siciliano G, Moebus S, Mecocci P, Zompo MD, Maier W, Hampel H, Pilotto A, Frank-García A, Panza F, Solfrizzi V, Caffarra P, Nacmias B, Perry W, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Haines JL, Lathrop M, Pericak-Vance MA, Launer LJ, Van Broeckhoven C, Farrer LA, van Duijn CM, Ramirez A, Seshadri S, Schellenberg GD, Amouyel P, Williams J.: Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.   PLoS One June  2014.

Cook-Sather SD, Li J, Goebel TK, Sussman EM, Rehman MA, Hakonarson H. : TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population.   Pain. Jun 2014.

Vacic V, Ozelius LJ, Clark LN, Bar-Shira A, Gana-Weisz M, Gurevich T, Gusev A, Kedmi M, Kenny EE, Liu X, Mejia-Santana H, Mirelman A, Raymond D, Saunders-Pullman R, Desnick RJ, Atzmon G, Burns ER, Ostrer H, Hakonarson H, Bergman A, Barzilai N, Darvasi A, Peter I, Guha S, Lencz T, Giladi N, Marder K, Pe'er I, Bressman SB, Orr-Urtreger A: Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.   Hum Mol Genet. May 2014.

Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceição IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Rogé B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jiménez González P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Café C, Brennan S, Bourgeron T, Bolton PF, Bölte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW.: Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.   Am J Hum Genet. 94(5): 677-94, May 2014.

Li D, Opas EE, Tuluc F, Metzger DL, Hou C, Hakonarson H, Levine MA.  : Autosomal Dominant Hypoparathyroidism Caused by Germline Mutation in GNA11: Phenotypic and Molecular Characterization.    J Clin Endocrinol Metab. May 2014.

Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Russell MW, Hakonarson H, Gaynor JW, Jarvik GP.: Patient Genotypes Impact Survival After Surgery for Isolated Congenital Heart Disease.   Ann Thorac Surg.  May 2014.

Karayannis T, Au E, Patel JC, Kruglikov I, Markx S, Delorme R, Héron D, Salomon D, Glessner J, Restituito S, Gordon A, Rodriguez-Murillo L, Roy NC, Gogos JA, Rudy B, Rice ME, Karayiorgou M, Hakonarson H, Keren B, Huguet G, Bourgeron T, Hoeffer C, Tsien RW, Peles E, Fishell G.: Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission.    Nature May 2014.

Cardinale CJ, Wei Z, Li J, Zhu J, Gu M, Baldassano RN, Grant SF, Hakonarson H.: Transcriptome profiling of human ulcerative colitis mucosa reveals altered expression of pathways enriched in genetic susceptibility Loci.   PLoS One.  May  2014.

Almoguera B, Vazquez L, Connolly JJ, Bradfield J, Sleiman P, Keating B, Hakonarson H.: Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes.   Front Genet. May 2014.

Sleiman P, Bradfield J, Mentch F, Almoguera B, Connolly J, Hakonarson H. : Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts.    Front Genet. Apr 2014.

Roalf DR, Gur RE, Ruparel K, Calkins ME, Satterthwaite TD, Bilker WB, Hakonarson H, Harris LJ, Gur RC.: Within-individual variability in neurocognitive performance: Age- and sex-related differences in children and youths from ages 8 to 21.   Neuropsychology Apr 2014.

Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA. : Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.    Eur J Hum Genet. Apr 2014.

Wang X, Liu W, Sun CL, Armenian SH, Hakonarson H, Hageman L, Ding Y, Landier W, Blanco JG, Chen L, Quiñones A, Ferguson D, Winick N, Ginsberg JP, Keller F, Neglia JP, Desai S, Sklar CA, Castellino SM, Cherrick I, Dreyer ZE, Hudson MM, Robison LL, Yasui Y, Relling MV, Bhatia S.  : Hyaluronan Synthase 3 Variant and Anthracycline-Related Cardiomyopathy: A Report From the Children's Oncology Group. J Clin Oncol Mar 2014.

Tragante V, Barnes MR, Ganesh SK, Lanktree MB, Guo W, Franceschini N, Smith EN, Johnson T, Holmes MV, Padmanabhan S, Karczewski KJ, Almoguera B, Barnard J, Baumert J, Chang YP, Elbers CC, Farrall M, Fischer ME, Gaunt TR, Gho JM, Gieger C, Goel A, Gong Y, Isaacs A, Kleber ME, Mateo Leach I, McDonough CW, Meijs MF, Melander O, Nelson CP, Nolte IM, Pankratz N, Price TS, Shaffer J, Shah S, Tomaszewski M, van der Most PJ, Van Iperen EP, Vonk JM, Witkowska K, Wong CO, Zhang L, Beitelshees AL, Berenson GS, Bhatt DL, Brown M, Burt A, Cooper-Dehoff RM, Connell JM, Cruickshanks KJ, Curtis SP, Davey-Smith G, Delles C, Gansevoort RT, Guo X, Haiqing S, Hastie CE, Hofker MH, Hovingh GK, Kim DS, Kirkland SA, Klein BE, Klein R, Li YR, Maiwald S, Newton-Cheh C, O'Brien ET, Onland-Moret NC, Palmas W, Parsa A, Penninx BW, Pettinger M, Vasan RS, Ranchalis JE, M Ridker P, Rose LM, Sever P, Shimbo D, Steele L, Stolk RP, Thorand B, Trip MD, van Duijn CM, Verschuren WM, Wijmenga C, Wyatt S, Young JH, Zwinderman AH, Bezzina CR, Boerwinkle E, Casas JP, Caulfield MJ, Chakravarti A, Chasman DI, Davidson KW, Doevendans PA, Dominiczak AF, Fitzgerald GA, Gums JG, Fornage M, Hakonarson H, Halder I, Hillege HL, Illig T, Jarvik GP, Johnson JA, Kastelein JJ, Koenig W, Kumari M, März W, Murray SS, O'Connell JR, Oldehinkel AJ, Pankow JS, Rader DJ, Redline S, Reilly MP, Schadt EE, Kottke-Marchant K, Snieder H, Snyder M, Stanton AV, Tobin MD, Uitterlinden AG, van der Harst P, van der Schouw YT, Samani NJ, Watkins H, Johnson AD, Reiner AP, Zhu X, de Bakker PI, Levy D, Asselbergs FW, Munroe PB, Keating BJ.  : Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci.  Am J Hum Genet Mar 2014.

Satterthwaite TD, Wolf DH, Roalf DR, Ruparel K, Erus G, Vandekar S, Gennatas ED, Elliott MA, Smith A, Hakonarson H, Verma R, Davatzikos C, Gur RE, Gur RC.   : Linked Sex Differences in Cognition and Functional Connectivity in Youth. Cereb Cortex Mar 2014.

Satterthwaite TD, Vandekar S, Wolf DH, Ruparel K, Roalf DR, Jackson C, Elliott MA, Bilker WB, Calkins ME, Prabhakaran K, Davatzikos C, Hakonarson H, Gur RE, Gur RC.  : Sex differences in the effect of puberty on hippocampal morphology.  J Am Acad Child Adolesc Psychiatry. Mar 2014.

Purkey MT, Li J, Mentch F, Grant SF, Desrosiers M, Hakonarson H*, Toskala E*. : Genetic variation in genes encoding airway epithelial potassium channels is associated with chronic rhinosinusitis in a pediatric population.     PLoS One Mar 2014.

Li M, Jia C, Kazmierkiewicz KL, Bowman AS, Tian L, Liu Y, Gupta NA, Gudsieva HV, Yee SS, Kim M, Dentchev T, Kimble JA, Parker JS, Messinger JD, Hakonarson H, Curcio CA, Stambolian D.   : Comprehensive Analysis of Gene Expression in Human Retina and Supporting Tissues. Hum Mol Genet. Mar 2014.

Diskin SJ, Capasso M, Diamond M, Oldridge DA, Conkrite K, Bosse KR, Russell MR, Iolascon A, Hakonarson H, Devoto M, Maris JM.: Rare Variants in TP53 and Susceptibility to Neuroblastoma.    J Natl Cancer Inst. Mar 2014.

Araujo AN, Moraes L, França MI, Hakonarson H, Li J, Pellegrino R, Maciel RM, Cerutti JM.  : Genome-Wide Copy Number Analysis in a Family with p.G533C RET Mutation and Medullary Thyroid Carcinoma Identified Regions Potentially Associated with a Higher Predisposition to Lymph Node Metastasis. J Clin Endocrinol Metab Mar 2014.

The Wellcome Trust Case Control Consortium 3.  : A genome-wide association study of anorexia nervosa.  Mol Psychiatry Feb 2014.

St Pourcain B, Skuse DH, Mandy WP, Wang K, Hakonarson H, Timpson NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding J, Smith GD.   : Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. Mol Autism Feb 2014.

Ingalhalikar M, Smith A, Parker D, Satterthwaite TD, Elliott MA, Ruparel K, Hakonarson H, Gur RE, Gur RC, Verma R.   : Reply to Joel and Tarrasch: On misreading and shooting the messenger. Proc Natl Acad Sci Feb 2014.

Holmes MV, Lange LA, Palmer T, Lanktree MB, North KE, Almoguera B, Buxbaum S, Chandrupatla HR, Elbers CC, Guo Y, Hoogeveen RC, Li J, Li YR, Swerdlow DI, Cushman M, Price TS, Curtis SP, Fornage M, Hakonarson H, Patel SR, Redline S, Siscovick DS, Tsai MY, Wilson JG, van der Schouw YT, Fitzgerald GA, Hingorani AD, Casas JP, de Bakker PI, Rich SS, Schadt EE, Asselbergs FW, Reiner AP, Keating BJ. : Causal effects of body mass index on cardiometabolic traits and events: a mendelian randomization analysis. Am J Hum Genet Feb 2014.

Gur RC, Calkins ME, Satterthwaite TD, Ruparel K, Bilker WB, Moore TM, Savitt AP, Hakonarson H, Gur RE. : Neurocognitive Growth Charting in Psychosis Spectrum Youths. JAMA Psychiatry Feb 2014.

Guo Y, Prokudin I, Yu C, Liang J, Xie Y, Flaherty M, Tan L, Crofts S, Wang F, Snyder J, Donaldson C, Abdel-Magid N, Vazquez L, Keating B, Hakonarson H*, Wang J*, Jamieson RV*.  : Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. Ophthalmic Genet Feb 2014.

GCAN.  : Using ancestry-informative markers to identify fine structure across 15 populations of European origin. Eur J Hum Genet Feb 2014.

Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Guo Y, Tian L, Palmieri F, Hakonarson H. : AGC1 deficiency causes infantile epilepsy, abnormal myelination, and reduced N-acetylaspartate.    JIMD Rep Feb 2014.

Yoneyama S, Guo Y, Lanktree MB, Barnes MR, Elbers CC, Karczewski KJ, Padmanabhan S, Bauer F, Baumert J, Beitelshees A, Berenson GS, Boer JM, Burke G, Cade B, Chen W, Cooper-Dehoff RM, Gaunt TR, Gieger C, Gong Y, Gorski M, Heard-Costa N, Johnson T, Lamonte MJ, McDonough C, Monda KL, Onland-Moret NC, Nelson CP, O'Connell JR, Ordovas J, Peter I, Peters A, Shaffer J, Shen H, Smith E, Speilotes L, Thomas F, Thorand B, Monique Verschuren WM, Anand SS, Dominiczak A, Davidson KW, Hegele RA, Heid I, Hofker MH, Huggins GS, Illig T, Johnson JA, Kirkland S; the Look AHEAD Research Group, König W, Langaee TY, McCaffery J, Melander O, Mitchell BD, Munroe P, Murray SS, Papanicolaou G, Redline S, Reilly M, Samani NJ, Schork NJ, Van Der Schouw YT, Shimbo D, Shuldiner AR, Tobin MD, Wijmenga C, Yusuf S; the GIANT Consortium; the CARe IBC Consortium, Hakonarson H, Lange LA, Demerath EW, Fox CS, North KE, Reiner AP, Keating B, Taylor KC.  : Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations. Hum Mol Genet Jan 2014.

Wang X, Liu W, Sun CL, Armenian SH, Hakonarson H, Hageman L, Ding Y, Landier W, Blanco JG, Chen L, Quiñones A, Ferguson D, Winick N, Ginsberg JP, Keller F, Neglia JP, Desai S, Sklar CA, Castellino SM, Cherrick I, Dreyer ZE, Hudson MM, Robison LL, Yasui Y, Relling MV, Bhatia S.   : Hyaluronan Synthase 3 Variant and Anthracycline-Related Cardiomyopathy: A Report From the Children's Oncology Group. J Clin Oncol.  Jan 2014.

Sartori DJ, Wilbur CJ, Long SY, Rankin MM, Li C, Bradfield JP, Hakonarson H, Grant SF, Pu WT, Kushner JA.  : GATA Factors Promote ER Integrity and β-Cell Survival and Contribute to Type 1 Diabetes Risk. Mol Endocrinol Jan 2014.

Matsunami N, Hensel CH, Baird L, Stevens J, Otterud B, Leppert T, Varvil T, Hadley D, Glessner JT, Pellegrino R, Kim C, Thomas K, Wang F, Otieno FG, Ho K, Christensen GB, Li D, Prekeris R, Lambert CG, Hakonarson H, Leppert MF. : Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population. Mol Autism Jan 2014.

Kaiser FJ, Ansari M, Braunholz D, Gil-Rodríguez MC, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA.   : Loss of Function HDAC8 Mutations Cause a Phenotypic Spectrum of Cornelia de Lange Syndrome-like Features, Ocular Hypertelorism, Large Fontanelle and X-linked Inheritance. Hum Mol Genet. Jan 2014.

Erus G, Battapady H, Satterthwaite TD, Hakonarson H, Gur RE, Davatzikos C, Gur RC.   : Imaging Patterns of Brain Development and their Relationship to Cognition. Cereb Cortex Jan 2014.

Bønnelykke K, Sleiman P, Nielsen K, Kreiner-Møller E, Mercader JM, Belgrave D, den Dekker HT, Husby A, Sevelsted A, Faura-Tellez G, Mortensen LJ, Paternoster L, Flaaten R, Mølgaard A, Smart DE, Thomsen PF, Rasmussen MA, Bonàs-Guarch S, Holst C, Nohr EA, Yadav R, March ME, Blicher T, Lackie PM, Jaddoe VW, Simpson A, Holloway JW, Duijts L, Custovic A, Davies DE, Torrents D, Gupta R, Hollegaard MV, Hougaard DM, Hakonarson H*, Bisgaard H*.  : A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations. Nat Genet Jan 2014.

2013

van der Valk RJ, Duijts L, Timpson NJ, Salam MT, Standl M, Curtin JA, Genuneit J, Kerhof M, Kreiner-Møller E, Cáceres A, Gref A, Liang LL, Taal HR, Bouzigon E, Demenais F, Nadif R, Ober C, Thompson EE, Estrada K, Hofman A, Uitterlinden AG, van Duijn C, Rivadeneira F, Li X, Eckel SP, Berhane K, Gauderman WJ, Granell R, Evans DM, St Pourcain B, McArdle W, Kemp JP, Smith GD, Tiesler CM, Flexeder C, Simpson A, Murray CS, Fuchs O, Postma DS, Bønnelykke K, Torrent M, Andersson M, Sleiman P, Hakonarson H, Cookson WO, Moffatt MF, Paternoster L, Melén E, Sunyer J, Bisgaard H, Koppelman GH, Ege M, Custovic A, Heinrich J, Gilliland FD, Henderson AJ, Jaddoe VW, de Jongste JC; for the EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium.  : Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.  J Allergy Clin Immunol Dec 2013.

Siracusa MC, Saenz SA, Tait Wojno ED, Kim BS, Osborne LC, Ziegler CG, Benitez AJ, Ruymann KR, Farber DL, Sleiman PM, Hakonarson H, Cianferoni A, Wang ML, Spergel JM, Comeau MR, Artis D.  : Thymic stromal lymphopoietin-mediated extramedullary hematopoiesis promotes allergic inflammation.  Immunity Dec 2013.

Shi Lingling, Zhang Xu, Golhar Ryan, Otieno Frederick G, He Mingze, Hou Cuiping, Kim Cecilia, Keating Brendan, Lyon Gholson J, Wang Kai, Hakonarson Hakon: Whole-genome sequencing in an autism multiplex family. Molecular autism 4(1): 8, 4 2013.

Mechelli Rosella, Umeton Renato, Policano Claudia, Annibali Viviana, Coarelli Giulia, Ricigliano Vito A G, Vittori Danila, Fornasiero Arianna, Buscarinu Maria Chiara, Romano Silvia, Salvetti Marco, Ristori Giovanni: A "candidate-interactome" aggregate analysis of genome-wide association data in multiple sclerosis. PloS one 8(5): e63300, 2013.

March Michael E, Sleiman Patrick Ma, Hakonarson Hakon: Genetic polymorphisms and associated susceptibility to asthma. International journal of general medicine 6: 253-65, 2013.

Keller M, Glessner J, Resnick E, Perez E, Chapel H, Lucas M, Sullivan KE, Cunningham-Rundles C, Orange JS, Hakonarson H.  : Burden of Copy Number Variation in Common Variable Immunodeficiency. Clin Exp Immunol Dec 2013.

Ingalhalikar M, Smith A, Parker D, Satterthwaite TD, Elliott MA, Ruparel K, Hakonarson H, Gur RE, Gur RC, Verma R. : Sex differences in the structural connectome of the human brain. Proc Natl Acad Sci  Dec 2013.

Erdmann J, Stark K, Esslinger UB, Rumpf PM, Koesling D, de Wit C, Kaiser FJ, Braunholz D, Medack A, Fischer M, Zimmermann ME, Tennstedt S, Graf E, Eck S, Aherrahrou Z, Nahrstaedt J, Willenborg C, Bruse P, Brænne I, Nöthen MM, Hofmann P, Braund PS, Mergia E, Reinhard W, Burgdorf C, Schreiber S, Balmforth AJ, Hall AS, Bertram L, Steinhagen-Thiessen E, Li SC, März W, Reilly M, Kathiresan S, McPherson R, Walter U; CARDIoGRAM, Ott J, Samani NJ, Strom TM, Meitinger T, Hengstenberg C, Schunkert H, Assimes TL, Deloukas P, Holm H, König IR, Roberts R, Stewart AF.    : Dysfunctional nitric oxide signalling increases risk of myocardial infarction. Nature  Dec 2013.

Chawes BL, Bischoff AL, Kreiner-Møller E, Buchvald F, Hakonarson H, Bisgaard H.  : DENND1B gene variants associate with elevated exhaled nitric oxide in healthy high-risk neonates. Pediatr Pulmonol Dec 2013.

Best Lyle G, Saxena Richa, Anderson Cindy M, Barnes Michael R, Hakonarson Hakon, Falcon Gilbert, Martin Candelaria, Castillo Berta Almoguera, Karumanchi Ananth, Keplin Kylie, Pearson Nichole, Lamb Felicia, Bercier Shellee, Keating Brendan J: Two variants of the C-reactive protein gene are associated with risk of pre-eclampsia in an american Indian population. PloS one 8(8): e71231, 2013.

Ridge PG, Mukherjee S, Crane PK, Kauwe JS; Alzheimer's Disease Genetics Consortium.    : Alzheimer's disease: analyzing the missing heritability. PLoS One. Nov 2013.

International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J, Fontaine B, Hemmer B, Martin C, Zipp F, D'Alfonso S, Martinelli-Boneschi F, Taylor B, Harbo HF, Kockum I, Hillert J, Olsson T, Ban M, Oksenberg JR, Hintzen R, Barcellos LF; Wellcome Trust Case Control Consortium 2 (WTCCC2); International IBD Genetics Consortium (IIBDGC), Agliardi C, Alfredsson L, Alizadeh M, Anderson C, Andrews R, Søndergaard HB, Baker A, Band G, Baranzini SE, Barizzone N, Barrett J, Bellenguez C, Bergamaschi L, Bernardinelli L, Berthele A, Biberacher V, Binder TM, Blackburn H, Bomfim IL, Brambilla P, Broadley S, Brochet B, Brundin L, Buck D, Butzkueven H, Caillier SJ, Camu W, Carpentier W, Cavalla P, Celius EG, Coman I, Comi G, Corrado L, Cosemans L, Cournu-Rebeix I, Cree BA, Cusi D, Damotte V, Defer G, Delgado SR, Deloukas P, di Sapio A, Dilthey AT, Donnelly P, Dubois B, Duddy M, Edkins S, Elovaara I, Esposito F, Evangelou N, Fiddes B, Field J, Franke A, Freeman C, Frohlich IY, Galimberti D, Gieger C, Gourraud PA, Graetz C, Graham A, Grummel V, Guaschino C, Hadjixenofontos A, Hakonarson H, Halfpenny C, Hall G, Hall P, Hamsten A, Harley J, Harrower T, Hawkins C, Hellenthal G, Hillier C, Hobart J, Hoshi M, Hunt SE, Jagodic M, Jelčić I, Jochim A, Kendall B, Kermode A, Kilpatrick T, Koivisto K, Konidari I, Korn T, Kronsbein H, Langford C, Larsson M, Lathrop M, Lebrun-Frenay C, Lechner-Scott J, Lee MH, Leone MA, Leppä V, Liberatore G, Lie BA, Lill CM, Lindén M, Link J, Luessi F, Lycke J, Macciardi F, Männistö S, Manrique CP, Martin R, Martinelli V, Mason D, Mazibrada G, McCabe C, Mero IL, Mescheriakova J, Moutsianas L, Myhr KM, Nagels G, Nicholas R, Nilsson P, Piehl F, Pirinen M, Price SE, Quach H, Reunanen M, Robberecht W, Robertson NP, Rodegher M, Rog D, Salvetti M, Schnetz-Boutaud NC, Sellebjerg F, Selter RC, Schaefer C, Shaunak S, Shen L, Shields S, Siffrin V, Slee M, Sorensen PS, Sorosina M, Sospedra M, Spurkland A, Strange A, Sundqvist E, Thijs V, Thorpe J, Ticca A, Tienari P, van Duijn C, Visser EM, Vucic S, Westerlind H, Wiley JS, Wilkins A, Wilson JF, Winkelmann J, Zajicek J, Zindler E, Haines JL, Pericak-Vance MA, Ivinson AJ, Stewart G, Hafler D, Hauser SL, Compston A, McVean G, De Jager P, Sawcer SJ, McCauley JL. : Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.    Nat Genet. 45(11): 1353-60, Nov 2013.

Bønnelykke K, Sleiman P, Nielsen K, Kreiner-Møller E, Mercader JM, Belgrave D, den Dekker HT, Husby A, Sevelsted A, Faura-Tellez G, Mortensen LJ, Paternoster L, Flaaten R, Mølgaard A, Smart DE, Thomsen PF, Rasmussen MA, Bonàs-Guarch S, Holst C, Nohr EA, Yadav R, March ME, Blicher T, Lackie PM, Jaddoe VW, Simpson A, Holloway JW, Duijts L, Custovic A, Davies DE, Torrents D, Gupta R, Hollegaard MV, Hougaard DM, Hakonarson H*, Bisgaard H*. : A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.  Nat Genet.  Nov 2013.

Tsai EA, Grochowski CM, Loomes KM, Bessho K, Hakonarson H, Bezerra JA, Russo PA, Haber BA, Spinner NB, Devoto M. : Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Hum Genet.  Oct 2013.

Sleiman P, Wang D, Glessner J, Hadley D, Gur RE, Cohen N, Li Q, Hakonarson on behalf of the H; Janssen-CHOP Neuropsychiatric Genomics Working Group. : GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.  Sci Rep.   Oct 2013.

Satterthwaite TD, Wolf DH, Erus G, Ruparel K, Elliott MA, Gennatas ED, Hopson R, Jackson C, Prabhakaran K, Bilker WB, Calkins ME, Loughead J, Smith A, Roalf DR, Hakonarson H, Verma R, Davatzikos C, Gur RC, Gur RE. : Functional maturation of the executive system during adolescence.  J Neurosci.   33(41): 16249-61, Oct 2013.

Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ,Hakonarson H, Dobyns WB, Sherr EH. : Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.    PLoS Genet. Oct 2013.

Reitz C, Mayeux R; Alzheimer's Disease Genetics Consortium.   : TREM2 and neurodegenerative disease. N Engl J Med. 369(16): 1564-5, Oct 2013.

Lin H, Dolmatova EV, Morley MP, Lunetta KL, McManus DD, Magnani JW, Margulies KB,Hakonarson H, Del Monte F, Benjamin EJ, Cappola TP, Ellinor PT. : Gene Expression and Genetic Variation in Human Atria.   Heart Rhythm.(13), Oct 2013.

Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, Jun G, Destefano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, Schmidt H, Kunkle B, Dunstan ML, Ruiz A, Bihoreau MT, Choi SH, Reitz C, Pasquier F, Hollingworth P, Ramirez A, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Morón FJ, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Green R, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Sanchez-Garcia F, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Matthews F; European Alzheimer's Disease Initiative (EADI); Genetic and Environmental Risk in Alzheimer's Disease (GERAD); Alzheimer's Disease Genetic Consortium (ADGC); Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE), Moebus S, Mecocci P, Del Zompo M, Maier W, Hampel H, Pilotto A, Bullido M, Panza F, Caffarra P, Nacmias B, Gilbert JR, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Wang LS, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Jones L, Haines JL, Holmans PA, Lathrop M, Pericak-Vance MA, Launer LJ, Farrer LA, van Duijn CM, Van Broeckhoven C, Moskvina V, Seshadri S, Williams J, Schellenberg GD, Amouyel P.  : Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.    Nat Genet. oct 2013.

Kho AN, Rasmussen LV, Connolly JJ, Peissig PL, Starren J, Hakonarson H, Hayes MG. : Practical challenges in integrating genomic data into the electronic health record.  Genet Med.  15(10): 772-8, Oct 2013.

Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen AM, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O'Brien TJ, Meng Tan K, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PN, Koeleman BP, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber Y, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME; UK Brain Expression Consortium, Delanty N, Depondt C, Cavalleri GL, Kunz WS, Sisodiya SM. : Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.  Brain Page: 3140-50, Oct 2013.

Du Q, Wu J, Wang H, Wang X, Xu L, Zhang Z, Liu J, Zhang J, Chen J, Hakonarson H, Hu AH, Zhang L.  : Perindopril treatment promote left ventricle remodeling in patients with heart failure screened positive for autoantibodies against angiotensin II type 1 receptor. BMC Cardiovasc Disord 13(1): 94, Oct 2013.

Cardinale CJ, Wei Z, Panossian S, Wang F, Kim CE, Mentch FD, Chiavacci RM, Kachelries KE, Pandey R, Grant SF, Baldassano RN, Hakonarson H. : Targeted resequencing identifies defective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease.  Genes Immun.  Page: 447-52, Oct 2013.

Babushok DV, Xie HM, Roth JJ, Perdigones N, Olson TS, Cockroft JD, Gai X, Perin JC, Li Y, Paessler ME, Hakonarson H, Podsakoff GM, Mason PJ, Biegel JA, Bessler M. : Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes.   Br J Haematol. Oct 2013.

Tsai Ellen A, Berman Micah A, Conlin Laura K, Rehm Heidi L, Francey Lauren J, Deardorff Matthew A, Holst Jenelle, Kaur Maninder, Gallant Emily, Clark Dinah M, Glessner Joseph T, Jensen Shane T, Grant Struan F A, Gruber Peter J, Hakonarson Hakon, Spinner Nancy B, Krantz Ian D: PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. American journal of medical genetics. Part A 161(9): 2134-47, Sep 2013.

St Pourcain B, Whitehouse AJ, Ang WQ, Warrington NM, Glessner JT, Wang K, Timpson NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding J, Hakonarson H, Pennell CE, Smith GD. : Common variation contributes to the genetic architecture of social communication traits.  Mol Autism.  4(1): 34, Sep 2013.

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Ong BA, Li J, McDonough JM, Wei Z, Kim C, Chiavacci R, Mentch F, Caboot JB, Spergel J, Allen JL, Sleiman PM, Hakonarson H. : Gene network analysis in a pediatric cohort identifies novel lung function genes.  PLoS One.  8(9), Sep 2013.

Gallant Emily, Francey Lauren, Tsai Ellen A, Berman Micah, Zhao Yaru, Fetting Heather, Kaur Maninder, Deardorff Matthew A, Wilkens Alisha, Clark Dinah, Hakonarson Hakon, Rehm Heidi L, Krantz Ian D: Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations. Am J Med Genet A 161(9): 2148-57, Sep 2013.

Chatsuriyawong S, Gozal D, Kheirandish-Gozal L, Bhattacharjee R, Khalyfa AA, Wang Y,Hakonarson H, Keating B, Sukhumsirichart W, Khalyfa A. : Genetic variance in Nitric Oxide Synthase and Endothelin Genes among children with and without Endothelial Dysfunction.  J Transl Med.  11(1), Sep 2013.

Best LG, Saxena R, Anderson CM, Barnes MR, Hakonarson H, Falcon G, Martin C, Castillo BA, Karumanchi A, Keplin K, Pearson N, Lamb F, Bercier S, Keating BJ. : Correction: Two Variants of the C-Reactive Protein Gene Are Associated with Risk of Pre-Eclampsia in an American Indian Population.   PLoS One.  8(9), Sep 2013.

Beaudoin M, Goyette P, Boucher G, Lo KS, Rivas MA, Stevens C, Alikashani A, Ladouceur M, Ellinghaus D, Törkvist L, Goel G, Lagacé C, Annese V, Bitton A, Begun J, Brant SR, Bresso F, Cho JH, Duerr RH, Halfvarson J, McGovern DP, Radford-Smith G, Schreiber S, Schumm PL, Sharma Y, Silverberg MS, Weersma RK; Quebec IBD Genetics Consortium; NIDDK IBD Genetics Consortium; International IBD Genetics Consortium, D'Amato M, Vermeire S, Franke A, Lettre G, Xavier RJ, Daly MJ, Rioux JD. : Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.  PLoS Genet.  9(9), Sep 2013.

Satterthwaite Theodore D, Elliott Mark A, Ruparel Kosha, Loughead James, Prabhakaran Karthik, Calkins Monica E, Hopson Ryan, Jackson Chad, Keefe Jack, Riley Marisa, Mensh Frank D, Sleiman Patrick, Verma Ragini, Davatzikos Christos, Hakonarson Hakon, Gur Ruben C, Gur Raquel E: Neuroimaging of the Philadelphia Neurodevelopmental Cohort. NeuroImage Aug 2013.

Noti Mario, Wojno Elia D Tait, Kim Brian S, Siracusa Mark C, Giacomin Paul R, Nair Meera G, Benitez Alain J, Ruymann Kathryn R, Muir Amanda B, Hill David A, Chikwava Kudakwashe R, Moghaddam Amin E, Sattentau Quentin J, Alex Aneesh, Zhou Chao, Yearley Jennifer H, Menard-Katcher Paul, Kubo Masato, Obata-Ninomiya Kazushige, Karasuyama Hajime, Comeau Michael R, Brown-Whitehorn Terri, de Waal Malefyt Rene, Sleiman Patrick M, Hakonarson Hakon, Cianferoni Antonella, Falk Gary W, Wang Mei-Lun, Spergel Jonathan M, Artis David: Thymic stromal lymphopoietin-elicited basophil responses promote eosinophilic esophagitis. Nature medicine 19(8): 1005-13, Aug 2013.

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Hou Dongyan, Chen Ying, Liu Jiamei, Xu Lin, Zhang Zhiyong, Zhang Juan, Wang Hua, Wang Xin, Chen Jin, Zhao Rongrui, Hu Aihua, Hakonarson Hakon, Zhang Lin, Shen Yan: Proteomics screen to reveal molecular changes mediated by C722G missense mutation in CHRM2 gene. Journal of proteomics 89: 39-50, Aug 2013.

Hamshere Marian L, Langley Kate, Martin Joanna, Agha Sharifah Shameem, Stergiakouli Evangelia, Anney Richard J L, Buitelaar Jan, Faraone Stephen V, Lesch Klaus-Peter, Neale Benjamin M, Franke Barbara, Sonuga-Barke Edmund, Asherson Philip, Merwood Andrew, Kuntsi Jonna, Medland Sarah E, Ripke Stephan, Steinhausen Hans-Christoph, Freitag Christine, Reif Andreas, Renner Tobias J, Romanos Marcel, Romanos Jasmin, Warnke Andreas, Meyer Jobst, Palmason Haukur, Vasquez Alejandro Arias, Lambregts-Rommelse Nanda, Roeyers Herbert, Biederman Joseph, Doyle Alysa E, Hakonarson Hakon, Rothenberger Aribert, Banaschewski Tobias, Oades Robert D, McGough James J, Kent Lindsey, Williams Nigel, Owen Michael J, Holmans Peter, O'Donovan Michael C, Thapar Anita: High loading of polygenic risk for ADHD in children with comorbid aggression. American journal of psychiatry 170(8): 909-16, Aug 2013.

Cardinale C J, Wei Z, Panossian S, Wang F, Kim C E, Mentch F D, Chiavacci R M, Kachelries K E, Pandey R, Grant S F A, Baldassano R N, Hakonarson H: Targeted resequencing identifies defective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease. Genes and immunity Aug 2013.

Zhang W, Hui K Y, Gusev A, Warner N, Ng S M E, Ferguson J, Choi M, Burberry A, Abraham C, Mayer L, Desnick R J, Cardinale C J, Hakonarson H, Waterman M, Chowers Y, Karban A, Brant S R, Silverberg M S, Gregersen P K, Katz S, Lifton R P, Zhao H, Nuñez G, Pe'er I, Peter I, Cho J H: Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3. Genes and immunity 14(5): 310-6, Jul 2013.

Wang Kai, Kim Cecilia, Bradfield Jonathan, Guo Yunfei, Toskala Elina, Otieno Frederick G, Hou Cuiping, Thomas Kelly, Cardinale Christopher, Lyon Gholson L, Golhar Ryan, Hakonarson Hakon: Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement. Genome medicine 5(7): 67, Jul 2013.

Pinney Sara E, Ganapathy Karthik, Bradfield Jonathan, Stokes David, Sasson Ariella, Mackiewicz Katarzyna, Boodhansingh Kara, Hughes Nkecha, Becker Susan, Givler Stephanie, Macmullen Courtney, Monos Dimitrios, Ganguly Arupa, Hakonarson Hakon, Stanley Charles A: Dominant Form of Congenital Hyperinsulinism Maps to HK1 Region on 10q. Hormone research in pædiatrics 80(1): 18-27, Jul 2013.

Dastani Zari, Johnson Toby, Kronenberg Florian, Nelson Christopher P, Assimes Themistocles L, März Winfried, Richards J Brent: The shared allelic architecture of adiponectin levels and coronary artery disease. Atherosclerosis 229(1): 145-8, Jul 2013.

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Al Daama Saad A, Housawi Yousef H, Dridi Walid, Sager Mohammed, Otieno F George, Hou Cuiping, Vasquez Lyam, Kim Cecilia, Tian Lifeng, Sleiman Patrick, Hakonarson Hakon: A missense mutation in ANKRD26 segregates with thrombocytopenia. Blood 122(3): 461-2, Jul 2013.

Zaidi Samir, Choi Murim, Wakimoto Hiroko, Ma Lijiang, Jiang Jianming, Overton John D, Romano-Adesman Angela, Bjornson Robert D, Breitbart Roger E, Brown Kerry K, Carriero Nicholas J, Cheung Yee Him, Deanfield John, DePalma Steve, Fakhro Khalid A, Glessner Joseph, Hakonarson Hakon, Italia Michael J, Kaltman Jonathan R, Kaski Juan, Kim Richard, Kline Jennie K, Lee Teresa, Leipzig Jeremy, Lopez Alexander, Mane Shrikant M, Mitchell Laura E, Newburger Jane W, Parfenov Michael, Pe'er Itsik, Porter George, Roberts Amy E, Sachidanandam Ravi, Sanders Stephan J, Seiden Howard S, State Mathew W, Subramanian Sailakshmi, Tikhonova Irina R, Wang Wei, Warburton Dorothy, White Peter S, Williams Ismee A, Zhao Hongyu, Seidman Jonathan G, Brueckner Martina, Chung Wendy K, Gelb Bruce D, Goldmuntz Elizabeth, Seidman Christine E, Lifton Richard P: De novo mutations in histone-modifying genes in congenital heart disease. Nature 498(7453): 220-3, Jun 2013.

Satterthwaite Theodore D, Wolf Daniel H, Ruparel Kosha, Erus Guray, Elliott Mark A, Eickhoff Simon B, Gennatas Efstathios D, Jackson Chad, Prabhakaran Karthik, Smith Alex, Hakonarson Hakon, Verma Ragini, Davatzikos Christos, Gur Raquel E, Gur Ruben C: Heterogeneous impact of motion on fundamental patterns of developmental changes in functional connectivity during youth. NeuroImage 83C: 45-57, Jun 2013.

Monda Keri L, Chen Gary K, Taylor Kira C, Palmer Cameron, Edwards Todd L, Lange Leslie A, Ng Maggie C Y, Adeyemo Adebowale A, Allison Matthew A, Bielak Lawrence F, Chen Guanjie, Graff Mariaelisa, Irvin Marguerite R, Rhie Suhn K, Li Guo, Liu Yongmei, Liu Youfang, Lu Yingchang, Nalls Michael A, Sun Yan V, Wojczynski Mary K, Yanek Lisa R, Aldrich Melinda C, Ademola Adeyinka, Amos Christopher I, Bandera Elisa V, Bock Cathryn H, Britton Angela, Broeckel Ulrich, Cai Quiyin, Caporaso Neil E, Carlson Chris S, Carpten John, Casey Graham, Chen Wei-Min, Chen Fang, Chen Yii-Der I, Chiang Charleston W K, Coetzee Gerhard A, Demerath Ellen, Deming-Halverson Sandra L, Driver Ryan W, Dubbert Patricia, Feitosa Mary F, Feng Ye, Freedman Barry I, Gillanders Elizabeth M, Gottesman Omri, Guo Xiuqing, Haritunians Talin, Harris Tamara, Harris Curtis C, Hennis Anselm J M, Hernandez Dena G, McNeill Lorna H, Howard Timothy D, Howard Barbara V, Howard Virginia J, Johnson Karen C, Kang Sun J, Keating Brendan J, Kolb Suzanne, Kuller Lewis H, Kutlar Abdullah, Langefeld Carl D, Lettre Guillaume, Lohman Kurt, Lotay Vaneet, Lyon Helen, Manson Joann E, Maixner William, Meng Yan A, Monroe Kristine R, Morhason-Bello Imran, Murphy Adam B, Mychaleckyj Josyf C, Nadukuru Rajiv, Nathanson Katherine L, Nayak Uma, N'diaye Amidou, Nemesure Barbara, Wu Suh-Yuh, Leske M Cristina, Neslund-Dudas Christine, Neuhouser Marian, Nyante Sarah, Ochs-Balcom Heather, Ogunniyi Adesola, Ogundiran Temidayo O, Ojengbede Oladosu, Olopade Olufunmilayo I, Palmer Julie R, Ruiz-Narvaez Edward A, Palmer Nicholette D, Press Michael F, Rampersaud Evandine, Rasmussen-Torvik Laura J, Rodriguez-Gil Jorge L, Salako Babatunde, Schadt Eric E, Schwartz Ann G, Shriner Daniel A, Siscovick David, Smith Shad B, Wassertheil-Smoller Sylvia, Speliotes Elizabeth K, Spitz Margaret R, Sucheston Lara, Taylor Herman, Tayo Bamidele O, Tucker Margaret A, Van Den Berg David J, Edwards Digna R Velez, Wang Zhaoming, Wiencke John K, Winkler Thomas W, Witte John S, Wrensch Margaret, Wu Xifeng, Yang James J, Levin Albert M, Young Taylor R, Zakai Neil A, Cushman Mary, Zanetti Krista A, Zhao Jing Hua, Zhao Wei, Zheng Yonglan, Zhou Jie, Ziegler Regina G, Zmuda Joseph M, Fernandes Jyotika K, Gilkeson Gary S, Kamen Diane L, Hunt Kelly J, Spruill Ida J, Ambrosone Christine B, Ambs Stefan, Arnett Donna K, Atwood Larry, Becker Diane M, Berndt Sonja I, Bernstein Leslie, Blot William J, Borecki Ingrid B, Bottinger Erwin P, Bowden Donald W, Burke Gregory, Chanock Stephen J, Cooper Richard S, Ding Jingzhong, Duggan David, Evans Michele K, Fox Caroline, Garvey W Timothy, Bradfield Jonathan P, Hakonarson Hakon, Grant Struan F A, Hsing Ann, Chu Lisa, Hu Jennifer J, Huo Dezheng, Ingles Sue A, John Esther M, Jordan Joanne M, Kabagambe Edmond K, Kardia Sharon L R, Kittles Rick A, Goodman Phyllis J, Klein Eric A, Kolonel Laurence N, Le Marchand Loic, Liu Simin, McKnight Barbara, Millikan Robert C, Mosley Thomas H, Padhukasahasram Badri, Williams L Keoki, Patel Sanjay R, Peters Ulrike, Pettaway Curtis A, Peyser Patricia A, Psaty Bruce M, Redline Susan, Rotimi Charles N, Rybicki Benjamin A, Sale Michèle M, Schreiner Pamela J, Signorello Lisa B, Singleton Andrew B, Stanford Janet L, Strom Sara S, Thun Michael J, Vitolins Mara, Zheng Wei, Moore Jason H, Williams Scott M, Ketkar Shamika, Zhu Xiaofeng, Zonderman Alan B, Kooperberg Charles, Papanicolaou George J, Henderson Brian E, Reiner Alex P, Hirschhorn Joel N, Loos Ruth J F, North Kari E, Haiman Christopher A: A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nature genetics 45(6): 690-6, Jun 2013.

Mitchell Jonathan A, Hakonarson Hakon, Rebbeck Timothy R, Grant Struan F A: Obesity-susceptibility loci and the tails of the pediatric BMI distribution. Obesity (Silver Spring, Md.) 21(6): 1256-60, Jun 2013.

Gur R E, Kaltman D, Melhem E R, Ruparel K, Prabhakaran K, Riley M, Yodh E, Hakonarson H, Satterthwaite T, Gur R C: Incidental Findings in Youths Volunteering for Brain MRI Research. AJNR. American journal of neuroradiology Jun 2013.

Chen Zhao, Tang Hua, Qayyum Rehan, Schick Ursula M, Nalls Michael A, Handsaker Robert, Li Jin, Lu Yingchang, Yanek Lisa R, Keating Brendan, Meng Yan, van Rooij Frank J A, Okada Yukinori, Kubo Michiaki, Rasmussen-Torvik Laura, Keller Margaux F, Lange Leslie, Evans Michele, Bottinger Erwin P, Linderman Michael D, Ruderfer Douglas M, Hakonarson Hakon, Papanicolaou George, Zonderman Alan B, Gottesman Omri, Thomson Cynthia, Ziv Elad, Singleton Andrew B, Loos Ruth J F, Sleiman Patrick M A, Ganesh Santhi, McCarroll Steven, Becker Diane M, Wilson James G, Lettre Guillaume, Reiner Alexander P: Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. Human molecular genetics 22(12): 2529-38, Jun 2013.

Wei Zhi, Wang Wei, Bradfield Jonathan, Li Jin, Cardinale Christopher, Frackelton Edward, Kim Cecilia, Mentch Frank, Van Steen Kristel, Visscher Peter M, Baldassano Robert N, Hakonarson Hakon: Large Sample Size, Wide Variant Spectrum, and Advanced Machine-Learning Technique Boost Risk Prediction for Inflammatory Bowel Disease. American journal of human genetics May 2013.

Martignetti John A, Tian Lifeng, Li Dong, Ramirez Maria Celeste M, Camacho-Vanegas Olga, Camacho Sandra Catalina, Guo Yiran, Zand Dina J, Bernstein Audrey M, Masur Sandra K, Kim Cecilia E, Otieno Frederick G, Hou Cuiping, Abdel-Magid Nada, Tweddale Ben, Metry Denise, Fournet Jean-Christophe, Papp Eniko, McPherson Elizabeth W, Zabel Carrie, Vaksmann Guy, Morisot Cyril, Keating Brendan, Sleiman Patrick M, Cleveland Jeffrey A, Everman David B, Zackai Elaine, Hakonarson Hakon: Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis. American journal of human genetics May 2013.

Lieb Wolfgang, Jansen Henning, Loley Christina, Pencina Michael J, Nelson Christopher P, Newton-Cheh Christopher, Kathiresan Sekar, Reilly Muredach P, Assimes Themistocles L, Boerwinkle Eric, Hall Alistair S, Hengstenberg Christian, Laaksonen Reijo, McPherson Ruth, Thorsteinsdottir Unnur, Ziegler Andreas, Peters Annette, Thompson John R, König Inke R, Erdmann Jeanette, Samani Nilesh J, Vasan Ramachandran S, Schunkert Heribert, Assimes Themistocles L, Deloukas Panos, Erdmann Jeanette, Holm Hilma, Kathiresan Sekar, König Inke R, McPherson Ruth, Reilly Muredach P, Roberts Robert, Samani Nilesh J, Schunkert Heribert, Stewart Alexandre F R: Genetic predisposition to higher blood pressure increases coronary artery disease risk. Hypertension 61(5): 995-1001, May 2013.

Hakonarson, H.: Network-Based Multiple Sclerosis Pathway Analysis with GWAS Data from 15,000 Cases and 30,000 Controls. American journal of human genetics May 2013.

Gallant Emily, Francey Lauren, Fetting Heather, Kaur Maninder, Hakonarson Hakon, Clark Dinah, Devoto Marcella, Krantz Ian D: Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus. American journal of otolaryngology 34(3): 230-5, May-Jun 2013.

D'Alessandro Lisa C A, Werner Petra, Xie Hongbo M, Hakonarson Hakon, White Peter S, Goldmuntz Elizabeth: The Prevalence of 16p12.1 Microdeletion in Patients with Left-sided Cardiac Lesions. Congenital heart disease May 2013.

Cui Shuang, Leyva-Vega Melissa, Tsai Ellen A, EauClaire Steven F, Glessner Joseph T, Hakonarson Hakon, Devoto Marcella, Haber Barbara A, Spinner Nancy B, Matthews Randolph P: Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene. Gastroenterology 144(5): 1107-1115.e3, May 2013.

Ahn K, Gotay N, Andersen T M, Anvari A A, Gochman P, Lee Y, Sanders S, Guha S, Darvasi A, Glessner J T, Hakonarson H, Lencz T, State M W, Shugart Y Y, Rapoport J L: High rate of disease-related copy number variations in childhood onset schizophrenia. Molecular psychiatry May 2013.

Smoller Jordan W, Craddock Nicholas, Kendler Kenneth, Lee Phil Hyoun, Neale Benjamin M, Nurnberger John I, Ripke Stephan, Santangelo Susan, Sullivan Patrick F: Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet 381(9875): 1371-9, Apr 2013.

Reitz Christiane, Jun Gyungah, Naj Adam, Rajbhandary Ruchita, Vardarajan Badri Narayan, Wang Li-San, Valladares Otto, Lin Chiao-Feng, Larson Eric B, Graff-Radford Neill R, Evans Denis, De Jager Philip L, Crane Paul K, Buxbaum Joseph D, Murrell Jill R, Raj Towfique, Ertekin-Taner Nilufer, Logue Mark, Baldwin Clinton T, Green Robert C, Barnes Lisa L, Cantwell Laura B, Fallin M Daniele, Go Rodney C P, Griffith Patrick, Obisesan Thomas O, Manly Jennifer J, Lunetta Kathryn L, Kamboh M Ilyas, Lopez Oscar L, Bennett David A, Hendrie Hugh, Hall Kathleen S, Goate Alison M, Byrd Goldie S, Kukull Walter A, Foroud Tatiana M, Haines Jonathan L, Farrer Lindsay A, Pericak-Vance Margaret A, Schellenberg Gerard D, Mayeux Richard: Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. JAMA : the journal of the American Medical Association 309(14): 1483-92, Apr 2013.

Miyashita Akinori, Koike Asako, Jun Gyungah, Wang Li-San, Takahashi Satoshi, Matsubara Etsuro, Kawarabayashi Takeshi, Shoji Mikio, Tomita Naoki, Arai Hiroyuki, Asada Takashi, Harigaya Yasuo, Ikeda Masaki, Amari Masakuni, Hanyu Haruo, Higuchi Susumu, Ikeuchi Takeshi, Nishizawa Masatoyo, Suga Masaichi, Kawase Yasuhiro, Akatsu Hiroyasu, Kosaka Kenji, Yamamoto Takayuki, Imagawa Masaki, Hamaguchi Tsuyoshi, Yamada Masahito, Moriaha Takashi, Takeda Masatoshi, Takao Takeo, Nakata Kenji, Fujisawa Yoshikatsu, Sasaki Ken, Watanabe Ken, Nakashima Kenji, Urakami Katsuya, Ooya Terumi, Takahashi Mitsuo, Yuzuriha Takefumi, Serikawa Kayoko, Yoshimoto Seishi, Nakagawa Ryuji, Kim Jong-Won, Ki Chang-Seok, Won Hong-Hee, Na Duk L, Seo Sang Won, Mook-Jung Inhee, St George-Hyslop Peter, Mayeux Richard, Haines Jonathan L, Pericak-Vance Margaret A, Yoshida Makiko, Nishida Nao, Tokunaga Katsushi, Yamamoto Ken, Tsuji Shoji, Kanazawa Ichiro, Ihara Yasuo, Schellenberg Gerard D, Farrer Lindsay A, Kuwano Ryozo: SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. PloS one 8(4): e58618, Apr 2013.

Li Jin, Glessner Joseph T, Zhang Haitao, Hou Cuiping, Wei Zhi, Bradfield Jonathan P, Mentch Frank D, Guo Yiran, Kim Cecilia, Xia Qianghua, Chiavacci Rosetta M, Thomas Kelly A, Qiu Haijun, Grant Struan F A, Furth Susan L, Hakonarson Hakon, Sleiman Patrick M A: GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. Human molecular genetics 22(7): 1457-64, Apr 2013.

Ganesh Santhi K, Tragante Vinicius, Guo Wei, Guo Yiran, Lanktree Matthew B, Smith Erin N, Johnson Toby, Castillo Berta Almoguera, Barnard John, Baumert Jens, Chang Yen-Pei Christy, Elbers Clara C, Farrall Martin, Fischer Mary E, Franceschini Nora, Gaunt Tom R, Gho Johannes M I H, Gieger Christian, Gong Yan, Isaacs Aaron, Kleber Marcus E, Mateo Leach Irene, McDonough Caitrin W, Meijs Matthijs F L, Mellander Olle, Molony Cliona M, Nolte Ilja M, Padmanabhan Sandosh, Price Tom S, Rajagopalan Ramakrishnan, Shaffer Jonathan, Shah Sonia, Shen Haiqing, Soranzo Nicole, van der Most Peter J, Van Iperen Erik P A, Van Setten Jessic A, Vonk Judith M, Zhang Li, Beitelshees Amber L, Berenson Gerald S, Bhatt Deepak L, Boer Jolanda M A, Boerwinkle Eric, Burkley Ben, Burt Amber, Chakravarti Aravinda, Chen Wei, Cooper-Dehoff Rhonda M, Curtis Sean P, Dreisbach Albert, Duggan David, Ehret Georg B, Fabsitz Richard R, Fornage Myriam, Fox Ervin, Furlong Clement E, Gansevoort Ron T, Hofker Marten H, Hovingh G Kees, Kirkland Susan A, Kottke-Marchant Kandice, Kutlar Abdullah, Lacroix Andrea Z, Langaee Taimour Y, Li Yun R, Lin Honghuang, Liu Kiang, Maiwald Steffi, Malik Rainer, Murugesan Gurunathan, Newton-Cheh Christopher, O'Connell Jeffery R, Onland-Moret N Charlotte, Ouwehand Willem H, Palmas Walter, Penninx Brenda W, Pepine Carl J, Pettinger Mary, Polak Joseph F, Ramachandran Vasan S, Ranchalis Jane, Redline Susan, Ridker Paul M, Rose Lynda M, Scharnag Hubert, Schork Nicholas J, Shimbo Daichi, Shuldiner Alan R, Srinivasan Sathanur R, Stolk Ronald P, Taylor Herman A, Thorand Barbara, Trip Mieke D, van Duijn Cornelia M, Verschuren W Monique, Wijmenga Cisca, Winkelmann Bernhard R, Wyatt Sharon, Young J Hunter, Boehm Bernhard O, Caulfield Mark J, Chasman Daniel I, Davidson Karina W, Doevendans Pieter A, Fitzgerald Garret A, Gums John G, Hakonarson Hakon, Hillege Hans L, Illig Thomas, Jarvik Gail P, Johnson Julie A, Kastelein John J P, Koenig Wolfgang, März Winfried, Mitchell Braxton D, Murray Sarah S, Oldehinkel Albertine J, Rader Daniel J, Reilly Muredach P, Reiner Alex P, Schadt Eric E, Silverstein Roy L, Snieder Harold, Stanton Alice V, Uitterlinden André G, van der Harst Pim, van der Schouw Yvonne T, Samani Nilesh J, Johnson Andrew D, Munroe Patricia B, de Bakker Paul I W, Zhu Xiaofeng, Levy Daniel, Keating Brendan J, Asselbergs Folkert W: Loci influencing blood pressure identified using a cardiovascular gene-centric array. Human molecular genetics 22(8): 1663-78, Apr 2013.

O'Rawe Jason, Jiang Tao, Sun Guangqing, Wu Yiyang, Wang Wei, Hu Jingchu, Bodily Paul, Tian Lifeng, Hakonarson Hakon, Johnson W Evan, Wei Zhi, Wang Kai, Lyon Gholson J: Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome medicine 5(3): 28, Mar 2013.

Holton Patrick, Ryten Mina, Nalls Michael, Trabzuni Daniah, Weale Michael E, Hernandez Dena, Crehan Helen, Gibbs J Raphael, Mayeux Richard, Haines Jonathan L, Farrer Lindsay A, Pericak-Vance Margaret A, Schellenberg Gerard D, Ramirez-Restrepo Manuel, Engel Anzhelika, Myers Amanda J, Corneveaux Jason J, Huentelman Matthew J, Dillman Allissa, Cookson Mark R, Reiman Eric M, Singleton Andrew, Hardy John, Guerreiro Rita: Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. Annals of human genetics 77(2): 85-105, Mar 2013.

Hakonarson Hakon: Ask the experts: pharmacogenomics and genome-wide association studies. Pharmacogenomics 14(4): 365-8, Mar 2013.

Glessner Joseph T, Li Jin, Hakonarson Hakon: ParseCNV integrative copy number variation association software with quality tracking. Nucleic acids research 41(5): e64, Mar 2013.

Capasso Mario, Diskin Sharon J, Totaro Francesca, Longo Luca, De Mariano Marilena, Russo Roberta, Cimmino Flora, Hakonarson Hakon, Tonini Gian Paolo, Devoto Marcella, Maris John M, Iolascon Achille: Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility. Carcinogenesis 34(3): 605-11, Mar 2013.

Ramanan V K, Risacher S L, Nho K, Kim S, Swaminathan S, Shen L, Foroud T M, Hakonarson H, Huentelman M J, Aisen P S, Petersen R C, Green R C, Jack C R, Koeppe R A, Jagust W J, Weiner M W, Saykin A J: APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. Molecular psychiatry Feb 2013.

Gelb Bruce, Brueckner Martina, Chung Wendy, Goldmuntz Elizabeth, Kaltman Jonathan, Kaski Juan Pablo, Kim Richard, Kline Jennie, Mercer-Rosa Laura, Porter George, Roberts Amy, Rosenberg Ellen, Seiden Howard, Seidman Christine, Sleeper Lynn, Tennstedt Sharon, Kaltman Jonathan, Schramm Charlene, Burns Kristin, Pearson Gail, Rosenberg Ellen: The Congenital Heart Disease Genetic Network Study: rationale, design, and early results. Circulation research 112(4): 698-706, Feb 2013.

Yang Tie-Lin, Guo Yan, Shen Hui, Li Jian, Glessner Joseph T, Qiu Chuan, Deng Fei-Yan, Tian Qing, Yu Ping, Liu Yao-Zhong, Liu Yong-Jun, Hakonarson Hakon, Grant Struan F A, Deng Hong-Wen: Copy number variation on chromosome 10q26.3 for obesity identified by a genome-wide study. The Journal of clinical endocrinology and metabolism 98(1): E191-5, Jan 2013.

Satterthwaite Theodore D, Elliott Mark A, Gerraty Raphael T, Ruparel Kosha, Loughead James, Calkins Monica E, Eickhoff Simon B, Hakonarson Hakon, Gur Ruben C, Gur Raquel E, Wolf Daniel H: An improved framework for confound regression and filtering for control of motion artifact in the preprocessing of resting-state functional connectivity data. NeuroImage 64: 240-56, Jan 2013.

Matsunami Nori, Hadley Dexter, Hensel Charles H, Christensen G Bryce, Kim Cecilia, Frackelton Edward, Thomas Kelly, da Silva Renata Pellegrino, Stevens Jeff, Baird Lisa, Otterud Brith, Ho Karen, Varvil Tena, Leppert Tami, Lambert Christophe G, Leppert Mark, Hakonarson Hakon: Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population. PloS one 8(1): e52239, Jan 2013.

Li Wei-Dong, Jiao Hongxiao, Wang Kai, Zhang Clarence K, Glessner Joseph T, Grant Struan F A, Zhao Hongyu, Hakonarson Hakon, Arlen Price R: A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls. Obesity (Silver Spring, Md.) Jan 2013.

Horikoshi Momoko, Yaghootkar Hanieh, Mook-Kanamori Dennis O, Sovio Ulla, Taal H Rob, Hennig Branwen J, Bradfield Jonathan P, St Pourcain Beate, Evans David M, Charoen Pimphen, Kaakinen Marika, Cousminer Diana L, Lehtimäki Terho, Kreiner-Møller Eskil, Warrington Nicole M, Bustamante Mariona, Feenstra Bjarke, Berry Diane J, Thiering Elisabeth, Pfab Thiemo, Barton Sheila J, Shields Beverley M, Kerkhof Marjan, van Leeuwen Elisabeth M, Fulford Anthony J, Kutalik Zoltán, Zhao Jing Hua, den Hoed Marcel, Mahajan Anubha, Lindi Virpi, Goh Liang-Kee, Hottenga Jouke-Jan, Wu Ying, Raitakari Olli T, Harder Marie N, Meirhaeghe Aline, Ntalla Ioanna, Salem Rany M, Jameson Karen A, Zhou Kaixin, Monies Dorota M, Lagou Vasiliki, Kirin Mirna, Heikkinen Jani, Adair Linda S, Alkuraya Fowzan S, Al-Odaib Ali, Amouyel Philippe, Andersson Ehm Astrid, Bennett Amanda J, Blakemore Alexandra I F, Buxton Jessica L, Dallongeville Jean, Das Shikta, de Geus Eco J C, Estivill Xavier, Flexeder Claudia, Froguel Philippe, Geller Frank, Godfrey Keith M, Gottrand Frédéric, Groves Christopher J, Hansen Torben, Hirschhorn Joel N, Hofman Albert, Hollegaard Mads V, Hougaard David M, Hyppönen Elina, Inskip Hazel M, Isaacs Aaron, Jørgensen Torben, Kanaka-Gantenbein Christina, Kemp John P, Kiess Wieland, Kilpeläinen Tuomas O, Klopp Norman, Knight Bridget A, Kuzawa Christopher W, McMahon George, Newnham John P, Niinikoski Harri, Oostra Ben A, Pedersen Louise, Postma Dirkje S, Ring Susan M, Rivadeneira Fernando, Robertson Neil R, Sebert Sylvain, Simell Olli, Slowinski Torsten, Tiesler Carla M T, Tönjes Anke, Vaag Allan, Viikari Jorma S, Vink Jacqueline M, Vissing Nadja Hawwa, Wareham Nicholas J, Willemsen Gonneke, Witte Daniel R, Zhang Haitao, Zhao Jianhua, Wilson James F, Stumvoll Michael, Prentice Andrew M, Meyer Brian F, Pearson Ewan R, Boreham Colin A G, Cooper Cyrus, Gillman Matthew W, Dedoussis George V, Moreno Luis A, Pedersen Oluf, Saarinen Maiju, Mohlke Karen L, Boomsma Dorret I, Saw Seang-Mei, Lakka Timo A, Körner Antje, Loos Ruth J F, Ong Ken K, Vollenweider Peter, van Duijn Cornelia M, Koppelman Gerard H, Hattersley Andrew T, Holloway John W, Hocher Berthold, Heinrich Joachim, Power Chris, Melbye Mads, Guxens Mònica, Pennell Craig E, Bønnelykke Klaus, Bisgaard Hans, Eriksson Johan G, Widén Elisabeth, Hakonarson Hakon, Uitterlinden André G, Pouta Anneli, Lawlor Debbie A, Smith George Davey, Frayling Timothy M, McCarthy Mark I, Grant Struan F A, Jaddoe Vincent W V, Jarvelin Marjo-Riitta, Timpson Nicholas J, Prokopenko Inga, Freathy Rachel M: New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nature genetics 45(1): 76-82, Jan 2013.

Guo Yiran, Lanktree Matthew B, Taylor Kira C, Hakonarson Hakon, Lange Leslie A, Keating Brendan J: Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals. Human molecular genetics 22(1): 184-201, Jan 2013.

Glessner Joseph T, Smith Albert Vernon, Panossian Saarene, Kim Cecilia E, Takahashi Nagahide, Thomas Kelly A, Wang Fengxiang, Seidler Kallyn, Harris Tamara B, Launer Lenore J, Keating Brendan, Connolly John, Sleiman Patrick M A, Buxbaum Joseph D, Grant Struan F A, Gudnason Vilmundur, Hakonarson Hakon: Copy number variations in alternative splicing gene networks impact lifespan. PloS one 8(1): e53846, Jan 2013.

Deliard Sandra, Panossian Saarene, Mentch Frank D, Kim Cecilia E, Hou Cuiping, Frackelton Edward C, Bradfield Jonathan P, Glessner Joseph T, Zhang Haitao, Wang Kai, Sleiman Patrick M A, Chiavacci Rosetta M, Berkowitz Robert I, Hakonarson Hakon, Zhao Jianhua, Grant Struan F A: The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry. Obesity (Silver Spring, Md.) 21(1): 159-63, Jan 2013.

Crist R C, Ambrose-Lanci L M, Vaswani M, Clarke T K, Zeng A, Yuan C, Ferraro T N, Hakonarson H, Kampman K M, Dackis C A, Pettinati H M, O'Brien C P, Oslin D W, Doyle G A, Lohoff F W, Berrettini W H: Case-control association analysis of polymorphisms in the delta-opioid receptor, OPRD1, with cocaine and opioid addicted populations. Drug and alcohol dependence 127(1-3): 122-8, Jan 2013.

Connolly John J, Glessner Joseph T, Hakonarson Hakon: A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale. Child development 84(1): 17-33, Jan-Feb 2013.

2012

Zou Fanggeng, Chai High Seng, Younkin Curtis S, Allen Mariet, Crook Julia, Pankratz V Shane, Carrasquillo Minerva M, Rowley Christopher N, Nair Asha A, Middha Sumit, Maharjan Sooraj, Nguyen Thuy, Ma Li, Malphrus Kimberly G, Palusak Ryan, Lincoln Sarah, Bisceglio Gina, Georgescu Constantin, Kouri Naomi, Kolbert Christopher P, Jen Jin, Haines Jonathan L, Mayeux Richard, Pericak-Vance Margaret A, Farrer Lindsay A, Schellenberg Gerard D, Petersen Ronald C, Graff-Radford Neill R, Dickson Dennis W, Younkin Steven G, Ertekin-Taner Nilüfer: Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. PLoS genetics 8(6): e1002707, 2012.

Whitcomb David C, LaRusch Jessica, Krasinskas Alyssa M, Klei Lambertus, Smith Jill P, Brand Randall E, Neoptolemos John P, Lerch Markus M, Tector Matt, Sandhu Bimaljit S, Guda Nalini M, Orlichenko Lidiya, Alkaade Samer, Amann Stephen T, Anderson Michelle A, Baillie John, Banks Peter A, Conwell Darwin, Coté Gregory A, Cotton Peter B, DiSario James, Farrer Lindsay A, Forsmark Chris E, Johnstone Marianne, Gardner Timothy B, Gelrud Andres, Greenhalf William, Haines Jonathan L, Hartman Douglas J, Hawes Robert A, Lawrence Christopher, Lewis Michele, Mayerle Julia, Mayeux Richard, Melhem Nadine M, Money Mary E, Muniraj Thiruvengadam, Papachristou Georgios I, Pericak-Vance Margaret A, Romagnuolo Joseph, Schellenberg Gerard D, Sherman Stuart, Simon Peter, Singh Vijay P, Slivka Adam, Stolz Donna, Sutton Robert, Weiss Frank Ulrich, Wilcox C Mel, Zarnescu Narcis Octavian, Wisniewski Stephen R, O'Connell Michael R, Kienholz Michelle L, Roeder Kathryn, Barmada M Michael, Yadav Dhiraj, Devlin Bernie: Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. Nature genetics 44(12): 1349-54, Dec 2012.

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Ikram M Arfan, Fornage Myriam, Smith Albert V, Seshadri Sudha, Schmidt Reinhold, Debette Stéphanie, Vrooman Henri A, Sigurdsson Sigurdur, Ropele Stefan, Taal H Rob, Mook-Kanamori Dennis O, Coker Laura H, Longstreth W T, Niessen Wiro J, DeStefano Anita L, Beiser Alexa, Zijdenbos Alex P, Struchalin Maksim, Jack Clifford R, Rivadeneira Fernando, Uitterlinden Andre G, Knopman David S, Hartikainen Anna-Liisa, Pennell Craig E, Thiering Elisabeth, Steegers Eric A P, Hakonarson Hakon, Heinrich Joachim, Palmer Lyle J, Jarvelin Marjo-Riitta, McCarthy Mark I, Grant Struan F A, St Pourcain Beate, Timpson Nicholas J, Smith George Davey, Sovio Ulla, Nalls Mike A, Au Rhoda, Hofman Albert, Gudnason Haukur, van der Lugt Aad, Harris Tamara B, Meeks William M, Vernooij Meike W, van Buchem Mark A, Catellier Diane, Jaddoe Vincent W V, Gudnason Vilmundur, Windham B Gwen, Wolf Philip A, van Duijn Cornelia M, Mosley Thomas H, Schmidt Helena, Launer Lenore J, Breteler Monique M B, DeCarli Charles: Common variants at 6q22 and 17q21 are associated with intracranial volume. Nature genetics 44(5): 539-44, May 2012.

Bradfield Jonathan P, Taal H Rob, Timpson Nicholas J, Scherag André, Lecoeur Cecile, Warrington Nicole M, Hypponen Elina, Holst Claus, Valcarcel Beatriz, Thiering Elisabeth, Salem Rany M, Schumacher Fredrick R, Cousminer Diana L, Sleiman Patrick M A, Zhao Jianhua, Berkowitz Robert I, Vimaleswaran Karani S, Jarick Ivonne, Pennell Craig E, Evans David M, St Pourcain Beate, Berry Diane J, Mook-Kanamori Dennis O, Hofman Albert, Rivadeneira Fernando, Uitterlinden André G, van Duijn Cornelia M, van der Valk Ralf J P, de Jongste Johan C, Postma Dirkje S, Boomsma Dorret I, Gauderman W James, Hassanein Mohamed T, Lindgren Cecilia M, Mägi Reedik, Boreham Colin A G, Neville Charlotte E, Moreno Luis A, Elliott Paul, Pouta Anneli, Hartikainen Anna-Liisa, Li Mingyao, Raitakari Olli, Lehtimäki Terho, Eriksson Johan G, Palotie Aarno, Dallongeville Jean, Das Shikta, Deloukas Panos, McMahon George, Ring Susan M, Kemp John P, Buxton Jessica L, Blakemore Alexandra I F, Bustamante Mariona, Guxens Mònica, Hirschhorn Joel N, Gillman Matthew W, Kreiner-Møller Eskil, Bisgaard Hans, Gilliland Frank D, Heinrich Joachim, Wheeler Eleanor, Barroso Inês, O'Rahilly Stephen, Meirhaeghe Aline, Sørensen Thorkild I A, Power Chris, Palmer Lyle J, Hinney Anke, Widen Elisabeth, Farooqi I Sadaf, McCarthy Mark I, Froguel Philippe, Meyre David, Hebebrand Johannes, Jarvelin Marjo-Riitta, Jaddoe Vincent W V, Smith George Davey, Hakonarson Hakon, Grant Struan F A: A genome-wide association meta-analysis identifies new childhood obesity loci. Nature genetics 44(5): 526-31, May 2012.

Latorre Valeria, Diskin Sharon J, Diamond Maura A, Zhang Haitao, Hakonarson Hakon, Maris John M, Devoto Marcella: Replication of neuroblastoma SNP association at the BARD1 locus in African-Americans. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 21(4): 658-63, Apr 2012.

Gai X, Xie H M, Perin J C, Takahashi N, Murphy K, Wenocur A S, D'arcy M, O'Hara R J, Goldmuntz E, Grice D E, Shaikh T H, Hakonarson H, Buxbaum J D, Elia J, White P S: Rare structural variation of synapse and neurotransmission genes in autism. Molecular psychiatry 17(4): 402-11, Apr 2012.

Casey Jillian P, Magalhaes Tiago, Conroy Judith M, Regan Regina, Shah Naisha, Anney Richard, Shields Denis C, Abrahams Brett S, Almeida Joana, Bacchelli Elena, Bailey Anthony J, Baird Gillian, Battaglia Agatino, Berney Tom, Bolshakova Nadia, Bolton Patrick F, Bourgeron Thomas, Brennan Sean, Cali Phil, Correia Catarina, Corsello Christina, Coutanche Marc, Dawson Geraldine, de Jonge Maretha, Delorme Richard, Duketis Eftichia, Duque Frederico, Estes Annette, Farrar Penny, Fernandez Bridget A, Folstein Susan E, Foley Suzanne, Fombonne Eric, Freitag Christine M, Gilbert John, Gillberg Christopher, Glessner Joseph T, Green Jonathan, Guter Stephen J, Hakonarson Hakon, Holt Richard, Hughes Gillian, Hus Vanessa, Igliozzi Roberta, Kim Cecilia, Klauck Sabine M, Kolevzon Alexander, Lamb Janine A, Leboyer Marion, Le Couteur Ann, Leventhal Bennett L, Lord Catherine, Lund Sabata C, Maestrini Elena, Mantoulan Carine, Marshall Christian R, McConachie Helen, McDougle Christopher J, McGrath Jane, McMahon William M, Merikangas Alison, Miller Judith, Minopoli Fiorella, Mirza Ghazala K, Munson Jeff, Nelson Stanley F, Nygren Gudrun, Oliveira Guiomar, Pagnamenta Alistair T, Papanikolaou Katerina, Parr Jeremy R, Parrini Barbara, Pickles Andrew, Pinto Dalila, Piven Joseph, Posey David J, Poustka Annemarie, Poustka Fritz, Ragoussis Jiannis, Roge Bernadette, Rutter Michael L, Sequeira Ana F, Soorya Latha, Sousa Inês, Sykes Nuala, Stoppioni Vera, Tancredi Raffaella, Tauber Maïté, Thompson Ann P, Thomson Susanne, Tsiantis John, Van Engeland Herman, Vincent John B, Volkmar Fred, Vorstman Jacob A S, Wallace Simon, Wang Kai, Wassink Thomas H, White Kathy, Wing Kirsty, Wittemeyer Kerstin, Yaspan Brian L, Zwaigenbaum Lonnie, Betancur Catalina, Buxbaum Joseph D, Cantor Rita M, Cook Edwin H, Coon Hilary, Cuccaro Michael L, Geschwind Daniel H, Haines Jonathan L, Hallmayer Joachim, Monaco Anthony P, Nurnberger John I, Pericak-Vance Margaret A, Schellenberg Gerard D, Scherer Stephen W, Sutcliffe James S, Szatmari Peter, Vieland Veronica J, Wijsman Ellen M, Green Andrew, Gill Michael, Gallagher Louise, Vicente Astrid, Ennis Sean: A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Human genetics 131(4): 565-79, Apr 2012.

Bosse Kristopher R, Diskin Sharon J, Cole Kristina A, Wood Andrew C, Schnepp Robert W, Norris Geoffrey, Nguyen Le B, Jagannathan Jayanti, Laquaglia Michael, Winter Cynthia, Diamond Maura, Hou Cuiping, Attiyeh Edward F, Mosse Yael P, Pineros Vanessa, Dizin Eva, Zhang Yongqiang, Asgharzadeh Shahab, Seeger Robert C, Capasso Mario, Pawel Bruce R, Devoto Marcella, Hakonarson Hakon, Rappaport Eric F, Irminger-Finger Irmgard, Maris John M: Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity. Cancer research 72(8): 2068-78, Apr 2012.

Saxena Richa, Elbers Clara C, Guo Yiran, Peter Inga, Gaunt Tom R, Mega Jessica L, Lanktree Matthew B, Tare Archana, Castillo Berta Almoguera, Li Yun R, Johnson Toby, Bruinenberg Marcel, Gilbert-Diamond Diane, Rajagopalan Ramakrishnan, Voight Benjamin F, Balasubramanyam Ashok, Barnard John, Bauer Florianne, Baumert Jens, Bhangale Tushar, Böhm Bernhard O, Braund Peter S, Burton Paul R, Chandrupatla Hareesh R, Clarke Robert, Cooper-DeHoff Rhonda M, Crook Errol D, Davey-Smith George, Day Ian N, de Boer Anthonius, de Groot Mark C H, Drenos Fotios, Ferguson Jane, Fox Caroline S, Furlong Clement E, Gibson Quince, Gieger Christian, Gilhuijs-Pederson Lisa A, Glessner Joseph T, Goel Anuj, Gong Yan, Grant Struan F A, Grobbee Diederick E, Hastie Claire, Humphries Steve E, Kim Cecilia E, Kivimaki Mika, Kleber Marcus, Meisinger Christa, Kumari Meena, Langaee Taimour Y, Lawlor Debbie A, Li Mingyao, Lobmeyer Maximilian T, Maitland-van der Zee Anke-Hilse, Meijs Matthijs F L, Molony Cliona M, Morrow David A, Murugesan Gurunathan, Musani Solomon K, Nelson Christopher P, Newhouse Stephen J, O'Connell Jeffery R, Padmanabhan Sandosh, Palmen Jutta, Patel Sanjey R, Pepine Carl J, Pettinger Mary, Price Thomas S, Rafelt Suzanne, Ranchalis Jane, Rasheed Asif, Rosenthal Elisabeth, Ruczinski Ingo, Shah Sonia, Shen Haiqing, Silbernagel Günther, Smith Erin N, Spijkerman Annemieke W M, Stanton Alice, Steffes Michael W, Thorand Barbara, Trip Mieke, van der Harst Pim, van der A Daphne L, van Iperen Erik P A, van Setten Jessica, van Vliet-Ostaptchouk Jana V, Verweij Niek, Wolffenbuttel Bruce H R, Young Taylor, Zafarmand M Hadi, Zmuda Joseph M, Boehnke Michael, Altshuler David, McCarthy Mark, Kao W H Linda, Pankow James S, Cappola Thomas P, Sever Peter, Poulter Neil, Caulfield Mark, Dominiczak Anna, Shields Denis C, Bhatt Deepak L, Bhatt Deepak, Zhang Li, Curtis Sean P, Danesh John, Casas Juan P, van der Schouw Yvonne T, Onland-Moret N Charlotte, Doevendans Pieter A, Dorn Gerald W, Farrall Martin, FitzGerald Garret A, Hamsten Anders, Hegele Robert, Hingorani Aroon D, Hofker Marten H, Huggins Gordon S, Illig Thomas, Jarvik Gail P, Johnson Julie A, Klungel Olaf H, Knowler William C, Koenig Wolfgang, März Winfried, Meigs James B, Melander Olle, Munroe Patricia B, Mitchell Braxton D, Bielinski Susan J, Rader Daniel J, Reilly Muredach P, Rich Stephen S, Rotter Jerome I, Saleheen Danish, Samani Nilesh J, Schadt Eric E, Shuldiner Alan R, Silverstein Roy, Kottke-Marchant Kandice, Talmud Philippa J, Watkins Hugh, Asselbergs Folkert W, Asselbergs Folkert, de Bakker Paul I W, McCaffery Jeanne, Wijmenga Cisca, Sabatine Marc S, Wilson James G, Reiner Alex, Bowden Donald W, Hakonarson Hakon, Siscovick David S, Keating Brendan J: Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. American journal of human genetics 90(3): 410-25, Mar 2012.

Satterthwaite Theodore D, Wolf Daniel H, Loughead James, Ruparel Kosha, Elliott Mark A, Hakonarson Hakon, Gur Ruben C, Gur Raquel E: Impact of in-scanner head motion on multiple measures of functional connectivity: relevance for studies of neurodevelopment in youth. NeuroImage 60(1): 623-32, Mar 2012.

Hingorani Aroon D, Casas Juan Pablo: The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet 379(9822): 1214-24, Mar 2012.

Gur Ruben C, Richard Jan, Calkins Monica E, Chiavacci Rosetta, Hansen John A, Bilker Warren B, Loughead James, Connolly John J, Qiu Haijun, Mentch Frank D, Abou-Sleiman Patrick M, Hakonarson Hakon, Gur Raquel E: Age group and sex differences in performance on a computerized neurocognitive battery in children age 8-21. Neuropsychology 26(2): 251-65, Mar 2012.

Fernandez Thomas V, Sanders Stephan J, Yurkiewicz Ilana R, Ercan-Sencicek A Gulhan, Kim Young-Shin, Fishman Daniel O, Raubeson Melanie J, Song Youeun, Yasuno Katsuhito, Ho Winson S C, Bilguvar Kaya, Glessner Joseph, Chu Su Hee, Leckman James F, King Robert A, Gilbert Donald L, Heiman Gary A, Tischfield Jay A, Hoekstra Pieter J, Devlin Bernie, Hakonarson Hakon, Mane Shrikant M, Günel Murat, State Matthew W: Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. Biological psychiatry 71(5): 392-402, Mar 2012.

Williams Nigel M, Franke Barbara, Mick Eric, Anney Richard J L, Freitag Christine M, Gill Michael, Thapar Anita, O'Donovan Michael C, Owen Michael J, Holmans Peter, Kent Lindsey, Middleton Frank, Zhang-James Yanli, Liu Lu, Meyer Jobst, Nguyen Thuy Trang, Romanos Jasmin, Romanos Marcel, Seitz Christiane, Renner Tobias J, Walitza Susanne, Warnke Andreas, Palmason Haukur, Buitelaar Jan, Rommelse Nanda, Vasquez Alejandro Arias, Hawi Ziarih, Langley Kate, Sergeant Joseph, Steinhausen Hans-Christoph, Roeyers Herbert, Biederman Joseph, Zaharieva Irina, Hakonarson Hakon, Elia Josephine, Lionel Anath C, Crosbie Jennifer, Marshall Christian R, Schachar Russell, Scherer Stephen W, Todorov Alexandre, Smalley Susan L, Loo Sandra, Nelson Stanley, Shtir Corina, Asherson Philip, Reif Andreas, Lesch Klaus-Peter, Faraone Stephen V: Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. The American journal of psychiatry 169(2): 195-204, Feb 2012.

Stergiakouli Evangelia, Hamshere Marian, Holmans Peter, Langley Kate, Zaharieva Irina, Hawi Ziarah, Kent Lindsey, Gill Michael, Williams Nigel, Owen Michael J, O'Donovan Michael, Thapar Anita: Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD. The American journal of psychiatry 169(2): 186-94, Feb 2012.

Paternoster Lavinia, Standl Marie, Chen Chih-Mei, Ramasamy Adaikalavan, Bønnelykke Klaus, Duijts Liesbeth, Ferreira Manuel A, Alves Alexessander Couto, Thyssen Jacob P, Albrecht Eva, Baurecht Hansjörg, Feenstra Bjarke, Sleiman Patrick M A, Hysi Pirro, Warrington Nicole M, Curjuric Ivan, Myhre Ronny, Curtin John A, Groen-Blokhuis Maria M, Kerkhof Marjan, Sääf Annika, Franke Andre, Ellinghaus David, Fölster-Holst Regina, Dermitzakis Emmanouil, Montgomery Stephen B, Prokisch Holger, Heim Katharina, Hartikainen Anna-Liisa, Pouta Anneli, Pekkanen Juha, Blakemore Alexandra I F, Buxton Jessica L, Kaakinen Marika, Duffy David L, Madden Pamela A, Heath Andrew C, Montgomery Grant W, Thompson Philip J, Matheson Melanie C, Le Souëf Peter, St Pourcain Beate, Smith George Davey, Henderson John, Kemp John P, Timpson Nicholas J, Deloukas Panos, Ring Susan M, Wichmann H-Erich, Müller-Nurasyid Martina, Novak Natalija, Klopp Norman, Rodríguez Elke, McArdle Wendy, Linneberg Allan, Menné Torkil, Nohr Ellen A, Hofman Albert, Uitterlinden André G, van Duijn Cornélia M, Rivadeneira Fernando, de Jongste Johan C, van der Valk Ralf J P, Wjst Matthias, Jogi Rain, Geller Frank, Boyd Heather A, Murray Jeffrey C, Kim Cecilia, Mentch Frank, March Michael, Mangino Massimo, Spector Tim D, Bataille Veronique, Pennell Craig E, Holt Patrick G, Sly Peter, Tiesler Carla M T, Thiering Elisabeth, Illig Thomas, Imboden Medea, Nystad Wenche, Simpson Angela, Hottenga Jouke-Jan, Postma Dirkje, Koppelman Gerard H, Smit Henriette A, Söderhäll Cilla, Chawes Bo, Kreiner-Møller Eskil, Bisgaard Hans, Melén Erik, Boomsma Dorret I, Custovic Adnan, Jacobsson Bo, Probst-Hensch Nicole M, Palmer Lyle J, Glass Daniel, Hakonarson Hakon, Melbye Mads, Jarvis Deborah L, Jaddoe Vincent W V, Gieger Christian, Strachan David P, Martin Nicholas G, Jarvelin Marjo-Riitta, Heinrich Joachim, Evans David M, Weidinger Stephan: Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. Nature genetics 44(2): 187-92, Feb 2012.

Francey Lauren J, Conlin Laura K, Kadesch Hanna E, Clark Dinah, Berrodin Donna, Sun Yi, Glessner Joe, Hakonarson Hakon, Jalas Chaim, Landau Chaim, Spinner Nancy B, Kenna Margaret, Sagi Michal, Rehm Heidi L, Krantz Ian D: Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. American journal of medical genetics. Part A 158A(2): 298-308, Feb 2012.

Ferguson Jane F, Hinkle Christine C, Mehta Nehal N, Bagheri Roshanak, Derohannessian Stephanie L, Shah Rhia, Mucksavage Megan I, Bradfield Jonathan P, Hakonarson Hakon, Wang Xuexia, Master Stephen R, Rader Daniel J, Li Mingyao, Reilly Muredach P: Translational studies of lipoprotein-associated phospholipase Aâ‚‚ in inflammation and atherosclerosis. Journal of the American College of Cardiology 59(8): 764-72, Feb 2012.

Hunt Karen A, Smyth Deborah J, Balschun Tobias, Ban Maria, Mistry Vanisha, Ahmad Tariq, Anand Vidya, Barrett Jeffrey C, Bhaw-Rosun Leena, Bockett Nicholas A, Brand Oliver J, Brouwer Elisabeth, Concannon Patrick, Cooper Jason D, Dias Kerith-Rae M, van Diemen Cleo C, Dubois Patrick C, Edkins Sarah, Fölster-Holst Regina, Fransen Karin, Glass David N, Heap Graham A R, Hofmann Sylvia, Huizinga Tom W J, Hunt Sarah, Langford Cordelia, Lee James, Mansfield John, Marrosu Maria Giovanna, Mathew Christopher G, Mein Charles A, Müller-Quernheim Joachim, Nutland Sarah, Onengut-Gumuscu Suna, Ouwehand Willem, Pearce Kerra, Prescott Natalie J, Posthumus Marcel D, Potter Simon, Rosati Giulio, Sambrook Jennifer, Satsangi Jack, Schreiber Stefan, Shtir Corina, Simmonds Matthew J, Sudman Marc, Thompson Susan D, Toes Rene, Trynka Gosia, Vyse Timothy J, Walker Neil M, Weidinger Stephan, Zhernakova Alexandra, Zoledziewska Magdalena, Weersma Rinse K, Gough Stephen C L, Sawcer Stephen, Wijmenga Cisca, Parkes Miles, Cucca Francesco, Franke Andre, Deloukas Panos, Rich Stephen S, Todd John A, van Heel David A: Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature genetics 44(1): 3-5, Jan 2012.

Huff Chad D, Witherspoon David J, Zhang Yuhua, Gatenbee Chandler, Denson Lee A, Kugathasan Subra, Hakonarson Hakon, Whiting April, Davis Chadwick T, Wu Wilfred, Xing Jinchuan, Watkins W Scott, Bamshad Michael J, Bradfield Jonathan P, Bulayeva Kazima, Simonson Tatum S, Jorde Lynn B, Guthery Stephen L: Crohn's disease and genetic hitchhiking at IBD5. Molecular biology and evolution 29(1): 101-11, Jan 2012.

Grant S F A, Glessner J T, Bradfield J P, Zhao J, Tirone J E, Berkowitz R I, Hakonarson H, Sondheimer N: Lack of relationship between mitochondrial heteroplasmy or variation and childhood obesity. International journal of obesity (2005) 36(1): 80-3, Jan 2012.

Elia Josephine, Glessner Joseph T, Wang Kai, Takahashi Nagahide, Shtir Corina J, Hadley Dexter, Sleiman Patrick M A, Zhang Haitao, Kim Cecilia E, Robison Reid, Lyon Gholson J, Flory James H, Bradfield Jonathan P, Imielinski Marcin, Hou Cuiping, Frackelton Edward C, Chiavacci Rosetta M, Sakurai Takeshi, Rabin Cara, Middleton Frank A, Thomas Kelly A, Garris Maria, Mentch Frank, Freitag Christine M, Steinhausen Hans-Christoph, Todorov Alexandre A, Reif Andreas, Rothenberger Aribert, Franke Barbara, Mick Eric O, Roeyers Herbert, Buitelaar Jan, Lesch Klaus-Peter, Banaschewski Tobias, Ebstein Richard P, Mulas Fernando, Oades Robert D, Sergeant Joseph, Sonuga-Barke Edmund, Renner Tobias J, Romanos Marcel, Romanos Jasmin, Warnke Andreas, Walitza Susanne, Meyer Jobst, Pálmason Haukur, Seitz Christiane, Loo Sandra K, Smalley Susan L, Biederman Joseph, Kent Lindsey, Asherson Philip, Anney Richard J L, Gaynor J William, Shaw Philip, Devoto Marcella, White Peter S, Grant Struan F A, Buxbaum Joseph D, Rapoport Judith L, Williams Nigel M, Nelson Stanley F, Faraone Stephen V, Hakonarson Hakon: Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nature genetics 44(1): 78-84, Jan 2012.

Dougherty Margaret J, Tooke Laura S, Sullivan Lisa M, Hakonarson Hakon, Wainwright Luanne M, Biegel Jaclyn A: Clinical utilization of high-resolution single nucleotide polymorphism based oligonucleotide arrays in diagnostic studies of pediatric patients with solid tumors. Cancer genetics 205(1-2): 42-54, Jan-Feb 2012.

2011

Zhao Jianhua, Bradfield Jonathan P, Zhang Haitao, Sleiman Patrick M, Kim Cecilia E, Glessner Joseph T, Deliard Sandra, Thomas Kelly A, Frackelton Edward C, Li Mingyao, Chiavacci Rosetta M, Berkowitz Robert I, Hakonarson Hakon, Grant Struan F A: Role of BMI-associated loci identified in GWAS meta-analyses in the context of common childhood obesity in European Americans. Obesity (Silver Spring, Md.) 19(12): 2436-9, Dec 2011.

Xie Hongbo M, Perin Juan C, Schurr Theodore G, Dulik Matthew C, Zhadanov Sergey I, Baur Joseph A, King Michael P, Place Emily, Clarke Colleen, Grauer Michael, Schug Jonathan, Santani Avni, Albano Anthony, Kim Cecilia, Procaccio Vincent, Hakonarson Hakon, Gai Xiaowu, Falk Marni J: Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy. BMC bioinformatics 12: 402, 2011.

Wang Kai, Li Wei-Dong, Zhang Clarence K, Wang Zuoheng, Glessner Joseph T, Grant Struan F A, Zhao Hongyu, Hakonarson Hakon, Price R Arlen: A genome-wide association study on obesity and obesity-related traits. PloS one 6(4): e18939, 2011.

Wang Kai, Edmondson Andrew C, Li Mingyao, Gao Fan, Qasim Atif N, Devaney Joseph M, Burnett Mary Susan, Waterworth Dawn M, Mooser Vincent, Grant Struan F A, Epstein Stephen E, Reilly Muredach P, Hakonarson Hakon, Rader Daniel J: Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation. Frontiers in genetics 2: 41, 2011.

Rossin Elizabeth J, Lage Kasper, Raychaudhuri Soumya, Xavier Ramnik J, Tatar Diana, Benita Yair, Cotsapas Chris, Daly Mark J: Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology. PLoS genetics 7(1): e1001273, 2011.

O'Donnell Christopher J, Kavousi Maryam, Smith Albert V, Kardia Sharon L R, Feitosa Mary F, Hwang Shih-Jen, Sun Yan V, Province Michael A, Aspelund Thor, Dehghan Abbas, Hoffmann Udo, Bielak Lawrence F, Zhang Qunyuan, Eiriksdottir Gudny, van Duijn Cornelia M, Fox Caroline S, de Andrade Mariza, Kraja Aldi T, Sigurdsson Sigurdur, Elias-Smale Suzette E, Murabito Joanne M, Launer Lenore J, van der Lugt Aad, Kathiresan Sekar, Krestin Gabriel P, Herrington David M, Howard Timothy D, Liu Yongmei, Post Wendy, Mitchell Braxton D, O'Connell Jeffrey R, Shen Haiqing, Shuldiner Alan R, Altshuler David, Elosua Roberto, Salomaa Veikko, Schwartz Stephen M, Siscovick David S, Voight Benjamin F, Bis Joshua C, Glazer Nicole L, Psaty Bruce M, Boerwinkle Eric, Heiss Gerardo, Blankenberg Stefan, Zeller Tanja, Wild Philipp S, Schnabel Renate B, Schillert Arne, Ziegler Andreas, Münzel Thomas F, White Charles C, Rotter Jerome I, Nalls Michael, Oudkerk Matthijs, Johnson Andrew D, Newman Anne B, Uitterlinden Andre G, Massaro Joseph M, Cunningham Julie, Harris Tamara B, Hofman Albert, Peyser Patricia A, Borecki Ingrid B, Cupples L Adrienne, Gudnason Vilmundur, Witteman Jacqueline C M: Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. Circulation 124(25): 2855-64, Dec 2011.

Lucas Gavin, Lluís-Ganella Carla, Subirana Isaac, Sentí Mariano, Willenborg Christina, Musameh Muntaser D, Schwartz Stephen M, O'Donnell Christopher J, Melander Olle, Salomaa Veikko, Elosua Roberto: Post-genomic update on a classical candidate gene for coronary artery disease: ESR1. Circulation. Cardiovascular genetics 4(6): 647-54, Dec 2011.

Hinney Anke, Scherag André, Jarick Ivonne, Albayrak Özgür, Pütter Carolin, Pechlivanis Sonali, Dauvermann Maria R, Beck Sebastian, Weber Heike, Scherag Susann, Nguyen Trang T, Volckmar Anna-Lena, Knoll Nadja, Faraone Stephen V, Neale Benjamin M, Franke Barbara, Cichon Sven, Hoffmann Per, Nöthen Markus M, Schreiber Stefan, Jöckel Karl-Heinz, Wichmann H-Erich, Freitag Christine, Lempp Thomas, Meyer Jobst, Gilsbach Susanne, Herpertz-Dahlmann Beate, Sinzig Judith, Lehmkuhl Gerd, Renner Tobias J, Warnke Andreas, Romanos Marcel, Lesch Klaus-Peter, Reif Andreas, Schimmelmann Benno G, Hebebrand Johannes: Genome-wide association study in German patients with attention deficit/hyperactivity disorder. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 156B(8): 888-97, Dec 2011.

Herder Christian, Peeters Wouter, Illig Thomas, Baumert Jens, de Kleijn Dominique P V, Moll Frans L, Poschen Ulrike, Klopp Norman, Müller-Nurasyid Martina, Roden Michael, Preuss Michael, Karakas Mahir, Meisinger Christa, Thorand Barbara, Pasterkamp Gerard, Koenig Wolfgang, Assimes Themistocles L, Deloukas Panos, Erdmann Jeanette, Holm Hilma, Kathiresan Sekar, König Inke R, McPherson Ruth, Reilly Muredach P, Roberts Robert, Samani Nilesh J, Schunkert Heribert, Stewart Alexandre F R: RANTES/CCL5 and risk for coronary events: results from the MONICA/KORA Augsburg case-cohort, Athero-Express and CARDIoGRAM studies. PloS one 6(12): e25734, 2011.

Hakonarson Hakon, Grant Struan F A: Planning a genome-wide association study: points to consider. Annals of medicine 43(6): 451-60, 2011.

Devoto Marcella, Specchia Claudia, Laudenslager Marci, Longo Luca, Hakonarson Hakon, Maris John, Mossé Yael: Genome-wide linkage analysis to identify genetic modifiers of ALK mutation penetrance in familial neuroblastoma. Human heredity 71(2): 135-9, 2011.

Chung Ren-Hua, Ma Deqiong, Wang Kai, Hedges Dale J, Jaworski James M, Gilbert John R, Cuccaro Michael L, Wright Harry H, Abramson Ruth K, Konidari Ioanna, Whitehead Patrice L, Schellenberg Gerard D, Hakonarson Hakon, Haines Jonathan L, Pericak-Vance Margaret A, Martin Eden R: An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males. Molecular autism 2(1): 18, 2011.

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Rope Alan F, Wang Kai, Evjenth Rune, Xing Jinchuan, Johnston Jennifer J, Swensen Jeffrey J, Johnson W Evan, Moore Barry, Huff Chad D, Bird Lynne M, Carey John C, Opitz John M, Stevens Cathy A, Jiang Tao, Schank Christa, Fain Heidi Deborah, Robison Reid, Dalley Brian, Chin Steven, South Sarah T, Pysher Theodore J, Jorde Lynn B, Hakonarson Hakon, Lillehaug Johan R, Biesecker Leslie G, Yandell Mark, Arnesen Thomas, Lyon Gholson J: Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. American journal of human genetics 89(1): 28-43, Jul 2011.

Lyon Gholson J, Jiang Tao, Van Wijk Richard, Wang Wei, Bodily Paul Mark, Xing Jinchuan, Tian Lifeng, Robison Reid J, Clement Mark, Lin Yang, Zhang Peng, Liu Ying, Moore Barry, Glessner Joseph T, Elia Josephine, Reimherr Fred, van Solinge Wouter W, Yandell Mark, Hakonarson Hakon, Wang Jun, Johnson William Evan, Wei Zhi, Wang Kai: Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications. Discovery medicine 12(62): 41-55, Jul 2011.

Höglinger Günter U, Melhem Nadine M, Dickson Dennis W, Sleiman Patrick M A, Wang Li-San, Klei Lambertus, Rademakers Rosa, de Silva Rohan, Litvan Irene, Riley David E, van Swieten John C, Heutink Peter, Wszolek Zbigniew K, Uitti Ryan J, Vandrovcova Jana, Hurtig Howard I, Gross Rachel G, Maetzler Walter, Goldwurm Stefano, Tolosa Eduardo, Borroni Barbara, Pastor Pau, Cantwell Laura B, Han Mi Ryung, Dillman Allissa, van der Brug Marcel P, Gibbs J Raphael, Cookson Mark R, Hernandez Dena G, Singleton Andrew B, Farrer Matthew J, Yu Chang-En, Golbe Lawrence I, Revesz Tamas, Hardy John, Lees Andrew J, Devlin Bernie, Hakonarson Hakon, Müller Ulrich, Schellenberg Gerard D: Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nature genetics 43(7): 699-705, Jul 2011.

Zhao Jianhua, Bradfield Jonathan P, Li Mingyao, Zhang Haitao, Mentch Frank D, Wang Kai, Sleiman Patrick M A, Kim Cecilia E, Glessner Joseph T, Frackelton Edward C, Chiavacci Rosetta M, Berkowitz Robert I, Zemel Babette S, Hakonarson Hakon, Grant Struan F A: BMD-associated variation at the Osterix locus is correlated with childhood obesity in females. Obesity (Silver Spring, Md.) 19(6): 1311-4, Jun 2011.

Orange Jordan S, Glessner Joseph T, Resnick Elena, Sullivan Kathleen E, Lucas Mary, Ferry Berne, Kim Cecilia E, Hou Cuiping, Wang Fengxiang, Chiavacci Rosetta, Kugathasan Subra, Sleasman John W, Baldassano Robert, Perez Elena E, Chapel Helen, Cunningham-Rundles Charlotte, Hakonarson Hakon: Genome-wide association identifies diverse causes of common variable immunodeficiency. The Journal of allergy and clinical immunology 127(6): 1360-7.e6, Jun 2011.

Hakonarson Hakon, Grant Struan F A: GWAS and its impact on elucidating the etiology of diabetes. Diabetes/metabolism research and reviews Jun 2011.

Roshan Usman, Chikkagoudar Satish, Wei Zhi, Wang Kai, Hakonarson Hakon: Ranking causal variants and associated regions in genome-wide association studies by the support vector machine and random forest. Nucleic acids research 39(9): e62, May 2011.

Ramon H E, Riling C R, Bradfield J, Yang B, Hakonarson H, Oliver P M: The ubiquitin ligase adaptor Ndfip1 regulates T cell-mediated gastrointestinal inflammation and inflammatory bowel disease susceptibility. Mucosal immunology 4(3): 314-24, May 2011.

Naj Adam C, Jun Gyungah, Beecham Gary W, Wang Li-San, Vardarajan Badri Narayan, Buros Jacqueline, Gallins Paul J, Buxbaum Joseph D, Jarvik Gail P, Crane Paul K, Larson Eric B, Bird Thomas D, Boeve Bradley F, Graff-Radford Neill R, De Jager Philip L, Evans Denis, Schneider Julie A, Carrasquillo Minerva M, Ertekin-Taner Nilufer, Younkin Steven G, Cruchaga Carlos, Kauwe John S K, Nowotny Petra, Kramer Patricia, Hardy John, Huentelman Matthew J, Myers Amanda J, Barmada Michael M, Demirci F Yesim, Baldwin Clinton T, Green Robert C, Rogaeva Ekaterina, St George-Hyslop Peter, Arnold Steven E, Barber Robert, Beach Thomas, Bigio Eileen H, Bowen James D, Boxer Adam, Burke James R, Cairns Nigel J, Carlson Chris S, Carney Regina M, Carroll Steven L, Chui Helena C, Clark David G, Corneveaux Jason, Cotman Carl W, Cummings Jeffrey L, DeCarli Charles, DeKosky Steven T, Diaz-Arrastia Ramon, Dick Malcolm, Dickson Dennis W, Ellis William G, Faber Kelley M, Fallon Kenneth B, Farlow Martin R, Ferris Steven, Frosch Matthew P, Galasko Douglas R, Ganguli Mary, Gearing Marla, Geschwind Daniel H, Ghetti Bernardino, Gilbert John R, Gilman Sid, Giordani Bruno, Glass Jonathan D, Growdon John H, Hamilton Ronald L, Harrell Lindy E, Head Elizabeth, Honig Lawrence S, Hulette Christine M, Hyman Bradley T, Jicha Gregory A, Jin Lee-Way, Johnson Nancy, Karlawish Jason, Karydas Anna, Kaye Jeffrey A, Kim Ronald, Koo Edward H, Kowall Neil W, Lah James J, Levey Allan I, Lieberman Andrew P, Lopez Oscar L, Mack Wendy J, Marson Daniel C, Martiniuk Frank, Mash Deborah C, Masliah Eliezer, McCormick Wayne C, McCurry Susan M, McDavid Andrew N, McKee Ann C, Mesulam Marsel, Miller Bruce L, Miller Carol A, Miller Joshua W, Parisi Joseph E, Perl Daniel P, Peskind Elaine, Petersen Ronald C, Poon Wayne W, Quinn Joseph F, Rajbhandary Ruchita A, Raskind Murray, Reisberg Barry, Ringman John M, Roberson Erik D, Rosenberg Roger N, Sano Mary, Schneider Lon S, Seeley William, Shelanski Michael L, Slifer Michael A, Smith Charles D, Sonnen Joshua A, Spina Salvatore, Stern Robert A, Tanzi Rudolph E, Trojanowski John Q, Troncoso Juan C, Van Deerlin Vivianna M, Vinters Harry V, Vonsattel Jean Paul, Weintraub Sandra, Welsh-Bohmer Kathleen A, Williamson Jennifer, Woltjer Randall L, Cantwell Laura B, Dombroski Beth A, Beekly Duane, Lunetta Kathryn L, Martin Eden R, Kamboh M Ilyas, Saykin Andrew J, Reiman Eric M, Bennett David A, Morris John C, Montine Thomas J, Goate Alison M, Blacker Deborah, Tsuang Debby W, Hakonarson Hakon, Kukull Walter A, Foroud Tatiana M, Haines Jonathan L, Mayeux Richard, Pericak-Vance Margaret A, Farrer Lindsay A, Schellenberg Gerard D: Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature genetics 43(5): 436-41, May 2011.

Meyer Nuala J, Li Mingyao, Feng Rui, Bradfield Jonathan, Gallop Robert, Bellamy Scarlett, Fuchs Barry D, Lanken Paul N, Albelda Steven M, Rushefski Melanie, Aplenc Richard, Abramova Helen, Atochina-Vasserman Elena N, Beers Michael F, Calfee Carolyn S, Cohen Mitchell J, Pittet Jean-Francois, Christiani David C, O'Keefe Grant E, Ware Lorraine B, May Addison K, Wurfel Mark M, Hakonarson Hakon, Christie Jason D: ANGPT2 genetic variant is associated with trauma-associated acute lung injury and altered plasma angiopoietin-2 isoform ratio. American journal of respiratory and critical care medicine 183(10): 1344-53, May 2011.

Sondheimer Neal, Glatz Catherine E, Tirone Jack E, Deardorff Matthew A, Krieger Abba M, Hakonarson Hakon: Neutral mitochondrial heteroplasmy and the influence of aging. Human molecular genetics 20(8): 1653-9, Apr 2011.

Sharma Swarkar, Gao Xiaochong, Londono Douglas, Devroy Shonn E, Mauldin Kristen N, Frankel Jessica T, Brandon January M, Zhang Dongping, Li Quan-Zhen, Dobbs Matthew B, Gurnett Christina A, Grant Struan F A, Hakonarson Hakon, Dormans John P, Herring John A, Gordon Derek, Wise Carol A: Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes. Human molecular genetics 20(7): 1456-66, Apr 2011.

Mehta Nehal N, Li Mingyao, William Dilusha, Khera Amit V, DerOhannessian Stephanie, Qu Liming, Ferguson Jane F, McLaughlin Catherine, Shaikh Lalarukh Haris, Shah Rhia, Patel Parth N, Bradfield Jonathan P, He Jing, Stylianou Ioannis M, Hakonarson Hakon, Rader Daniel J, Reilly Muredach P: The novel atherosclerosis locus at 10q11 regulates plasma CXCL12 levels. European heart journal 32(8): 963-71, Apr 2011.

Kilpeläinen Tuomas O, den Hoed Marcel, Ong Ken K, Grøntved Anders, Brage Soren, Jameson Karen, Cooper Cyrus, Khaw Kay-Tee, Ekelund Ulf, Wareham Nicholas J, Loos Ruth J F: Obesity-susceptibility loci have a limited influence on birth weight: a meta-analysis of up to 28,219 individuals. The American journal of clinical nutrition 93(4): 851-60, Apr 2011.

Glessner Joseph T, Hakonarson Hakon: Genome-wide association: from confounded to confident. The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry 17(2): 174-84, Apr 2011.

Nguyen Le B, Diskin Sharon J, Capasso Mario, Wang Kai, Diamond Maura A, Glessner Joseph, Kim Cecilia, Attiyeh Edward F, Mosse Yael P, Cole Kristina, Iolascon Achille, Devoto Marcella, Hakonarson Hakon, Li Hongzhe K, Maris John M: Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci. PLoS genetics 7(3): e1002026, Mar 2011.

Levinson Douglas F, Duan Jubao, Oh Sang, Wang Kai, Sanders Alan R, Shi Jianxin, Zhang Nancy, Mowry Bryan J, Olincy Ann, Amin Farooq, Cloninger C Robert, Silverman Jeremy M, Buccola Nancy G, Byerley William F, Black Donald W, Kendler Kenneth S, Freedman Robert, Dudbridge Frank, Pe'er Itsik, Hakonarson Hakon, Bergen Sarah E, Fanous Ayman H, Holmans Peter A, Gejman Pablo V: Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. The American journal of psychiatry 168(3): 302-16, Mar 2011.

Levinson Douglas F, Duan Jubao, Oh Sang, Wang Kai, Sanders Alan R, Shi Jianxin, Zhang Nancy, Mowry Bryan J, Olincy Ann, Amin Farooq, Cloninger C Robert, Silverman Jeremy M, Buccola Nancy G, Byerley William F, Black Donald W, Kendler Kenneth S, Freedman Robert, Dudbridge Frank, Pe'er Itsik, Hakonarson Hakon, Bergen Sarah E, Fanous Ayman H, Holmans Peter A, Gejman Pablo V: Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. The American journal of psychiatry 168(3): 302-16, Mar 2011.

Anderson Carl A, Boucher Gabrielle, Lees Charlie W, Franke Andre, D'Amato Mauro, Taylor Kent D, Lee James C, Goyette Philippe, Imielinski Marcin, Latiano Anna, Lagacé Caroline, Scott Regan, Amininejad Leila, Bumpstead Suzannah, Baidoo Leonard, Baldassano Robert N, Barclay Murray, Bayless Theodore M, Brand Stephan, Büning Carsten, Colombel Jean-Frédéric, Denson Lee A, De Vos Martine, Dubinsky Marla, Edwards Cathryn, Ellinghaus David, Fehrmann Rudolf S N, Floyd James A B, Florin Timothy, Franchimont Denis, Franke Lude, Georges Michel, Glas Jürgen, Glazer Nicole L, Guthery Stephen L, Haritunians Talin, Hayward Nicholas K, Hugot Jean-Pierre, Jobin Gilles, Laukens Debby, Lawrance Ian, Lémann Marc, Levine Arie, Libioulle Cecile, Louis Edouard, McGovern Dermot P, Milla Monica, Montgomery Grant W, Morley Katherine I, Mowat Craig, Ng Aylwin, Newman William, Ophoff Roel A, Papi Laura, Palmieri Orazio, Peyrin-Biroulet Laurent, Panés Julián, Phillips Anne, Prescott Natalie J, Proctor Deborah D, Roberts Rebecca, Russell Richard, Rutgeerts Paul, Sanderson Jeremy, Sans Miquel, Schumm Philip, Seibold Frank, Sharma Yashoda, Simms Lisa A, Seielstad Mark, Steinhart A Hillary, Targan Stephan R, van den Berg Leonard H, Vatn Morten, Verspaget Hein, Walters Thomas, Wijmenga Cisca, Wilson David C, Westra Harm-Jan, Xavier Ramnik J, Zhao Zhen Z, Ponsioen Cyriel Y, Andersen Vibeke, Torkvist Leif, Gazouli Maria, Anagnou Nicholas P, Karlsen Tom H, Kupcinskas Limas, Sventoraityte Jurgita, Mansfield John C, Kugathasan Subra, Silverberg Mark S, Halfvarson Jonas, Rotter Jerome I, Mathew Christopher G, Griffiths Anne M, Gearry Richard, Ahmad Tariq, Brant Steven R, Chamaillard Mathias, Satsangi Jack, Cho Judy H, Schreiber Stefan, Daly Mark J, Barrett Jeffrey C, Parkes Miles, Annese Vito, Hakonarson Hakon, Radford-Smith Graham, Duerr Richard H, Vermeire Séverine, Weersma Rinse K, Rioux John D: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nature genetics 43(3): 246-52, Mar 2011.

Cappola Thomas P, Matkovich Scot J, Wang Wei, van Booven Derek, Li Mingyao, Wang Xuexia, Qu Liming, Sweitzer Nancy K, Fang James C, Reilly Muredach P, Hakonarson Hakon, Nerbonne Jeanne M, Dorn Gerald W: Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation. Proceedings of the National Academy of Sciences of the United States of America 108(6): 2456-61, Feb 2011.

Wang Kai, Diskin Sharon J, Zhang Haitao, Attiyeh Edward F, Winter Cynthia, Hou Cuiping, Schnepp Robert W, Diamond Maura, Bosse Kristopher, Mayes Patrick A, Glessner Joseph, Kim Cecilia, Frackelton Edward, Garris Maria, Wang Qun, Glaberson Wendy, Chiavacci Rosetta, Nguyen Le, Jagannathan Jayanti, Saeki Norihisa, Sasaki Hiroki, Grant Struan F A, Iolascon Achille, Mosse Yael P, Cole Kristina A, Li Hongzhe, Devoto Marcella, McGrady Patrick W, London Wendy B, Capasso Mario, Rahman Nazneen, Hakonarson Hakon, Maris John M: Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature 469(7329): 216-20, Jan 2011.

Reilly Muredach P, Li Mingyao, He Jing, Ferguson Jane F, Stylianou Ioannis M, Mehta Nehal N, Burnett Mary Susan, Devaney Joseph M, Knouff Christopher W, Thompson John R, Horne Benjamin D, Stewart Alexandre F R, Assimes Themistocles L, Wild Philipp S, Allayee Hooman, Nitschke Patrick Linsel, Patel Riyaz S, Martinelli Nicola, Girelli Domenico, Quyyumi Arshed A, Anderson Jeffrey L, Erdmann Jeanette, Hall Alistair S, Schunkert Heribert, Quertermous Thomas, Blankenberg Stefan, Hazen Stanley L, Roberts Robert, Kathiresan Sekar, Samani Nilesh J, Epstein Stephen E, Rader Daniel J: Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. Lancet 377(9763): 383-92, Jan 2011.

Ningappa Mylarappa, Higgs Brandon W, Weeks Daniel E, Ashokkumar Chethan, Duerr Richard H, Sun Qing, Soltys Kyle A, Bond Geoffrey J, Abu-Elmagd Kareem, Mazariegos George V, Alissa Feras, Rivera Marcus, Rudolph Jeffrey, Squires Robert, Hakonarson Hakon, Sindhi Rakesh: NOD2 gene polymorphism rs2066844 associates with need for combined liver-intestine transplantation in children with short-gut syndrome. The American journal of gastroenterology 106(1): 157-65, Jan 2011.

March Michael E, Sleiman Patrick M A, Hakonarson Hakon: The genetics of asthma and allergic disorders. Discovery medicine 11(56): 35-45, Jan 2011.

Lanktree Matthew B, Guo Yiran, Murtaza Muhammed, Glessner Joseph T, Bailey Swneke D, Onland-Moret N Charlotte, Lettre Guillaume, Ongen Halit, Rajagopalan Ramakrishnan, Johnson Toby, Shen Haiqing, Nelson Christopher P, Klopp Norman, Baumert Jens, Padmanabhan Sandosh, Pankratz Nathan, Pankow James S, Shah Sonia, Taylor Kira, Barnard John, Peters Bas J, Maloney Cliona M, Lobmeyer Maximilian T, Stanton Alice, Zafarmand M Hadi, Romaine Simon P R, Mehta Amar, van Iperen Erik P A, Gong Yan, Price Tom S, Smith Erin N, Kim Cecilia E, Li Yun R, Asselbergs Folkert W, Atwood Larry D, Bailey Kristian M, Bhatt Deepak, Bauer Florianne, Behr Elijah R, Bhangale Tushar, Boer Jolanda M A, Boehm Bernhard O, Bradfield Jonathan P, Brown Morris, Braund Peter S, Burton Paul R, Carty Cara, Chandrupatla Hareesh R, Chen Wei, Connell John, Dalgeorgou Chrysoula, Boer Anthonius de, Drenos Fotios, Elbers Clara C, Fang James C, Fox Caroline S, Frackelton Edward C, Fuchs Barry, Furlong Clement E, Gibson Quince, Gieger Christian, Goel Anuj, Grobbee Diederik E, Hastie Claire, Howard Philip J, Huang Guan-Hua, Johnson W Craig, Li Qing, Kleber Marcus E, Klein Barbara E K, Klein Ronald, Kooperberg Charles, Ky Bonnie, Lacroix Andrea, Lanken Paul, Lathrop Mark, Li Mingyao, Marshall Vanessa, Melander Olle, Mentch Frank D, Meyer Nuala J, Monda Keri L, Montpetit Alexandre, Murugesan Gurunathan, Nakayama Karen, Nondahl Dave, Onipinla Abiodun, Rafelt Suzanne, Newhouse Stephen J, Otieno F George, Patel Sanjey R, Putt Mary E, Rodriguez Santiago, Safa Radwan N, Sawyer Douglas B, Schreiner Pamela J, Simpson Claire, Sivapalaratnam Suthesh, Srinivasan Sathanur R, Suver Christine, Swergold Gary, Sweitzer Nancy K, Thomas Kelly A, Thorand Barbara, Timpson Nicholas J, Tischfield Sam, Tobin Martin, Tomaszewski Maciej, Tomaszweski Maciej, Verschuren W M Monique, Wallace Chris, Winkelmann Bernhard, Zhang Haitao, Zheng Dongling, Zhang Li, Zmuda Joseph M, Clarke Robert, Balmforth Anthony J, Danesh John, Day Ian N, Schork Nicholas J, de Bakker Paul I W, Delles Christian, Duggan David, Hingorani Aroon D, Hirschhorn Joel N, Hofker Marten H, Humphries Steve E, Kivimaki Mika, Lawlor Debbie A, Kottke-Marchant Kandice, Mega Jessica L, Mitchell Braxton D, Morrow David A, Palmen Jutta, Redline Susan, Shields Denis C, Shuldiner Alan R, Sleiman Patrick M, Smith George Davey, Farrall Martin, Jamshidi Yalda, Christiani David C, Casas Juan P, Hall Alistair S, Doevendans Pieter A, Christie Jason D, Berenson Gerald S, Murray Sarah S, Illig Thomas, Dorn Gerald W, Cappola Thomas P, Boerwinkle Eric, Sever Peter, Rader Daniel J, Reilly Muredach P, Caulfield Mark, Talmud Philippa J, Topol Eric, Engert James C, Wang Kai, Dominiczak Anna, Hamsten Anders, Curtis Sean P, Silverstein Roy L, Lange Leslie A, Sabatine Marc S, Trip Mieke, Saleheen Danish, Peden John F, Cruickshanks Karen J, März Winfried, O'Connell Jeffrey R, Klungel Olaf H, Wijmenga Cisca, Maitland-van der Zee Anke Hilse, Schadt Eric E, Johnson Julie A, Jarvik Gail P, Papanicolaou George J, Grant Struan F A, Munroe Patricia B, North Kari E, Samani Nilesh J, Koenig Wolfgang, Gaunt Tom R, Anand Sonia S, van der Schouw Yvonne T, Soranzo Nicole, Fitzgerald Garret A, Reiner Alex, Hegele Robert A, Hakonarson Hakon, Keating Brendan J: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. American journal of human genetics 88(1): 6-18, Jan 2011.

Elia Josephine, Gai Xaiowu, Hakonarson Hakon, White Peter S: Structural variations in attention-deficit hyperactivity disorder. Lancet 377(9763): 377-8; author reply 378, Jan 2011.

Dougherty Margaret J, Wilmoth Donna M, Tooke Laura S, Shaikh Tamim H, Gai Xiaowu, Hakonarson Hakon, Biegel Jaclyn A: Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies. Cancer genetics 204(1): 26-38, Jan 2011.

Conlin Laura K, Kramer Whitney, Hutchinson Anne L, Li Xia, Riethman Harold, Hakonarson Hakon, Mulley John C, Scheffer Ingrid E, Berkovic Samuel F, Hosain Syed A, Spinner Nancy B: Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. Journal of medical genetics 48(1): 1-9, Jan 2011.

2010

Zhao Jianhua, Li Mingyao, Bradfield Jonathan P, Zhang Haitao, Mentch Frank D, Wang Kai, Sleiman Patrick M, Kim Cecilia E, Glessner Joseph T, Hou Cuiping, Keating Brendan J, Thomas Kelly A, Garris Maria L, Deliard Sandra, Frackelton Edward C, Otieno F George, Chiavacci Rosetta M, Berkowitz Robert I, Hakonarson Hakon, Grant Struan F A: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. BMC medical genetics 11: 96, 2010.

Wong Sunny H, Gochhait Sailesh, Malhotra Dheeraj, Pettersson Fredrik H, Teo Yik Y, Khor Chiea C, Rautanen Anna, Chapman Stephen J, Mills Tara C, Srivastava Amit, Rudko Aleksey, Freidin Maxim B, Puzyrev Valery P, Ali Shafat, Aggarwal Shweta, Chopra Rupali, Reddy Belum S N, Garg Vijay K, Roy Suchismita, Meisner Sarah, Hazra Sunil K, Saha Bibhuti, Floyd Sian, Keating Brendan J, Kim Cecilia, Fairfax Benjamin P, Knight Julian C, Hill Philip C, Adegbola Richard A, Hakonarson Hakon, Fine Paul E M, Pitchappan Ramasamy M, Bamezai Rameshwar N K, Hill Adrian V S, Vannberg Fredrik O: Leprosy and the adaptation of human toll-like receptor 1. PLoS pathogens 6: e1000979, 2010.

Wang Li-San, Hranilovic Dubravka, Wang Kai, Lindquist Ingrid E, Yurcaba Lindsay, Petkovic Zorana-Bujas, Gidaya Nicole, Jernej Branimir, Hakonarson Hakon, Bucan Maja: Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia. BMC medical genetics 11: 134, 2010.

Wang Kai, Li Mingyao, Hakonarson Hakon: Analysing biological pathways in genome-wide association studies. Nature reviews. Genetics 11(12): 843-54, Dec 2010.

Takeda Toshinobu, Stotesbery Kory, Power Thomas, Ambrosini Paul J, Berrettini Wade, Hakonarson Hakon, Elia Josephine: Parental ADHD status and its association with proband ADHD subtype and severity. The Journal of pediatrics 157(6): 995-1000.e1, Dec 2010.

Stevens Kristen N, Hakonarson Hakon, Kim Cecilia E, Doevendans Pieter A, Koeleman Bobby P C, Mital Seema, Raue Jennifer, Glessner Joseph T, Coles John G, Moreno Victor, Granger Anne, Gruber Stephen B, Gruber Peter J: Common variation in ISL1 confers genetic susceptibility for human congenital heart disease. PloS one 5(5): e10855, 2010.

Soranzo Nicole, Sanna Serena, Wheeler Eleanor, Gieger Christian, Radke Dörte, Dupuis Josée, Bouatia-Naji Nabila, Langenberg Claudia, Prokopenko Inga, Stolerman Elliot, Sandhu Manjinder S, Heeney Matthew M, Devaney Joseph M, Reilly Muredach P, Ricketts Sally L, Stewart Alexandre F R, Voight Benjamin F, Willenborg Christina, Wright Benjamin, Altshuler David, Arking Dan, Balkau Beverley, Barnes Daniel, Boerwinkle Eric, Böhm Bernhard, Bonnefond Amélie, Bonnycastle Lori L, Boomsma Dorret I, Bornstein Stefan R, Böttcher Yvonne, Bumpstead Suzannah, Burnett-Miller Mary Susan, Campbell Harry, Cao Antonio, Chambers John, Clark Robert, Collins Francis S, Coresh Josef, de Geus Eco J C, Dei Mariano, Deloukas Panos, Döring Angela, Egan Josephine M, Elosua Roberto, Ferrucci Luigi, Forouhi Nita, Fox Caroline S, Franklin Christopher, Franzosi Maria Grazia, Gallina Sophie, Goel Anuj, Graessler Jürgen, Grallert Harald, Greinacher Andreas, Hadley David, Hall Alistair, Hamsten Anders, Hayward Caroline, Heath Simon, Herder Christian, Homuth Georg, Hottenga Jouke-Jan, Hunter-Merrill Rachel, Illig Thomas, Jackson Anne U, Jula Antti, Kleber Marcus, Knouff Christopher W, Kong Augustine, Kooner Jaspal, Köttgen Anna, Kovacs Peter, Krohn Knut, Kühnel Brigitte, Kuusisto Johanna, Laakso Markku, Lathrop Mark, Lecoeur Cécile, Li Man, Li Mingyao, Loos Ruth J F, Luan Jian'an, Lyssenko Valeriya, Mägi Reedik, Magnusson Patrik K E, Mälarstig Anders, Mangino Massimo, Martínez-Larrad María Teresa, März Winfried, McArdle Wendy L, McPherson Ruth, Meisinger Christa, Meitinger Thomas, Melander Olle, Mohlke Karen L, Mooser Vincent E, Morken Mario A, Narisu Narisu, Nathan David M, Nauck Matthias, O'Donnell Chris, Oexle Konrad, Olla Nazario, Pankow James S, Payne Felicity, Peden John F, Pedersen Nancy L, Peltonen Leena, Perola Markus, Polasek Ozren, Porcu Eleonora, Rader Daniel J, Rathmann Wolfgang, Ripatti Samuli, Rocheleau Ghislain, Roden Michael, Rudan Igor, Salomaa Veikko, Saxena Richa, Schlessinger David, Schunkert Heribert, Schwarz Peter, Seedorf Udo, Selvin Elizabeth, Serrano-Ríos Manuel, Shrader Peter, Silveira Angela, Siscovick David, Song Kjioung, Spector Timothy D, Stefansson Kari, Steinthorsdottir Valgerdur, Strachan David P, Strawbridge Rona, Stumvoll Michael, Surakka Ida, Swift Amy J, Tanaka Toshiko, Teumer Alexander, Thorleifsson Gudmar, Thorsteinsdottir Unnur, Tönjes Anke, Usala Gianluca, Vitart Veronique, Völzke Henry, Wallaschofski Henri, Waterworth Dawn M, Watkins Hugh, Wichmann H-Erich, Wild Sarah H, Willemsen Gonneke, Williams Gordon H, Wilson James F, Winkelmann Juliane, Wright Alan F, Zabena Carina, Zhao Jing Hua, Epstein Stephen E, Erdmann Jeanette, Hakonarson Hakon H, Kathiresan Sekar, Khaw Kay-Tee, Roberts Robert, Samani Nilesh J, Fleming Mark D, Sladek Robert, Abecasis Gonçalo, Boehnke Michael, Froguel Philippe, Groop Leif, McCarthy Mark I, Kao W H Linda, Florez Jose C, Uda Manuela, Wareham Nicholas J, Barroso Inês, Meigs James B: Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes 59(12): 3229-39, Dec 2010.

Shen Haiqing, Bielak Lawrence F, Ferguson Jane F, Streeten Elizabeth A, Yerges-Armstrong Laura M, Liu Jie, Post Wendy, O'Connell Jeffery R, Hixson James E, Kardia Sharon L R, Sun Yan V, Jhun Min A, Wang Xuexia, Mehta Nehal N, Li Mingyao, Koller Daniel L, Hakonarson Hakan, Keating Brendan J, Rader Daniel J, Shuldiner Alan R, Peyser Patricia A, Reilly Muredach P, Mitchell Braxton D: Association of the vitamin D metabolism gene CYP24A1 with coronary artery calcification. Arteriosclerosis, thrombosis, and vascular biology 30(12): 2648-54, Dec 2010.

McInnes L Alison, Nakamine Alisa, Pilorge Marion, Brandt Tracy, Jiménez González Patricia, Fallas Marietha, Manghi Elina R, Edelmann Lisa, Glessner Joseph, Hakonarson Hakon, Betancur Catalina, Buxbaum Joseph D: A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. Molecular autism 1(1): 5, 2010.

Jun Gyungah, Naj Adam C, Beecham Gary W, Wang Li-San, Buros Jacqueline, Gallins Paul J, Buxbaum Joseph D, Ertekin-Taner Nilufer, Fallin M Daniele, Friedland Robert, Inzelberg Rivka, Kramer Patricia, Rogaeva Ekaterina, St George-Hyslop Peter, Cantwell Laura B, Dombroski Beth A, Saykin Andrew J, Reiman Eric M, Bennett David A, Morris John C, Lunetta Kathryn L, Martin Eden R, Montine Thomas J, Goate Alison M, Blacker Deborah, Tsuang Debby W, Beekly Duane, Cupples L Adrienne, Hakonarson Hakon, Kukull Walter, Foroud Tatiana M, Haines Jonathan, Mayeux Richard, Farrer Lindsay A, Pericak-Vance Margaret A, Schellenberg Gerard D: Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Archives of neurology 67(12): 1473-84, Dec 2010.

Hilner Joan E, Perdue Letitia H, Sides Elizabeth G, Pierce June J, Wägner Ana M, Aldrich Alan, Loth Amanda, Albret Lotte, Wagenknecht Lynne E, Nierras Concepcion, Akolkar Beena: Designing and implementing sample and data collection for an international genetics study: the Type 1 Diabetes Genetics Consortium (T1DGC). Clinical trials (London, England) 7(1 Suppl): S5-S32, 2010.

Glessner Joseph T, Wang Kai, Sleiman Patrick M A, Zhang Haitao, Kim Cecilia E, Flory James H, Bradfield Jonathan P, Imielinski Marcin, Frackelton Edward C, Qiu Haijun, Mentch Frank, Grant Struan F A, Hakonarson Hakon: Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder. PloS one 5(12): e15463, 2010.

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St Pourcain Beate, Wang Kai, Glessner Joseph T, Golding Jean, Steer Colin, Ring Susan M, Skuse David H, Grant Struan F A, Hakonarson Hakon, Smith George D, Davey Smith George: Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population. The American journal of psychiatry 167(11): 1364-72, Nov 2010.

Glessner Joseph T, Bradfield Jonathan P, Wang Kai, Takahashi Nagahide, Zhang Haitao, Sleiman Patrick M, Mentch Frank D, Kim Cecilia E, Hou Cuiping, Thomas Kelly A, Garris Maria L, Deliard Sandra, Frackelton Edward C, Otieno F George, Zhao Jianhua, Chiavacci Rosetta M, Li Mingyao, Buxbaum Joseph D, Berkowitz Robert I, Hakonarson Hakon, Grant Struan F A: A genome-wide study reveals copy number variants exclusive to childhood obesity cases. American journal of human genetics 87(5): 661-6, Nov 2010.

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Wang Kai, Li Wei-Dong, Glessner Joseph T, Grant Struan F A, Hakonarson Hakon, Price R Arlen: Large copy-number variations are enriched in cases with moderate to extreme obesity. Diabetes 59(10): 2690-4, Oct 2010.

Swarr Daniel T, Hakonarson Hakon: Unraveling the complex genetic underpinnings of asthma and allergic disorders. Current opinion in allergy and clinical immunology 10(5): 434-42, Oct 2010.

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Wang Kai, Li Mingyao, Hakonarson Hakon: ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic acids research 38(16): e164, Sep 2010.

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Lantieri Francesca, Glessner Joseph T, Hakonarson Hakon, Elia Josephine, Devoto Marcella: Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 153B(6): 1127-33, Sep 2010.

Wang Kai, Bucan Maja, Grant Struan F A, Schellenberg Gerard, Hakonarson Hakon: Strategies for genetic studies of complex diseases. Cell 142(3): 351-3; author reply 353-5, Aug 2010.

Dubinsky Marla C, Mei Ling, Friedman Madison, Dhere Tanvi, Haritunians Talin, Hakonarson Hakon, Kim Cecilia, Glessner Joseph, Targan Stephan R, McGovern Dermot P, Taylor Kent D, Rotter Jerome I: Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease. Inflammatory bowel diseases 16(8): 1357-66, Aug 2010.

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Sleiman Patrick M A, Hakonarson Hakon: Recent advances in the genetics and genomics of asthma and related traits. Current opinion in pediatrics 22(3): 307-12, Jun 2010.

Qu Hui-Qi, Bradfield Jonathan P, Li Quan, Kim Cecilia, Frackelton Edward, Grant Struan F A, Hakonarson Hakon, Polychronakos Constantin: In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium. Human molecular genetics 19(12): 2534-8, Jun 2010.

Glessner Joseph T, Reilly Muredach P, Kim Cecilia E, Takahashi Nagahide, Albano Anthony, Hou Cuiping, Bradfield Jonathan P, Zhang Haitao, Sleiman Patrick M A, Flory James H, Imielinski Marcin, Frackelton Edward C, Chiavacci Rosetta, Thomas Kelly A, Garris Maria, Otieno Frederick G, Davidson Michael, Weiser Mark, Reichenberg Abraham, Davis Kenneth L, Friedman Joseph I, Cappola Thomas P, Margulies Kenneth B, Rader Daniel J, Grant Struan F A, Buxbaum Joseph D, Gur Raquel E, Hakonarson Hakon: Strong synaptic transmission impact by copy number variations in schizophrenia. Proceedings of the National Academy of Sciences of the United States of America 107(23): 10584-9, Jun 2010.

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Wang Kai, Dickson Samuel P, Stolle Catherine A, Krantz Ian D, Goldstein David B, Hakonarson Hakon: Interpretation of association signals and identification of causal variants from genome-wide association studies. American journal of human genetics 86(5): 730-42, May 2010.

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Liu Jason Z, Tozzi Federica, Waterworth Dawn M, Pillai Sreekumar G, Muglia Pierandrea, Middleton Lefkos, Berrettini Wade, Knouff Christopher W, Yuan Xin, Waeber Gérard, Vollenweider Peter, Preisig Martin, Wareham Nicholas J, Zhao Jing Hua, Loos Ruth J F, Barroso Inês, Khaw Kay-Tee, Grundy Scott, Barter Philip, Mahley Robert, Kesaniemi Antero, McPherson Ruth, Vincent John B, Strauss John, Kennedy James L, Farmer Anne, McGuffin Peter, Day Richard, Matthews Keith, Bakke Per, Gulsvik Amund, Lucae Susanne, Ising Marcus, Brueckl Tanja, Horstmann Sonja, Wichmann H-Erich, Rawal Rajesh, Dahmen Norbert, Lamina Claudia, Polasek Ozren, Zgaga Lina, Huffman Jennifer, Campbell Susan, Kooner Jaspal, Chambers John C, Burnett Mary Susan, Devaney Joseph M, Pichard Augusto D, Kent Kenneth M, Satler Lowell, Lindsay Joseph M, Waksman Ron, Epstein Stephen, Wilson James F, Wild Sarah H, Campbell Harry, Vitart Veronique, Reilly Muredach P, Li Mingyao, Qu Liming, Wilensky Robert, Matthai William, Hakonarson Hakon H, Rader Daniel J, Franke Andre, Wittig Michael, Schäfer Arne, Uda Manuela, Terracciano Antonio, Xiao Xiangjun, Busonero Fabio, Scheet Paul, Schlessinger David, St Clair David, Rujescu Dan, Abecasis Gonçalo R, Grabe Hans Jörgen, Teumer Alexander, Völzke Henry, Petersmann Astrid, John Ulrich, Rudan Igor, Hayward Caroline, Wright Alan F, Kolcic Ivana, Wright Benjamin J, Thompson John R, Balmforth Anthony J, Hall Alistair S, Samani Nilesh J, Anderson Carl A, Ahmad Tariq, Mathew Christopher G, Parkes Miles, Satsangi Jack, Caulfield Mark, Munroe Patricia B, Farrall Martin, Dominiczak Anna, Worthington Jane, Thomson Wendy, Eyre Steve, Barton Anne, Mooser Vincent, Francks Clyde, Marchini Jonathan: Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nature genetics 42(5): 436-40, May 2010.

Imielinski Marcin, Hakonarson Hakon: Breaking new ground in inflammatory bowel disease genetics: genome-wide association studies and beyond. Pharmacogenomics 11(5): 663-5, May 2010.

Freathy Rachel M, Mook-Kanamori Dennis O, Sovio Ulla, Prokopenko Inga, Timpson Nicholas J, Berry Diane J, Warrington Nicole M, Widen Elisabeth, Hottenga Jouke Jan, Kaakinen Marika, Lange Leslie A, Bradfield Jonathan P, Kerkhof Marjan, Marsh Julie A, Mägi Reedik, Chen Chih-Mei, Lyon Helen N, Kirin Mirna, Adair Linda S, Aulchenko Yurii S, Bennett Amanda J, Borja Judith B, Bouatia-Naji Nabila, Charoen Pimphen, Coin Lachlan J M, Cousminer Diana L, de Geus Eco J C, Deloukas Panos, Elliott Paul, Evans David M, Froguel Philippe, Glaser Beate, Groves Christopher J, Hartikainen Anna-Liisa, Hassanali Neelam, Hirschhorn Joel N, Hofman Albert, Holly Jeff M P, Hyppönen Elina, Kanoni Stavroula, Knight Bridget A, Laitinen Jaana, Lindgren Cecilia M, McArdle Wendy L, O'Reilly Paul F, Pennell Craig E, Postma Dirkje S, Pouta Anneli, Ramasamy Adaikalavan, Rayner Nigel W, Ring Susan M, Rivadeneira Fernando, Shields Beverley M, Strachan David P, Surakka Ida, Taanila Anja, Tiesler Carla, Uitterlinden Andre G, van Duijn Cornelia M, Wijga Alet H, Willemsen Gonneke, Zhang Haitao, Zhao Jianhua, Wilson James F, Steegers Eric A P, Hattersley Andrew T, Eriksson Johan G, Peltonen Leena, Mohlke Karen L, Grant Struan F A, Hakonarson Hakon, Koppelman Gerard H, Dedoussis George V, Heinrich Joachim, Gillman Matthew W, Palmer Lyle J, Frayling Timothy M, Boomsma Dorret I, Davey Smith George, Power Chris, Jaddoe Vincent W V, Jarvelin Marjo-Riitta, McCarthy Mark I: Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nature genetics 42(5): 430-5, May 2010.

Rothenberg Marc E, Spergel Jonathan M, Sherrill Joseph D, Annaiah Kiran, Martin Lisa J, Cianferoni Antonella, Gober Laura, Kim Cecilia, Glessner Joseph, Frackelton Edward, Thomas Kelly, Blanchard Carine, Liacouras Chris, Verma Ritu, Aceves Seema, Collins Margaret H, Brown-Whitehorn Terri, Putnam Phil E, Franciosi James P, Chiavacci Rosetta M, Grant Struan F A, Abonia J Pablo, Sleiman Patrick M A, Hakonarson Hakon: Common variants at 5q22 associate with pediatric eosinophilic esophagitis. Nature genetics 42(4): 289-91, Apr 2010.

Leyva-Vega Melissa, Gerfen Jennifer, Thiel Brian D, Jurkiewicz Dorota, Rand Elizabeth B, Pawlowska Joanna, Kaminska Diana, Russo Pierre, Gai Xiaowu, Krantz Ian D, Kamath Binita M, Hakonarson Hakon, Haber Barbara A, Spinner Nancy B: Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3. American journal of medical genetics. Part A 152A(4): 886-95, Apr 2010.

Grant Struan F A, Hakonarson Hakon, Schwartz Stanley: Can the genetics of type 1 and type 2 diabetes shed light on the genetics of latent autoimmune diabetes in adults? Endocrine reviews 31(2): 183-93, Apr 2010.

Conlin Laura K, Thiel Brian D, Bonnemann Carsten G, Medne Livija, Ernst Linda M, Zackai Elaine H, Deardorff Matthew A, Krantz Ian D, Hakonarson Hakon, Spinner Nancy B: Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Human molecular genetics 19(7): 1263-75, Apr 2010.

Cappola Thomas P, Li Mingyao, He Jing, Ky Bonnie, Gilmore Joan, Qu Liming, Keating Brendan, Reilly Muredach, Kim Cecelia E, Glessner Joseph, Frackelton Edward, Hakonarson Hakon, Syed Faisel, Hindes Anna, Matkovich Scot J, Cresci Sharon, Dorn Gerald W: Common variants in HSPB7 and FRMD4B associated with advanced heart failure. Circulation. Cardiovascular genetics 3(2): 147-54, Apr 2010.

Zhao Jianhua, Bradfield Jonathan P, Zhang Haitao, Annaiah Kiran, Wang Kai, Kim Cecilia E, Glessner Joseph T, Frackelton Edward C, Otieno F George, Doran James, Thomas Kelly A, Garris Maria, Hou Cuiping, Chiavacci Rosetta M, Li Mingyao, Berkowitz Robert I, Hakonarson Hakon, Grant Struan F A: Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI. Diabetes 59(3): 751-5, Mar 2010.

Zajac Allison, Baek Seung-Hak, Salhab Imad, Radecki Melissa A, Kim Sukwha, Hakonarson Hakon, Nah Hyun-Duck: Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia. American journal of medical genetics. Part A 152A(3): 770-6, Mar 2010.

Van Deerlin Vivianna M, Sleiman Patrick M A, Martinez-Lage Maria, Chen-Plotkin Alice, Wang Li-San, Graff-Radford Neill R, Dickson Dennis W, Rademakers Rosa, Boeve Bradley F, Grossman Murray, Arnold Steven E, Mann David M A, Pickering-Brown Stuart M, Seelaar Harro, Heutink Peter, van Swieten John C, Murrell Jill R, Ghetti Bernardino, Spina Salvatore, Grafman Jordan, Hodges John, Spillantini Maria Grazia, Gilman Sid, Lieberman Andrew P, Kaye Jeffrey A, Woltjer Randall L, Bigio Eileen H, Mesulam Marsel, Al-Sarraj Safa, Troakes Claire, Rosenberg Roger N, White Charles L, Ferrer Isidro, Lladó Albert, Neumann Manuela, Kretzschmar Hans A, Hulette Christine Marie, Welsh-Bohmer Kathleen A, Miller Bruce L, Alzualde Ainhoa, Lopez de Munain Adolfo, McKee Ann C, Gearing Marla, Levey Allan I, Lah James J, Hardy John, Rohrer Jonathan D, Lashley Tammaryn, Mackenzie Ian R A, Feldman Howard H, Hamilton Ronald L, Dekosky Steven T, van der Zee Julie, Kumar-Singh Samir, Van Broeckhoven Christine, Mayeux Richard, Vonsattel Jean Paul G, Troncoso Juan C, Kril Jillian J, Kwok John B J, Halliday Glenda M, Bird Thomas D, Ince Paul G, Shaw Pamela J, Cairns Nigel J, Morris John C, McLean Catriona Ann, DeCarli Charles, Ellis William G, Freeman Stefanie H, Frosch Matthew P, Growdon John H, Perl Daniel P, Sano Mary, Bennett David A, Schneider Julie A, Beach Thomas G, Reiman Eric M, Woodruff Bryan K, Cummings Jeffrey, Vinters Harry V, Miller Carol A, Chui Helena C, Alafuzoff Irina, Hartikainen Päivi, Seilhean Danielle, Galasko Douglas, Masliah Eliezer, Cotman Carl W, Tuñón M Teresa, Martínez M Cristina Caballero, Munoz David G, Carroll Steven L, Marson Daniel, Riederer Peter F, Bogdanovic Nenad, Schellenberg Gerard D, Hakonarson Hakon, Trojanowski John Q, Lee Virginia M-Y: Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nature genetics 42(3): 234-9, Mar 2010.

Mathias Rasika A, Grant Audrey V, Rafaels Nicholas, Hand Tracey, Gao Li, Vergara Candelaria, Tsai Yuhjung J, Yang Mao, Campbell Monica, Foster Cassandra, Gao Peisong, Togias A, Hansel Nadia N, Diette Gregory, Adkinson N Franklin, Liu Mark C, Faruque Mezbah, Dunston Georgia M, Watson Harold R, Bracken Michael B, Hoh Josephine, Maul Pissamai, Maul Trevor, Jedlicka Anne E, Murray Tanda, Hetmanski Jacqueline B, Ashworth Roxann, Ongaco Chrissie M, Hetrick Kurt N, Doheny Kimberly F, Pugh Elizabeth W, Rotimi Charles N, Ford Jean, Eng Celeste, Burchard Esteban G, Sleiman Patrick M A, Hakonarson Hakon, Forno Erick, Raby Benjamin A, Weiss Scott T, Scott Alan F, Kabesch Michael, Liang Liming, Abecasis Gonçalo, Moffatt Miriam F, Cookson William O C, Ruczinski Ingo, Beaty Terri H, Barnes Kathleen C: A genome-wide association study on African-ancestry populations for asthma. The Journal of allergy and clinical immunology 125(2): 336-346.e4, Feb 2010.

Fairfax Benjamin P, Vannberg Fredrik O, Radhakrishnan Jayachandran, Hakonarson Hakon, Keating Brendan J, Hill Adrian V S, Knight Julian C: An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6. Human molecular genetics 19(4): 720-30, Feb 2010.

Sleiman Patrick M A, Flory James, Imielinski Marcin, Bradfield Jonathan P, Annaiah Kiran, Willis-Owen Saffron A G, Wang Kai, Rafaels Nicholas M, Michel Sven, Bonnelykke Klaus, Zhang Haitao, Kim Cecilia E, Frackelton Edward C, Glessner Joseph T, Hou Cuiping, Otieno F George, Santa Erin, Thomas Kelly, Smith Ryan M, Glaberson Wendy R, Garris Maria, Chiavacci Rosetta M, Beaty Terri H, Ruczinski Ingo, Orange Jordan S, Orange Jordan M, Allen Julian, Spergel Jonathan M, Grundmeier Robert, Mathias Rasika A, Christie Jason D, von Mutius Erika, Cookson William O C, Kabesch Michael, Moffatt Miriam F, Grunstein Michael M, Barnes Kathleen C, Devoto Marcella, Magnusson Mark, Li Hongzhe, Grant Struan F A, Bisgaard Hans, Hakonarson Hakon: Variants of DENND1B associated with asthma in children. The New England journal of medicine 362(1): 36-44, Jan 2010.

Dickson Samuel P, Wang Kai, Krantz Ian, Hakonarson Hakon, Goldstein David B: Rare variants create synthetic genome-wide associations. PLoS biology 8(1): e1000294, Jan 2010.

2009

Zhao Jianhua, Bradfield Jonathan P, Li Mingyao, Wang Kai, Zhang Haitao, Kim Cecilia E, Annaiah Kiran, Glessner Joseph T, Thomas Kelly, Garris Maria, Frackelton Edward C, Otieno F George, Shaner Julie L, Smith Ryan M, Chiavacci Rosetta M, Berkowitz Robert I, Hakonarson Hakon, Grant Struan F A: The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI. Obesity (Silver Spring, Md.) 17(12): 2254-7, Dec 2009.

Yang Shuzhang, Wang Kai, Gregory Brittany, Berrettini Wade, Wang Li-San, Hakonarson Hakon, Bucan Maja: Genomic landscape of a three-generation pedigree segregating affective disorder. PloS one 4(2): e4474, 2009.

Scherr Rebecca, Essers Jonah, Hakonarson Hakon, Kugathasan Subra: Genetic determinants of pediatric inflammatory bowel disease: is age of onset genetically determined? Digestive diseases (Basel, Switzerland) 27(3): 236-9, 2009.

Qu H-Q, Bradfield J P, Grant S F A, Hakonarson H, Polychronakos C: Remapping the type I diabetes association of the CTLA4 locus. Genes and immunity 10 Suppl 1: S27-32, Dec 2009.

Qu H-Q, Bradfield J P, Bélisle A, Grant S F A, Hakonarson H, Polychronakos C: The type I diabetes association of the IL2RA locus. Genes and immunity 10 Suppl 1: S42-8, Dec 2009.

Imielinski Marcin, Baldassano Robert N, Griffiths Anne, Russell Richard K, Annese Vito, Dubinsky Marla, Kugathasan Subra, Bradfield Jonathan P, Walters Thomas D, Sleiman Patrick, Kim Cecilia E, Muise Aleixo, Wang Kai, Glessner Joseph T, Saeed Shehzad, Zhang Haitao, Frackelton Edward C, Hou Cuiping, Flory James H, Otieno George, Chiavacci Rosetta M, Grundmeier Robert, Castro Massimo, Latiano Anna, Dallapiccola Bruno, Stempak Joanne, Abrams Debra J, Taylor Kent, McGovern Dermot, Silber Gary, Wrobel Iwona, Quiros Antonio, Barrett Jeffrey C, Hansoul Sarah, Nicolae Dan L, Cho Judy H, Duerr Richard H, Rioux John D, Brant Steven R, Silverberg Mark S, Taylor Kent D, Barmuda M Michael, Bitton Alain, Dassopoulos Themistocles, Datta Lisa Wu, Green Todd, Griffiths Anne M, Kistner Emily O, Murtha Michael T, Regueiro Miguel D, Rotter Jerome I, Schumm L Philip, Steinhart A Hillary, Targan Stephen R, Xavier Ramnik J, Libioulle Cécile, Sandor Cynthia, Lathrop Mark, Belaiche Jacques, Dewit Olivier, Gut Ivo, Heath Simon, Laukens Debby, Mni Myriam, Rutgeerts Paul, Van Gossum André, Zelenika Diana, Franchimont Denis, Hugot J P, de Vos Martine, Vermeire Severine, Louis Edouard, Cardon Lon R, Anderson Carl A, Drummond Hazel, Nimmo Elaine, Ahmad Tariq, Prescott Natalie J, Onnie Clive M, Fisher Sheila A, Marchini Jonathan, Ghori Jilur, Bumpstead Suzannah, Gwillam Rhian, Tremelling Mark, Delukas Panos, Mansfield John, Jewell Derek, Satsangi Jack, Mathew Christopher G, Parkes Miles, Georges Michel, Daly Mark J, Heyman Melvin B, Ferry George D, Kirschner Barbara, Lee Jessica, Essers Jonah, Grand Richard, Stephens Michael, Levine Arie, Piccoli David, Van Limbergen John, Cucchiara Salvatore, Monos Dimitri S, Guthery Stephen L, Denson Lee, Wilson David C, Grant Straun F A, Daly Mark, Silverberg Mark S, Satsangi Jack, Hakonarson Hakon: Common variants at five new loci associated with early-onset inflammatory bowel disease. Nature genetics 41(12): 1335-40, Dec 2009.

Hakonarson Hakon, Grant Struan F A: Genome-wide association studies in type 1 diabetes, inflammatory bowel disease and other immune-mediated disorders. Seminars in immunology 21(6): 355-62, Dec 2009.

Grant Struan Fa, Petri Michelle, Bradfield Jonathan P, Kim Cecilia E, Santa Erin, Annaiah Kiran, Frackelton Edward C, Glessner Joseph T, Otieno F George, Shaner Julie L, Smith Ryan M, Eckert Andrew W, Chiavacci Rosetta M, Imielinski Marcin, Sullivan Kathleen E, Hakonarson Hakon: Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry. The application of clinical genetics 2: 1-5, 2009.

Grant Struan F A, Wang Kai, Zhang Haitao, Glaberson Wendy, Annaiah Kiran, Kim Cecilia E, Bradfield Jonathan P, Glessner Joseph T, Thomas Kelly A, Garris Maria, Frackelton Edward C, Otieno F George, Chiavacci Rosetta M, Nah Hyun-Duck, Kirschner Richard E, Hakonarson Hakon: A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. The Journal of pediatrics 155(6): 909-13, Dec 2009.

Glessner Joseph T, Hakonarson Hakon: Common variants in polygenic schizophrenia. Genome biology 10(9): 236, 2009.

Wei Zhi, Sun Wenguang, Wang Kai, Hakonarson Hakon: Multiple testing in genome-wide association studies via hidden Markov models. Bioinformatics (Oxford, England) 25(21): 2802-8, Nov 2009.

Soranzo Nicole, Spector Tim D, Mangino Massimo, Kühnel Brigitte, Rendon Augusto, Teumer Alexander, Willenborg Christina, Wright Benjamin, Chen Li, Li Mingyao, Salo Perttu, Voight Benjamin F, Burns Philippa, Laskowski Roman A, Xue Yali, Menzel Stephan, Altshuler David, Bradley John R, Bumpstead Suzannah, Burnett Mary-Susan, Devaney Joseph, Döring Angela, Elosua Roberto, Epstein Stephen E, Erber Wendy, Falchi Mario, Garner Stephen F, Ghori Mohammed J R, Goodall Alison H, Gwilliam Rhian, Hakonarson Hakon H, Hall Alistair S, Hammond Naomi, Hengstenberg Christian, Illig Thomas, König Inke R, Knouff Christopher W, McPherson Ruth, Melander Olle, Mooser Vincent, Nauck Matthias, Nieminen Markku S, O'Donnell Christopher J, Peltonen Leena, Potter Simon C, Prokisch Holger, Rader Daniel J, Rice Catherine M, Roberts Robert, Salomaa Veikko, Sambrook Jennifer, Schreiber Stefan, Schunkert Heribert, Schwartz Stephen M, Serbanovic-Canic Jovana, Sinisalo Juha, Siscovick David S, Stark Klaus, Surakka Ida, Stephens Jonathan, Thompson John R, Völker Uwe, Völzke Henry, Watkins Nicholas A, Wells George A, Wichmann H-Erich, Van Heel David A, Tyler-Smith Chris, Thein Swee Lay, Kathiresan Sekar, Perola Markus, Reilly Muredach P, Stewart Alexandre F R, Erdmann Jeanette, Samani Nilesh J, Meisinger Christa, Greinacher Andreas, Deloukas Panos, Ouwehand Willem H, Gieger Christian: A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nature genetics 41(11): 1182-90, Nov 2009.

Zhao Jianhua, Li Mingyao, Bradfield Jonathan P, Wang Kai, Zhang Haitao, Sleiman Patrick, Kim Cecilia E, Annaiah Kiran, Glaberson Wendy, Glessner Joseph T, Otieno F George, Thomas Kelly A, Garris Maria, Hou Cuiping, Frackelton Edward C, Chiavacci Rosetta M, Berkowitz Robert I, Hakonarson Hakon, Grant Struan F A: Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene. Diabetes 58(10): 2414-8, Oct 2009.

Wei Zhi, Wang Kai, Qu Hui-Qi, Zhang Haitao, Bradfield Jonathan, Kim Cecilia, Frackleton Edward, Hou Cuiping, Glessner Joseph T, Chiavacci Rosetta, Stanley Charles, Monos Dimitri, Grant Struan F A, Polychronakos Constantin, Hakonarson Hakon: From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes. PLoS genetics 5(10): e1000678, Oct 2009.

Qu Hui-Qi, Verlaan Dominique J, Ge Bing, Lu Yang, Lam Kevin C L, Grabs Rosemarie, Harmsen Eef, Hudson Thomas J, Hakonarson Hakon, Pastinen Tomi, Polychronakos Constantin: A cis-acting regulatory variant in the IL2RA locus. Journal of immunology (Baltimore, Md. : 1950) 183(8): 5158-62, Oct 2009.

Shaikh Tamim H, Gai Xiaowu, Perin Juan C, Glessner Joseph T, Xie Hongbo, Murphy Kevin, O'Hara Ryan, Casalunovo Tracy, Conlin Laura K, D'Arcy Monica, Frackelton Edward C, Geiger Elizabeth A, Haldeman-Englert Chad, Imielinski Marcin, Kim Cecilia E, Medne Livija, Annaiah Kiran, Bradfield Jonathan P, Dabaghyan Elvira, Eckert Andrew, Onyiah Chioma C, Ostapenko Svetlana, Otieno F George, Santa Erin, Shaner Julie L, Skraban Robert, Smith Ryan M, Elia Josephine, Goldmuntz Elizabeth, Spinner Nancy B, Zackai Elaine H, Chiavacci Rosetta M, Grundmeier Robert, Rappaport Eric F, Grant Struan F A, White Peter S, Hakonarson Hakon: High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome research 19(9): 1682-90, Sep 2009.

Flory James H, Sleiman Patrick M, Christie Jason D, Annaiah Kiran, Bradfield Jonathan, Kim Cecilia E, Glessner Joseph, Imielinski Marcin, Li Hongzhe, Frackelton Edward C, Cuiping Hou, Otieno George, Thomas Kelly, Smith Ryan, Glaberson Wendy, Garris Maria, Chiavacci Rosetta, Allen Julian, Spergel Jonathan, Grundmeier Robert, Grunstein Michael, Magnusson Michael, Grant Struan F A, Bønnelykke Klaus, Bisgaard Hans, Hakonarson Hakon: 17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry. The Journal of allergy and clinical immunology 124(3): 605-7, Sep 2009.

Qu H Q, Grant S F A, Bradfield J P, Kim C, Frackelton E, Hakonarson H, Polychronakos C: Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies. Journal of medical genetics 46(8): 553-4, Aug 2009.

Elia Josephine, Takeda Toshinobu, Deberardinis Rachel, Burke Judy, Accardo Jennifer, Ambrosini Paul J, Blum Nathan J, Brown Lawrence W, Lantieri Francesca, Berrettini Wade, Devoto Marcella, Hakonarson Hakon: Nocturnal enuresis: a suggestive endophenotype marker for a subgroup of inattentive attention-deficit/hyperactivity disorder. The Journal of pediatrics 155(2): 239-44.e5, Aug 2009.

Sievert Angela J, Jackson Eric M, Gai Xiaowu, Hakonarson Hakon, Judkins Alexander R, Resnick Adam C, Sutton Leslie N, Storm Phillip B, Shaikh Tamim H, Biegel Jaclyn A: Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene. Brain pathology (Zurich, Switzerland) 19(3): 449-58, Jul 2009.

Kanetsky Peter A, Mitra Nandita, Vardhanabhuti Saran, Li Mingyao, Vaughn David J, Letrero Richard, Ciosek Stephanie L, Doody David R, Smith Lauren M, Weaver Joellen, Albano Anthony, Chen Chu, Starr Jacqueline R, Rader Daniel J, Godwin Andrew K, Reilly Muredach P, Hakonarson Hakon, Schwartz Stephen M, Nathanson Katherine L: Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. Nature genetics 41(7): 811-5, Jul 2009.

Haldeman-Englert Chad R, Gai Xiaowu, Perin Juan Carlos, Ciano Melissa, Halbach Sara S, Geiger Elizabeth A, McDonald-McGinn Donna M, Hakonarson Hakon, Zackai Elaine H, Shaikh Tamim H: A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay. European journal of medical genetics 52(4): 265-8, Jul-Aug 2009.

Grant Struan F A, Bradfield Jonathan P, Zhang Haitao, Wang Kai, Kim Cecilia E, Annaiah Kiran, Santa Erin, Glessner Joseph T, Thomas Kelly, Garris Maria, Frackelton Edward C, Otieno F George, Shaner Julie L, Smith Ryan M, Imielinski Marcin, Chiavacci Rosetta M, Li Mingyao, Berkowitz Robert I, Hakonarson Hakon: Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry. Obesity (Silver Spring, Md.) 17(7): 1461-5, Jul 2009.

Elia Josephine, Capasso Mario, Zaheer Zafar, Lantieri Francesca, Ambrosini Paul, Berrettini Wade, Devoto Marcella, Hakonarson Hakon: Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A. Psychiatric genetics 19(3): 134-41, Jun 2009.

Diskin Sharon J, Hou Cuiping, Glessner Joseph T, Attiyeh Edward F, Laudenslager Marci, Bosse Kristopher, Cole Kristina, Mossé Yaël P, Wood Andrew, Lynch Jill E, Pecor Katlyn, Diamond Maura, Winter Cynthia, Wang Kai, Kim Cecilia, Geiger Elizabeth A, McGrady Patrick W, Blakemore Alexandra I F, London Wendy B, Shaikh Tamim H, Bradfield Jonathan, Grant Struan F A, Li Hongzhe, Devoto Marcella, Rappaport Eric R, Hakonarson Hakon, Maris John M: Copy number variation at 1q21.1 associated with neuroblastoma. Nature 459(7249): 987-91, Jun 2009.

Capasso Mario, Devoto Marcella, Hou Cuiping, Asgharzadeh Shahab, Glessner Joseph T, Attiyeh Edward F, Mosse Yael P, Kim Cecilia, Diskin Sharon J, Cole Kristina A, Bosse Kristopher, Diamond Maura, Laudenslager Marci, Winter Cynthia, Bradfield Jonathan P, Scott Richard H, Jagannathan Jayanti, Garris Maria, McConville Carmel, London Wendy B, Seeger Robert C, Grant Struan F A, Li Hongzhe, Rahman Nazneen, Rappaport Eric, Hakonarson Hakon, Maris John M: Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nature genetics 41(6): 718-23, Jun 2009.

Bucan Maja, Abrahams Brett S, Wang Kai, Glessner Joseph T, Herman Edward I, Sonnenblick Lisa I, Alvarez Retuerto Ana I, Imielinski Marcin, Hadley Dexter, Bradfield Jonathan P, Kim Cecilia, Gidaya Nicole B, Lindquist Ingrid, Hutman Ted, Sigman Marian, Kustanovich Vlad, Lajonchere Clara M, Singleton Andrew, Kim Junhyong, Wassink Thomas H, McMahon William M, Owley Thomas, Sweeney John A, Coon Hilary, Nurnberger John I, Li Mingyao, Cantor Rita M, Minshew Nancy J, Sutcliffe James S, Cook Edwin H, Dawson Geraldine, Buxbaum Joseph D, Grant Struan F A, Schellenberg Gerard D, Geschwind Daniel H, Hakonarson Hakon: Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS genetics 5(6): e1000536, Jun 2009.

Barrett Jeffrey C, Clayton David G, Concannon Patrick, Akolkar Beena, Cooper Jason D, Erlich Henry A, Julier Cécile, Morahan Grant, Nerup Jørn, Nierras Concepcion, Plagnol Vincent, Pociot Flemming, Schuilenburg Helen, Smyth Deborah J, Stevens Helen, Todd John A, Walker Neil M, Rich Stephen S: Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nature genetics 41(6): 703-7, Jun 2009.

Wang Kai, Zhang Haitao, Ma Deqiong, Bucan Maja, Glessner Joseph T, Abrahams Brett S, Salyakina Daria, Imielinski Marcin, Bradfield Jonathan P, Sleiman Patrick M A, Kim Cecilia E, Hou Cuiping, Frackelton Edward, Chiavacci Rosetta, Takahashi Nagahide, Sakurai Takeshi, Rappaport Eric, Lajonchere Clara M, Munson Jeffrey, Estes Annette, Korvatska Olena, Piven Joseph, Sonnenblick Lisa I, Alvarez Retuerto Ana I, Herman Edward I, Dong Hongmei, Hutman Ted, Sigman Marian, Ozonoff Sally, Klin Ami, Owley Thomas, Sweeney John A, Brune Camille W, Cantor Rita M, Bernier Raphael, Gilbert John R, Cuccaro Michael L, McMahon William M, Miller Judith, State Matthew W, Wassink Thomas H, Coon Hilary, Levy Susan E, Schultz Robert T, Nurnberger John I, Haines Jonathan L, Sutcliffe James S, Cook Edwin H, Minshew Nancy J, Buxbaum Joseph D, Dawson Geraldine, Grant Struan F A, Geschwind Daniel H, Pericak-Vance Margaret A, Schellenberg Gerard D, Hakonarson Hakon: Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459(7246): 528-33, May 2009.

Himes Blanca E, Hunninghake Gary M, Baurley James W, Rafaels Nicholas M, Sleiman Patrick, Strachan David P, Wilk Jemma B, Willis-Owen Saffron A G, Klanderman Barbara, Lasky-Su Jessica, Lazarus Ross, Murphy Amy J, Soto-Quiros Manuel E, Avila Lydiana, Beaty Terri, Mathias Rasika A, Ruczinski Ingo, Barnes Kathleen C, Celedón Juan C, Cookson William O C, Gauderman W James, Gilliland Frank D, Hakonarson Hakon, Lange Christoph, Moffatt Miriam F, O'Connor George T, Raby Benjamin A, Silverman Edwin K, Weiss Scott T: Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. American journal of human genetics 84(5): 581-93, May 2009.

Glessner Joseph T, Wang Kai, Cai Guiqing, Korvatska Olena, Kim Cecilia E, Wood Shawn, Zhang Haitao, Estes Annette, Brune Camille W, Bradfield Jonathan P, Imielinski Marcin, Frackelton Edward C, Reichert Jennifer, Crawford Emily L, Munson Jeffrey, Sleiman Patrick M A, Chiavacci Rosetta, Annaiah Kiran, Thomas Kelly, Hou Cuiping, Glaberson Wendy, Flory James, Otieno Frederick, Garris Maria, Soorya Latha, Klei Lambertus, Piven Joseph, Meyer Kacie J, Anagnostou Evdokia, Sakurai Takeshi, Game Rachel M, Rudd Danielle S, Zurawiecki Danielle, McDougle Christopher J, Davis Lea K, Miller Judith, Posey David J, Michaels Shana, Kolevzon Alexander, Silverman Jeremy M, Bernier Raphael, Levy Susan E, Schultz Robert T, Dawson Geraldine, Owley Thomas, McMahon William M, Wassink Thomas H, Sweeney John A, Nurnberger John I, Coon Hilary, Sutcliffe James S, Minshew Nancy J, Grant Struan F A, Bucan Maja, Cook Edwin H, Buxbaum Joseph D, Devlin Bernie, Schellenberg Gerard D, Hakonarson Hakon: Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459(7246): 569-73, May 2009.

Cichon Sven, Craddock Nick, Daly Mark, Faraone Stephen V, Gejman Pablo V, Kelsoe John, Lehner Thomas, Levinson Douglas F, Moran Audra, Sklar Pamela, Sullivan Patrick F: Genomewide association studies: history, rationale, and prospects for psychiatric disorders. The American journal of psychiatry 166(5): 540-56, May 2009.

Grant Struan F A, Hakonarson Hakon: Genome-wide association studies in type 1 diabetes. Current diabetes reports 9(2): 157-63, Apr 2009.

Wang Kai, Zhang Haitao, Kugathasan Subra, Annese Vito, Bradfield Jonathan P, Russell Richard K, Sleiman Patrick M A, Imielinski Marcin, Glessner Joseph, Hou Cuiping, Wilson David C, Walters Thomas, Kim Cecilia, Frackelton Edward C, Lionetti Paolo, Barabino Arrigo, Van Limbergen Johan, Guthery Stephen, Denson Lee, Piccoli David, Li Mingyao, Dubinsky Marla, Silverberg Mark, Griffiths Anne, Grant Struan F A, Satsangi Jack, Baldassano Robert, Hakonarson Hakon: Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. American journal of human genetics 84(3): 399-405, Mar 2009.

Kathiresan Sekar, Voight Benjamin F, Purcell Shaun, Musunuru Kiran, Ardissino Diego, Mannucci Pier M, Anand Sonia, Engert James C, Samani Nilesh J, Schunkert Heribert, Erdmann Jeanette, Reilly Muredach P, Rader Daniel J, Morgan Thomas, Spertus John A, Stoll Monika, Girelli Domenico, McKeown Pascal P, Patterson Chris C, Siscovick David S, O'Donnell Christopher J, Elosua Roberto, Peltonen Leena, Salomaa Veikko, Schwartz Stephen M, Melander Olle, Altshuler David, Ardissino Diego, Merlini Pier Angelica, Berzuini Carlo, Bernardinelli Luisa, Peyvandi Flora, Tubaro Marco, Celli Patrizia, Ferrario Maurizio, Fetiveau Raffaela, Marziliano Nicola, Casari Giorgio, Galli Michele, Ribichini Flavio, Rossi Marco, Bernardi Francesco, Zonzin Pietro, Piazza Alberto, Mannucci Pier M, Schwartz Stephen M, Siscovick David S, Yee Jean, Friedlander Yechiel, Elosua Roberto, Marrugat Jaume, Lucas Gavin, Subirana Isaac, Sala Joan, Ramos Rafael, Kathiresan Sekar, Meigs James B, Williams Gordon, Nathan David M, MacRae Calum A, O'Donnell Christopher J, Salomaa Veikko, Havulinna Aki S, Peltonen Leena, Melander Olle, Berglund Goran, Voight Benjamin F, Kathiresan Sekar, Hirschhorn Joel N, Asselta Rosanna, Duga Stefano, Spreafico Marta, Musunuru Kiran, Daly Mark J, Purcell Shaun, Voight Benjamin F, Purcell Shaun, Nemesh James, Korn Joshua M, McCarroll Steven A, Schwartz Stephen M, Yee Jean, Kathiresan Sekar, Lucas Gavin, Subirana Isaac, Elosua Roberto, Surti Aarti, Guiducci Candace, Gianniny Lauren, Mirel Daniel, Parkin Melissa, Burtt Noel, Gabriel Stacey B, Samani Nilesh J, Thompson John R, Braund Peter S, Wright Benjamin J, Balmforth Anthony J, Ball Stephen G, Hall Alistair S, Schunkert Heribert, Erdmann Jeanette, Linsel-Nitschke Patrick, Lieb Wolfgang, Ziegler Andreas, König Inke, Hengstenberg Christian, Fischer Marcus, Stark Klaus, Grosshennig Anika, Preuss Michael, Wichmann H-Erich, Schreiber Stefan, Schunkert Heribert, Samani Nilesh J, Erdmann Jeanette, Ouwehand Willem, Hengstenberg Christian, Deloukas Panos, Scholz Michael, Cambien Francois, Reilly Muredach P, Li Mingyao, Chen Zhen, Wilensky Robert, Matthai William, Qasim Atif, Hakonarson Hakon H, Devaney Joe, Burnett Mary-Susan, Pichard Augusto D, Kent Kenneth M, Satler Lowell, Lindsay Joseph M, Waksman Ron, Knouff Christopher W, Waterworth Dawn M, Walker Max C, Mooser Vincent, Epstein Stephen E, Rader Daniel J, Scheffold Thomas, Berger Klaus, Stoll Monika, Huge Andreas, Girelli Domenico, Martinelli Nicola, Olivieri Oliviero, Corrocher Roberto, Morgan Thomas, Spertus John A, McKeown Pascal, Patterson Chris C, Schunkert Heribert, Erdmann Erdmann, Linsel-Nitschke Patrick, Lieb Wolfgang, Ziegler Andreas, König Inke R, Hengstenberg Christian, Fischer Marcus, Stark Klaus, Grosshennig Anika, Preuss Michael, Wichmann H-Erich, Schreiber Stefan, Hólm Hilma, Thorleifsson Gudmar, Thorsteinsdottir Unnur, Stefansson Kari, Engert James C, Do Ron, Xie Changchun, Anand Sonia, Kathiresan Sekar, Ardissino Diego, Mannucci Pier M, Siscovick David, O'Donnell Christopher J, Samani Nilesh J, Melander Olle, Elosua Roberto, Peltonen Leena, Salomaa Veikko, Schwartz Stephen M, Altshuler David: Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nature genetics 41(3): 334-41, Mar 2009.

Kamath Binita M, Thiel Brian D, Gai Xiaowu, Conlin Laura K, Munoz Pedro S, Glessner Joseph, Clark Dinah, Warthen Daniel M, Shaikh Tamim H, Mihci Ercan, Piccoli David A, Grant Struan F A, Hakonarson Hakon, Krantz Ian D, Spinner Nancy B: SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Human mutation 30(3): 371-8, Mar 2009.

Jackson Eric M, Sievert Angela J, Gai Xiaowu, Hakonarson Hakon, Judkins Alexander R, Tooke Laura, Perin Juan Carlos, Xie Hongbo, Shaikh Tamim H, Biegel Jaclyn A: Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors. Clinical cancer research : an official journal of the American Association for Cancer Research 15(6): 1923-30, Mar 2009.

Li Mingyao, Wang Kai, Grant Struan F A, Hakonarson Hakon, Li Chun: ATOM: a powerful gene-based association test by combining optimally weighted markers. Bioinformatics (Oxford, England) 25(4): 497-503, Feb 2009.

Attiyeh Edward F, Diskin Sharon J, Attiyeh Marc A, Mossé Yaël P, Hou Cuiping, Jackson Eric M, Kim Cecilia, Glessner Joseph, Hakonarson Hakon, Biegel Jaclyn A, Maris John M: Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy. Genome research 19(2): 276-83, Feb 2009.

Grant Struan F A, Qu Hui-Qi, Bradfield Jonathan P, Marchand Luc, Kim Cecilia E, Glessner Joseph T, Grabs Rosemarie, Taback Shayne P, Frackelton Edward C, Eckert Andrew W, Annaiah Kiran, Lawson Margaret L, Otieno F George, Santa Erin, Shaner Julie L, Smith Ryan M, Skraban Robert, Imielinski Marcin, Chiavacci Rosetta M, Grundmeier Robert W, Stanley Charles A, Kirsch Susan E, Waggott Daryl, Paterson Andrew D, Monos Dimitri S, Polychronakos Constantin, Hakonarson Hakon: Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes. Diabetes 58(1): 290-5, Jan 2009.

2008

Wang Kai, Chen Zhen, Tadesse Mahlet G, Glessner Joseph, Grant Struan F A, Hakonarson Hakon, Bucan Maja, Li Mingyao: Modeling genetic inheritance of copy number variations. Nucleic acids research 36(21): e138, Dec 2008.

Sleiman Patrick M A, Annaiah Kiran, Imielinski Marcin, Bradfield Jonathan P, Kim Cecilia E, Frackelton Edward C, Glessner Joseph T, Eckert Andrew W, Otieno F George, Santa Erin, Thomas Kelly, Smith Ryan M, Glaberson Wendy, Garris Maria, Gunnlaugsson Sigfus, Chiavacci Rosetta M, Allen Julian, Spergel Jonathan, Grundmeier Robert, Grunstein Michael M, Magnusson Mark, Bisgaard Hans, Grant Struan F A, Hakonarson Hakon: ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry. The Journal of allergy and clinical immunology 122(6): 1225-7, Dec 2008.

Keating Brendan J, Tischfield Sam, Murray Sarah S, Bhangale Tushar, Price Thomas S, Glessner Joseph T, Galver Luana, Barrett Jeffrey C, Grant Struan F A, Farlow Deborah N, Chandrupatla Hareesh R, Hansen Mark, Ajmal Saad, Papanicolaou George J, Guo Yiran, Li Mingyao, Derohannessian Stephanie, de Bakker Paul I W, Bailey Swneke D, Montpetit Alexandre, Edmondson Andrew C, Taylor Kent, Gai Xiaowu, Wang Susanna S, Fornage Myriam, Shaikh Tamim, Groop Leif, Boehnke Michael, Hall Alistair S, Hattersley Andrew T, Frackelton Edward, Patterson Nick, Chiang Charleston W K, Kim Cecelia E, Fabsitz Richard R, Ouwehand Willem, Price Alkes L, Munroe Patricia, Caulfield Mark, Drake Thomas, Boerwinkle Eric, Reich David, Whitehead A Stephen, Cappola Thomas P, Samani Nilesh J, Lusis A Jake, Schadt Eric, Wilson James G, Koenig Wolfgang, McCarthy Mark I, Kathiresan Sekar, Gabriel Stacey B, Hakonarson Hakon, Anand Sonia S, Reilly Muredach, Engert James C, Nickerson Deborah A, Rader Daniel J, Hirschhorn Joel N, Fitzgerald Garret A: Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PloS one 3(10): e3583, 2008.

Grant Struan F A, Li Mingyao, Bradfield Jonathan P, Kim Cecilia E, Annaiah Kiran, Santa Erin, Glessner Joseph T, Casalunovo Tracy, Frackelton Edward C, Otieno F George, Shaner Julie L, Smith Ryan M, Imielinski Marcin, Eckert Andrew W, Chiavacci Rosetta M, Berkowitz Robert I, Hakonarson Hakon: Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP. PloS one 3(3): e1746, 2008.

Diskin Sharon J, Li Mingyao, Hou Cuiping, Yang Shuzhang, Glessner Joseph, Hakonarson Hakon, Bucan Maja, Maris John M, Wang Kai: Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. Nucleic acids research 36(19): e126, Nov 2008.

Mossé Yaël P, Laudenslager Marci, Longo Luca, Cole Kristina A, Wood Andrew, Attiyeh Edward F, Laquaglia Michael J, Sennett Rachel, Lynch Jill E, Perri Patrizia, Laureys Geneviève, Speleman Frank, Kim Cecilia, Hou Cuiping, Hakonarson Hakon, Torkamani Ali, Schork Nicholas J, Brodeur Garrett M, Tonini Gian P, Rappaport Eric, Devoto Marcella, Maris John M: Identification of ALK as a major familial neuroblastoma predisposition gene. Nature 455(7215): 930-5, Oct 2008.

Kugathasan Subra, Baldassano Robert N, Bradfield Jonathan P, Sleiman Patrick M A, Imielinski Marcin, Guthery Stephen L, Cucchiara Salvatore, Kim Cecilia E, Frackelton Edward C, Annaiah Kiran, Glessner Joseph T, Santa Erin, Willson Tara, Eckert Andrew W, Bonkowski Erin, Shaner Julie L, Smith Ryan M, Otieno F George, Peterson Nicholas, Abrams Debra J, Chiavacci Rosetta M, Grundmeier Robert, Mamula Petar, Tomer Gitit, Piccoli David A, Monos Dimitri S, Annese Vito, Denson Lee A, Grant Struan F A, Hakonarson Hakon: Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. Nature genetics 40(10): 1211-5, Oct 2008.

Sindhi Rakesh, Higgs Brandon W, Weeks Daniel E, Ashokkumar Chethan, Jaffe Ronald, Kim Cecilia, Wilson Patrick, Chien Nydia, Glessner Joseph, Talukdar Anjan, Mazariegos George, Barmada M Michael, Frackleton Edward, Petro Nancy, Eckert Andrew, Hakonarson Hakon, Ferrell Robert: Genetic variants in major histocompatibility complex-linked genes associate with pediatric liver transplant rejection. Gastroenterology 135(3): 830-9, 839.e1-10, Sep 2008.

Deardorff Matthew A, Gaddipati Himabindu, Kaplan Paige, Sanchez-Lara Pedro A, Sondheimer Neal, Spinner Nancy B, Hakonarson Hakon, Ficicioglu Can, Ganesh Jaya, Markello Thomas, Loechelt Brett, Zand Dina J, Yudkoff Marc, Lichter-Konecki Uta: Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases. Molecular genetics and metabolism 94(4): 498-502, Aug 2008.

Qu Hui-Qi, Grant Struan F A, Bradfield Jonathan P, Kim Cecilia, Frackelton Edward, Hakonarson Hakon, Polychronakos Constantin: Association analysis of type 2 diabetes Loci in type 1 diabetes. Diabetes 57(7): 1983-6, Jul 2008.

Grant Struan F A, Hakonarson Hakon: Microarray technology and applications in the arena of genome-wide association. Clinical chemistry 54(7): 1116-24, Jul 2008.

Behrens Edward M, Finkel Terri H, Bradfield Jonathan P, Kim Cecilia E, Linton LaKenya, Casalunovo Tracy, Frackelton Edward C, Santa Erin, Otieno F George, Glessner Joseph T, Chiavacci Rosetta M, Grant Struan F A, Hakonarson Hakon: Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis. Arthritis and rheumatism 58(7): 2206-7, Jul 2008.

Maris John M, Mosse Yael P, Bradfield Jonathan P, Hou Cuiping, Monni Stefano, Scott Richard H, Asgharzadeh Shahab, Attiyeh Edward F, Diskin Sharon J, Laudenslager Marci, Winter Cynthia, Cole Kristina A, Glessner Joseph T, Kim Cecilia, Frackelton Edward C, Casalunovo Tracy, Eckert Andrew W, Capasso Mario, Rappaport Eric F, McConville Carmel, London Wendy B, Seeger Robert C, Rahman Nazneen, Devoto Marcella, Grant Struan F A, Li Hongzhe, Hakonarson Hakon: Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. The New England journal of medicine 358(24): 2585-93, Jun 2008.

Hakonarson Hakon, Qu Hui-Qi, Bradfield Jonathan P, Marchand Luc, Kim Cecilia E, Glessner Joseph T, Grabs Rosemarie, Casalunovo Tracy, Taback Shayne P, Frackelton Edward C, Eckert Andrew W, Annaiah Kiran, Lawson Margaret L, Otieno F George, Santa Erin, Shaner Julie L, Smith Ryan M, Onyiah Chioma C, Skraban Robert, Chiavacci Rosetta M, Robinson Luke J, Stanley Charles A, Kirsch Susan E, Devoto Marcella, Monos Dimitri S, Grant Struan F A, Polychronakos Constantin: A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes 57(4): 1143-6, Apr 2008.

Grant Struan F A, Baldassano Robert N, Hakonarson Hakon: Classification of genetic profiles of Crohn's disease: a focus on the ATG16L1 gene. Expert review of molecular diagnostics 8(2): 199-207, Mar 2008.

2007

Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SFA, Kim J, Hakonarson H, Bucan M.: High resolution copy number variation detection: application of an integrated hidden Markov Model on whole-genome SNP genotyping data. Genome Research (In review) 2007.

Baldassano RN, Bradfield JP, Monos DS, Kim CE, Glessner JT, Casalunovo T, Frackelton EC, Otieno FG, Kanterakis S, Shaner JL, Smith RM, Eckert AW, Robinson LJ, Onyiah CC, Abrams DJ, Chiavacci RM, Skraban R, Devoto M, Grant SF, Hakonarson H.: Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease. Gut 56: 1165-1176, 2007.

Wang Kai, Li Mingyao, Hadley Dexter, Liu Rui, Glessner Joseph, Grant Struan F A, Hakonarson Hakon, Bucan Maja: PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome research 17(11): 1665-74, Nov 2007.

Jackson Eric M, Shaikh Tamim H, Zhang Fan, Wainwright Luanne M, Storm Phillip B, Hakonarson Hakon, Zackai Elaine H, Biegel Jaclyn A: Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. American journal of medical genetics. Part A 143A(15): 1767-70, Aug 2007.

Baldassano Robert N, Bradfield Jonathan P, Monos Dimitri S, Kim Cecilia E, Glessner Joseph T, Casalunovo Tracy, Frackelton Edward C, Otieno F George, Kanterakis Stathis, Shaner Julie L, Smith Ryan M, Eckert Andrew W, Robinson Luke J, Onyiah Chioma C, Abrams Debra J, Chiavacci Rosetta M, Skraban Robert, Devoto Marcella, Grant Struan F A, Hakonarson Hakon: Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 5(8): 972-6, Aug 2007.

Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Skraban R, Lu Y, Chiavacci RM, Stanley CA, Kirsch SE, Rappaport EF, Orange JS, Monos DS, Devoto M, Qu HQ, Polychronakos C.: A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature Jul 2007.

Baldassano RN, Bradfield JP, Monos DS, Kim CE, Glessner JT, Casalunovo T, Frackelton EC, Otieno FG, Kanterakis S, Shaner JL, Smith RM, Eckert AW, Robinson LJ, Onyiah CC, Abrams DJ, Chiavacci RM, Skraban R, Devoto M, Grant SF, Hakonarson H.: Association of Variants of the Interleukin-23 Receptor Gene With Susceptibility to Pediatric Crohn's Disease. Clin Gastroenterol Hepatol Page: 2007, Jul 5.

Jackson EM, Shaikh TH, Zhang F, Wainwright LM, Storm PB, Hakonarson H, Zackai EH, Biegel JA.: Atypical Teratoid/Rhabdoid Tumor in a Patient with Beckwith-Wiedemann Syndrome. Am J Med Genet A Page: 2007, Jun 29.

2006

Smith HS, Bjerregaard P, Chan HM, Corriveau A, Ebbesson SO, Etzel RA, Fabsitz RR, Hadonarson H, Hild C, Nobmann ED, Reading J, Tereshchenko L, Young TK, Howard BV.: Research with Arctic peoples: unique research opportunities in heart, lung, blood and sleep disorders. Working groupo summary and recommendations. Int J Circumpolar Health 65: 79-90, 2006.

Helgadottir A, Manolescu A, Helgason A, Thorleifsson G, Thorsteinsdottir U, Gudbjartsson DF, Gretarsdottir S, Magnusson KP, Gudmundsson G, Hicks A, Jonsson T, Grant SF, Sainz J, O'brien SJ, Sveinbjornsdottir S, Valdimarsson EM, Matthiasson SE, Levey AI, Abramson JL, Reilly MP, Vaccarino V, Wolfe ML, Gudnason V, Quyyumi AA, Topol EJ, Rader DJ, Thorgeirsson G, Gulcher JR, Hakonarson H, Kong A, Stefansson K.: A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction. Nat Genet 38: 68-74, 2006.

Arnar DO, Thorvaldsson S, Manolio T, Thorgeirsson G, Hakonarson H, Stefansson K.: Familial aggregation of atrial fibrillation in Iceland. Eur Heart J 27: 708-12, 2006.

2005

Helgadottir A, Gretarsdottir S, St Clair D, Manolescu A, Cheung J, Thorleifsson G, Pasdar A, Grant SF, Whalley LJ, Hakonarson H, Thorsteinsdottir U, Kong A, Gulcher J, Stefansson K, Macleod MJ.: Association between the Gene Encoding 5-Lipoxygenase-Activating Protein and Stroke Replicated in a Scottish Population. Am J Hum Genet 7: 76, 2005.

Hakonarson H, Thorvaldsson S, Helgadottir A, Gudbjartsson D, Zink F, Andresdottir M, Arnar DO, Andersen K, Sigurdsson A, Thorgeirsson G, Jonsson A, Agnarsson U, Bjornsdottir H, Adalsteinsdottir AE, Kristjansson K, Hardarson T, Kristinsson A, Topol EJ, Gulcher J, Kong A, Gurney M, Thorgeirsson G, Stefansson K.: A randomized, placebo-controlled, crossover trial of an inhibitor of the 5-lipoxygenase activating protein (FLAP), DG-031, shows reduction in concentrations of biomarkers of risk of myocardial infarction in patients with coronary artery disease and at-risk variants of the FLAP and leukotriene A4 (LTA4) hydrolase genes. JAMA 293: 2245-56, 2005.

Hakonarson H, Bjornsdottir US, Halapi E, Bradfield J, Zink F, Helgadottir H, Bjarkarson I, Arnason T, Thorarinsson F, Gudmundsdottir AS, Ingvarsson S, Amundadottir L, Andresdottir M, Adalsteinsdottir EA, Gislason D, Gislason T, Gurney M, Gulcher J, Stefansson K.: Profiling of genes expressed in peripheral blood mononuclear cells predicts glucocorticoid sensitivity in asthma patients. PNAS 102(41): 14789-14794, 2005.

Blakey J, Halapi E, Bjornsdottir US, Wheatley A, Kristinsson S, Upmanyu R, Stefansson K, Hakonarson H, Hall IP.: Contribution of ADAM33 polymorphisms to the population risk of asthma. Thorax  60(4): 274-6, 2005.

2004

Whelan R, Kim C, Leiter J, Grunstein MM, Hakonarson H.: Role and regulation of IL-1 molecules in pro-asthmatic sensitized airway smooth muscle. Eur Respir J 24: 559-67, 2004.

Pack AI, Gislason T, Hakonarson H.: Linkage to apnea-hypopnea index across the life-span: is this a viable strategy? Am J Respir Crit Care Med 170: 1260, 2004.

Laufs J, Andrason H, Sigvaldason A, Halapi E, Thorsteinsson L, Jonasson K, Soebech E, Gislason T, Gulcher JR, Stefansson K, Hakonarson H.: Association of Vitamin D Binding Protein Variants with Chronic Mucus Hypersecretion in Iceland. American Journal of PharmacoGenomics 4(1): 63-68(6), 2004.

Birkisson IF, Halapi E, Bjornsdottir US, Shkolny DL, Adalsteinsdottir E, Arnason T, Gislason D, Gislason T, Gulcher J, Stefansson K, Hakonarson H.: Genetic approaches to assessing evidence for a T helper type 1 cytokine defect in adult asthma. Am J Respir Crit Care Med May 2004.

Helgadottir A, Manolescu A, Thorleifsson G, Gretarsdottir S, Jonsdottir H, Thorsteinsdottir U, Samani NJ, Gudmundsson G, Grant SF, Thorgeirsson G, Sveinbjornsdottir S, Valdimarsson EM, Matthiasson SE, Johannsson H, Gudmundsdottir O, Thorhallsdottir M, Andresdottir M, Frigge ML, Topol EJ, Kong A, Gudnason V, Hakonarson H, Gulcher JR, Stefansson K.: The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nat Genet, online Feb 2004.

2002

Hakonarson H, Kim C, Whelan R, Grunstein MM.: T lymphocyte-mediated changes in airway smooth muscle responsiveness are attributed to induced autocrine actions and release of IL-5 and IL-1beta. J Allergy Clin Immunol 110: 624-33, 2002.

Hakonarson H, Bjornsdottir US, Halapi E, Palsson S, Adalsteinsdottir E, Gislason D, Finnbogason G, Gislason T, Kristjansson K, Arnason T, Birkisson I, Frigge ML, Kong A, Gulcher JR, Stefansson K.: A major susceptibility gene for asthma maps to chromosome 14q24. Am J Hum Genet 71: 483, 2002.

Grunstein MM, Hakonarson H, Leiter J, Chen M, Whelan R, Grunstein JS, Chuang S.: IL-13-dependent autocrine signaling mediates altered responsiveness of IgE-sensitized airway smooth muscle. Am J Physiol Lung Cell Mol Physiol 282: L520-8, 2002.

Gislason T, Johannsson JH, Haraldsson A, Olafsdottir BR, Jonsdottir H, Kong A, Frigge ML, Jonsdottir GM, Hakonarson H, Gulcher J, Stefansson K.: Familial predisposition and cosegregation analysis of adult obstructive sleep apnea and the sudden infant death syndrome. Am J Respir Crit Care Med 166: 833-8, 2002.

2001

Hakonarson H, Thorsson A.: Common causes of sleep disturbances in Icelandic children who undergo sleep studies. Laeknabladid 87(10): 799-804, 2001.

Hakonarson H, Halapi E, Whelan R, Gulcher J, Stefansson K, Grunstein MM.: Association between IL-1beta/TNF-alpha-induced glucocorticoid-sensitive changes in multiple gene expression and altered responsiveness in airway smooth muscle. Am J Respir Cell Mol Biol 25(6): 761-71, 2001.

Hakonarson H, Bjornsdottir US, Ostermann E, Arnason T, Adalsteinsdottir AE, Halapi E, Shkolny D, Kristjansson K, Gudnadottir SA, Frigge ML, Gislason D, Gislason T, Kong A, Gulcher J, Stefansson K.: Allelic frequencies and patterns of single-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland. Am J Respir Crit Care Med 164(11): 2036-44, Dec 2001.

Grunstein MM, Hakonarson H, Whelan R, Yu Z, Grunstein JS, Chuang S.: Rhinovirus elicits proasthmatic changes in airway responsiveness independently of viral infection. J Allergy Clin Immunol 108(6): 997-1004, Dec 2001.

Agustsson TT, Hakonarson H, Olafsson I, Hjaltadottir G, Thornorsson AV.: A mutation detection in a transcription factor for adipocyte development in children with severe obesity. Laeknabladid 87(2): 119-124, 2001.

Grunstein MM, Hakonarson H, Leiter J, Chen M, Whelan R, Grunstein JS, Chuang S.: Autocrine signaling by IL-10 mediates altered responsiveness of atopic sensitized airway smooth muscle. Am J Physiol Lung Cell Mol Physiol 281(5): L1130-7, Nov 2001.

Grunstein MM, Hakonarson H, Hodinka RL, Maskeri N, Kim C, Chuang S.: Mechanism of cooperative effects of rhinovirus and atopic sensitization on airway responsiveness. Am J Physiol Lung Cell Mol Physiol 280(2): L229-38, Feb 2001.

Hakonarson H, Kim C, Whelan R, Campbell D, Grunstein MM.: Bi-directional activation between human airway smooth muscle cells and T lymphocytes: role in induction of altered airway responsiveness. J Immunol 166(1): 293-303, Jan 2001.

2000

Grunstein MM, Hakonarson H, Maskeri N, Kim C, Chuang S.: Intrinsic ICAM-1/LFA-1 activation mediates altered responsiveness of atopic asthmatic airway smooth muscle. Am J Physiol Lung Cell Mol Physiol 278: L1154-63, Jun 2000.

Grunstein MM, Hakonarson H, Maskeri N, Kim C, Chuang S.: Autocrine cytokine signaling mediates effects of rhinovirus on airway responsiveness. Am J Physiol Lung Cell Mol Physiol 278(6): L1146-53, Jun 2000.

1999

Rajah R, Nachajon RV, Collins MH, Hakonarson H, Grunstein MM, Cohen P.: Elevated levels of the IGF-binding protein protease MMP-1 in asthmatic airway smooth muscle. Am J Respir Cell Mol Biol 20: 199-208, 1999.

Hakonarson H, Maskeri N, Kim C, Grunstein MM.: Autocrine interaction between IL-5 and IL-1beta mediates altered responsiveness of atopic asthmatic sensitized airway smooth muscle. J Clin Invest 104: 657-667, 1999.

Hakonarson H, Carter C, Maskeri N, Kim C, Grunstein MM.: Regulation of TH1- and TH2-type cytokine expression and action in asthmatic sensitized airway smooth muscle. J Clin Invest 103: 1077-1087, 1999.

Hakonarson H, Carter C, Maskeri N, Hodinka R, Grunstein MM.: Rhinovirus-mediated changes in airway smooth muscle responsiveness: induced autocrine role of interleukin-1beta. Am J Physiol (Lung Cell Mol Physiol 21) Page: L13-L21, 1999.

Hakonarson H, Carter C, Kim C, Grunstein MM.: Regulation and Action of the Low-Affinity IgE Receptor, Fc RII (CD23), in Asthmatic Airway Smooth Muscle. J Allergy Clin Immunol 104: 575-584, 1999.

1998

Hakonarson H, Maskeri N, Carter C, Hodinka RL, Campbell D, Grunstein MM.: Mechanism of rhinovirus-induced changes in airway smooth muscle responsiveness. J Clin Invest 102: 1732-1741, 1998.

Hakonarson H, Grunstein MM.: Autologously up-regulated Fc receptor expression and action in airway smooth muscle mediates its altered responsiveness in the atopic asthmatic sensitized state. Proc Natl Acad Sci USA 95: 5257-5262, 1998.

Hakonarson H, Grunstein MM.: Regulation of second messengers associated with airway smooth muscle contraction and relaxation. Am J Respir Crit Care Med 158: S115-S122, 1998.

1997

Hakonarson H, Herrick DJ, Gonzalez-Serrano PG, Grunstein MM.: Autocrine role of interleukin 1beta in altered responsiveness of atopic asthmatic sensitized airway smooth muscle. J Clin Invest 99: 117-124, 1997.

Hakonarson H, Carter C, Kim C, Grunstein MM.: Regulation and Action of the Low-Affinity IgE Receptor, Fc RII (CD23), in Asthmatic Airways Smooth Muscle. J Allerg Clin Immunol, 1999, in Altered Responsiveness of Atopic Asthmatic Sensitized Airway Smooth Muscle. J Clin Invest, 1997 99: 117-124.

1996

Hakonarson H, Herrick DJ, Gonzalez-Serrano PG, Grunstein MM.: Mechanism of cytokine-induced modulation of beta-adrenoceptor responsiveness in airway smooth muscle. J Clin Invest 97: 2593-2600, 1996.

1995

Hakonarson H, Moskovitz J, Daigle KL, Cassidy SB, Cloutier MM.: Pulmonary function abnormalities in Prader-Willi syndrome. J Pediatr 126: 565-70, 1995.

Hakonarson H, Herrick DJ, Grunstein MM.: Mechanism of impaired beta-adrenoceptor responsiveness in atopic sensitized airway smooth muscle. Am J Physiol (Lung Cell Mol Physiol) 269: L645-652, 1995.

1991

Steinsen H, Hakonarson H.: Reiters Syndrome, Long-term Prophylactic Antibiotic Therapy.  Icel Med J 77: 319-323, 1991.

1989

Hakonarson H, Steinsen H.: Remitting Seronegative Symmetrical Synovitis with Pitting Edema. Icel Med J 75: 187-189, 1989.

Books

Chapters

2013

Wei Z, Baldassano S, Hakonarson H. Petar Mamula, Jonathan E. Markowitz, Robert N. Baldassano. : Genetics of Inflammatory Bowel Diseases. In: Pediatric Inflammatory Bowel Disease; Eds: Page: 3-12, 2013.

2012

Ferraro TN, Dlugos DJ, Hakonarson H, Buono RJ: Strategies for Studying the Epilepsy Genome. In. Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV,editors.  (eds.). Jasper's Basic Mechanisms of the Epilepsies. 4th edition, 2012.

2011

Marina B and Hakonarson H: The Genetics of Type 1 Diabetes. InTech. Stephen I Deutsch and Maria Urbano (eds.). 2011.

Connolly JM and Hakonarson H: The Genetics of Ausism Spectrum Disorders. InTech. Stephen IDeutsch and Maria Urbano (eds.). 2011.

2009

Grant S, Hakonarson H.: Pharmacogenetic Applications in Children. In: Methods in Pharmacology and Toxicology: Pharmacogenomics and Personalized Medicine. Nadine Cohen Ed 2009.

Grant S & Hakonarson H.  : Genetics and Proteomics of Asthma. In Asthma Genetics. Stephen Holgate Ed, (eds.). 2009.

2008

Grant S.F.A., R.N. Baldassano and H. Hakonarson: Classification of genetic profiles of Crohn's disease: A focus on the ATG16L1 gene  Expert Rev Mol Diagn 8(2), 2008.

2007

Hakonarson H, Halapi E.: Identification of Treatment Response Genes. In: Pharmacogenomics. Hall, Pirmohamed and Tucker (eds.). 2007.

2006

Halapi E, Hakonarson H.: Introduction to genetics. In: Genetics of Asthma and COPD. Postma and Weiss (eds.). Taylor & Francis Group LLC, 2006

2005

Halapi E, Hakonarson H.: Application of Pharmacogenomic Approaches In The Study of Drug Response in Complex Diseases. Current Pharmacogenomics 3: 87-95, 2005.

1997

Hakonarson H, Grunstein MM.: Management of Childhood Asthma. In: Asthma. Barnes PJ, Grunstein MM, Leff A, Woolcock AJ. (eds.). Raven Press, 2(126): 1847-1868, 1997.

1996

Hakonarson H.: Bronchiolitis. In: The Five Minute Pediatric Consult. William M. Schwartz (eds.). Williams and Wilkins, Page: 178-180, 1996.

Hakonarson H.: Asthma. In: The Five Minute Pediatric Consult. William M. Schwartz (eds.). Williams and Wilkins, Page: 126-129, 1996.

Hakonarson H.: Apnea. In: The Five Minute Pediatric Consult. William M. Schwartz (eds.). Williams and Wilkins, Page: 110-112, 1996.

Hakonarson H, Kravitz RM.: Hemoptysis. In: Clinical Handbook of Pediatrics (CHOP). William M. Schwartz (eds.). Williams and Wilkins  Page: 344-352, 1996 (2nd edition, 1999).

Posters and Presentations

2015

Z. Wei1, X. Chang2, L. Lima2, T. Wang2, A. Cederquist2, E. Ryan2, J. Garifallou2, M. Khan2, Y. Liu2, J. Li2, P. Sleiman2,3,4, H. Haknonarson2,3,4. 1) New Jersey Institute of Technology, Newark, New Jersey, 07102, USA; 2) The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA; 3) Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, 19104, USA; 4) Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA. : Genetic risk variants converge in NMDAR interactome underlying schizophrenia. Poster Presentation, ASHG Baltimore, MD Oct 2015 Oct 2015.

Y. R. Li1,2, S. D. Zhao3, J. Li1, J. A. Ellis4, R. N. Baldassano5,6,E. T. L. Prak7, H. Li8, B. J. Keating5, H. Hakonarson1,5,9. 1) The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; 2) Medical Scientist Training Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA; 3) Department of Statistics, University of Illinois at Urbana-Champaign, Champaign, IL USA. sdzhao@illinois. edu; 4) Genes, Environment and Complex Disease, Murdoch Children's Research Institute, Parkville, Victoria, Australia;; 5) Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA;; 6) Division of Gastroenterology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA;; 7) Department of Pathology and Lab Medicine, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, USA;; 8) Department of Biostatistics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA;; 9) Division of Pulmonary Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA;. : Genetic Sharing and Heritability of Pediatric Age of Onset Autoimmune Diseases. Poster Presentation, ASHG,Baltimore, MD Oct 2015 Oct 2015.

Y. Liu, X. Chang, P. Sleiman, H. Hakonarson. Center for Applied Genomics CAG, The Children's Hospital of Philadelphia CHOP, Philadelphia, PA. : Non-coding RNA dysregulation in schizophrenia patients observed in the amygdala region based on RNA-sequencing. Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

Y. Guo1, L. Worgan2, L. Tian1, C. Hou1, F. Collins3,4,5, H.Hakonarson1,6, J. Christodoulou4,5. 1) Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; 2) Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia; 3) Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; 4) University of Sydney, Sydney, NSW, Australia; 5) Western Sydney Genetics Program, Children's Hospital Westmead, Westmead, NSW, Australia; 6)  Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.: Whole exome sequencing identified a splice site mutation in ARV1 in a consanguineous family with intellectual disability, epilepsy and neurodegeneration. Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

R. Pellegrino, B. Almoguera, L. Vazquez, D. Abrams, T. Watanabe, L. Tiang, J. Garifallou, F. Mafra, J. Conolly, F.Mentch, P. Sleiman, H. Hakonarson. CAG, Children's Hospital of Philadelphia, Philadelphia, PA. : Rare variants in ALOX5 may be associated with the risk of hypersensitivity reaction to penicillin.  Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

R. Pandey1, M. Bakay1, S. Yoeun1, J. Kushner2, J. S. Orange3, H. Hakonarson1,4. 1) The Centre for Applied Genomics, Children's Hospital Of Philadelphia, Philadelphia, PA; 2) Section of Pediatric Diabetes and Endocrinology, Department of Pediatric Medicine, Endocrine-Metabolism, Texas Children's Hospital, Houston, TX; 3) Section of Immunology, Allergy, and Rheumatology, Department of Pediatric Medicine, Texas Children's Hospital, Houston, TX; 4) Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. : The type 1 diabetes susceptibility gene CLEC16A restrains NK cell function by modulating expression of NK receptors via C Vps-HOPS complex, CART and autophagy.  Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

Qiu1, H. Hakonarson1,2. 1) Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA; 2) Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. : Bitmap indexing of genotypes improves functionality of an in-house distributed data query system.  Poster Presentation, ASHG Baltimore, MD Oct 2015 Oct 2015.

P. Sleiman1,2, B. Almoguera1, J. Connolly1, F. Mentch1, L. Vazquez1, E. Hysinger1, H. Hakonarson1,2, The electronic Medical Records and Genomics (eMERGE) Network. 1) Center for Applied Genomics, Children's Hospital of Philadelphia, PA, USA; 2) Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, PA, USA. : Common Variants in PTGES Associated with Asthma Susceptibility in African Americans.  Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

M. March1, P. M. A Sleiman1, J. McElwee2, D. Diogo2, F. Mentch1, K. Thomas1, C. Hou1, C. Kim1, H. Hakonarson1. 1) Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; 2) Merck Research Laboratories, Department of Genetics & Pharmacogenomics (GpGx), Boston, MA. : Association of rs6967330, a functional variant of CDHR3, with asthma exacerbation and rhinovirus infections in African Americans. Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

M. Bakay1, J. Li1, I. Fung2, J. T. Glessner1, R. Pandey1, Z. Wei5, F. D. Mentch1, R. Pellegrino1, T. Wang1, C. Kim1, C. Hou1, F. Wang1, R. M. Chiavacci1, K. A. Thomas2, J. M. Spergel2,4,6, H. Hakonarson1,3,4, P. Sleiman1,3,4. 1) Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; 2) Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; 3) Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; 4) Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; 5) Department of Computer Science, New Jersey Institute of Technology, Newark, NJ 08540, USA; 6) Center for Pediatric Eosinophilic Disorders, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. : Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.  Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

Li1, G. van Ingen2, A. Goedegebure2, M. E. March1, V. W. V. Jaddoe3, F. D. Mentch1, A. G. Uitterlinden3, H. A. Moll3, C. M. van Duijn3, F. Rivadeneira3,R. J. Baatenburg de Jong2, M. P. van der Schroeff2, H. Hakonarson1,4,5. 1)Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; 2) Department of Otolaryngology, Head and Neck Surgery,Erasmus University Medical Center, the Netherlands; 3) The Generation R Study, Department of Epidemiology, Erasmus University Medical Center, the Netherlands; 4) Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; 5) Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. : Genome-wide association study of acute otitis media in children. Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

Li D, Bhoj EJ, Tian L, Harr MH, Dubbs HA, Hou C, Kim CE, Mentch FD, Chiavacci R, McCormick E, Falk MJ, Zackai EH, Hakonarson H. : De novo mutations in novel histone and epigenetic regulator genes cause multiple genetic syndromes.  Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

L. Vazquez1,B. Almoguera1, J. Connolly1, P. Sleiman1, F. Mentch1, J. Linneman2,M. Brilliant2, M. Williams3, K. Borthwick3, A. Sundaresan3, H. Hakonarson1,4. 1) Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; 2) Marshfield Clinic, Marshfield, WI; 3) Geisinger Health System, Danville, PA; 4) Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. : A meta-analysis of atopic dermatitis reveals novel loci. Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

K. Nguyen1,4, D. Li1, L. Tian1,R. Pellegrino da Silva1, C. Kao1, R. Pandey1, M. Bakay1, P. Sleiman1,2,3,H. Hakonarson1,2,3. 1) Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA; 2) Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; 3) Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA; 4) Center for Dynamic Data Analytics, Rutgers University, Piscataway, NJ.  : In silico analyses of complex systems for the development of novel therapeutics in rare and orphan diseases.  Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

J. P. Bradfield1, J. F. Felix4,5,6, V. W. V. Jaddoe4,5,6, S. F. A. Grant1,2,3, Early Growth Genetics Consortium. 1) Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; 2) Divisions of Human Genetics and Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA; 3) Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; 4) The Generation R Study Group, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands; 5) Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands; 6) Department of Paediatrics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands. : A trans-ethnic meta-analysis of genome wide association studies reveals new loci associated with childhood obesity.  Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

J. J. Connolly1, B. Almoguera1,F. Mentch1, L. Vazquez1, D. J. Abrams1, P. Sleiman1,2, T. Lingren3, B. Namjou4,T. Froehlich5, J. B. Harley4, H. Hakonarson1,2, The Electronic Medical Records and Genomics (eMERGE) Network. 1) Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; 2) Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; 3) Department of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; 4) Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center and US Department of Veterans Affairs Medical Center, Cincinnati, OH, USA; 5) Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. : Variants in CNTN5 Associated with ADHD Susceptibility: A Meta-Analysis of Two Pediatric Cohorts. Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

E. J. Bhoj, D. Li, M. H. Harr, L. Tian, T. Wang, Y. Zhao, H. Qiu, F. Mentch, C. Kim, E. H. Zackai, H. Hakonarson. Children's Hospital of Philadelphia Philadelphia PA. : Novel gene discovery across a large cohort of patients with syndromic craniofacial anomalies.  Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

C. Kao, R. Pellegrino, J. Garifallou, F. -X. Wang, J. Snyder, H. Hakonarson. Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA. : High-Throughput Screening for Rare Copy Number Variants across a ~45,000 Subject Pediatric Biobank by qPCR. Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

C. J. Cardinale1, Z. Wei2, L. Tian1, L. Lima1, N. Dawany3, M. Devoto4, R. N. Baldassano3, H. Hakonarson1, J. R. Kelsen3. 1) Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; 2) Department of Computer Science, New Jersey Institute of Technology, Newark, NJ; 3) Division of Gastroenterology, Children's Hospital of Philadelphia, Philadelphia, PA; 4) Division of Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA. : Whole exome sequencing of very early-onset inflammatory bowel disease shows both family-based and case/control associations with CCDC40 and MAPK12. Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

B. Almoguera, L. Vazquez, D. Abrams, T. Watanabe, L. Tiang, R. Pellegrino, J. Garifallou, F. Mafra, J. Connolly, F. Mentch, P. Sleiman, H. Hakonarson. Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.: Investigation of the role of rare variation in eighty-two pharmacogenes in the risk of vincristine-induced peripheral neuropathy in children. Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

A. S. Wenocur1,L. Tian1, K. Nguyen1,4, P. M. Abou-Sleiman1,2,3, H. Hakonarson1,2,3. 1) Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; 2) Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; 3) Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA; 4) Center for Dynamic Data Analytics, Rutgers University, Piscataway, NJ. : SuperVario: a Common Repository for Variant Data.   Poster Presentation, ASHG, Baltimore, MD Oct 2015 Oct 2015.

Invited Lectures

2016

Hakonarson H. "22Q11.2DS as a Model for Translational Medicine", The 10th Biennial International 22Q11.2 & Family Meeting, Sirmione, Italy, Jul, 2016.

Hakonarson H. "What are New Ways to Understand and Potentially Alter Long Term Outcome - Personalized Medicine", The 10th Biennial International 22q11.2 & Family Meeting, Sirmione, Italy, Jul, 2016.

Hakonarson H. "Resolving the Dark Matter of the Exome: Using Linked Reads and Exome Bait Capture to Map NGS Short Reads Differentially to Genes Versus their Paralogous Segments", Nature.com Webinar, Jun, 2016.

Hakonarson H. "The Future of Genomics Medicine in Patient Care", The Aron B. Fisher Annual Lecture for the Respiration Research Retreat at the University of Pennsylvania, Philadelphia, PA, Jun, 2016.

Hakonarson H. "Resolving the Dark Matter of the Exome: Using Linked Reads and Exome Capture to Enhance Mapping of NGS Short Reads", The European Society of Human Genetics, Barcelona, Spain, May, 2016.

Hakonarson H. "Recent Genomics Discoveries at CHOP with Clinical Implications", Genomics Medicine Seminar Presentation in Human Investigation at Thomas Jefferson University, Philadelphia, PA, May, 2016.

Hakonarson H. "Gene Networks Underlying Autism Targeted for Therapeutic Intervention", ICARE4 Autism, Montefiore Medical Center, Univ Hospital of Albert Einstein College of Medicine, New York, NY, May, 2016.

Hakonarson H. "Development of Novel Therapies for ADHD and Related Neurodevelopmental Disorders", Late Breaking Topics Session: The Future of Genomics Medicine Conference, Scripps, La Jolla, CA, Mar, 2016.

Hakonarson H. "Beyond the Exome: Phasing and Detection of Structural Variants for the Elucidation of Complex Genotypes", AGBT Annual Meeting, Orlando, FL, Feb, 2016.

Hakonarson H. "CHOP Biobanking Impact on Genetic Discoveries", Presentation at UCSF Biobanking & Biospecimen Science Symposium, San Francisco, CA, Feb, 2016.

Hakonarson H. "Precision Medicine in Neurodevelopmental Disorders", Reunion Hall Auditorium John Morgan Building, Philadelphia, PA, Jan, 2016.

2015

Hakonarson H. "Impact of Genetically Stratified Patient Population in Drug Development - Focus on TSLP", Presentation at Aztra Zeneca/Medimmune, One Medimmune Way, Gaithersburg, MD, Dec, 2015.

Hakonarson H. "Implementation of Clinical Exome Sequencing", Cowen and Company 4th Annual Health Care Unlocked Conference Digital Health & Emerging Tools for Complex/Chronic Diseases, The Liberty Hotel, Boston, MA, Dec, 2015.

Hakonarson H. "Role of NGS in Genomics Medicine", NGS Seminar Series sponsored by Agilent, Philadelphia, PA, Nov, 2015.

Hakonarson H. "The Future of Genomics Medicine in the New Sequencing Arena", International Symposium on: The Impact of Genomic Deep Sequencing, Stabat Mater Hall in the Archiginnasio Palace/Piazza Galvani, Bologna, Nov, 2015.

Hakonarson H. "The Future of Genomics Medicine in Patient Care: Experience from CHOP", Genomics Symposium University of Madrid, Madrid, Spain, Oct, 2015.

Hakonarson H. "Genetics of Complex Pediatric Disorders", The American Society of Human Genetics (ASHG) Annual Meeting, Baltimore, MD, Oct, 2015.

Hakonarson H. "Personalized Medicine Integration in Early Onset Asthma - The Issues and Opportunities", Diaceutics Personalized Medicine Convergence Meeting, Philadelphia, PA, Sep, 2015.

Hakonarson H. "Genetics of Pulmonary Function Testing in Children", Annual Grover Conference, Sedalia Colorado, Sep, 2015.

Hakonarson H. "Early Diagnosis of Rare and Orphan Diseases Using Whole Exome Sequencing", Universidad Rey Juan Carlos, Madrid, Spain, Sep, 2015.

Hakonarson H. "Pharmacogenomics in the eMERGE Networks" Fundaction Jimenez Diaz, UAM, Madrid, Spain, Sep, 2015.

Hakonarson H. "Role of Non-Neuronal Cholinergic System in Atopic Skin Disorders". NeXeption Therapeutics, Inc. Malvern, PA., Jul, 2015.

Hakonarson H. "Discovery and Utility of Genomic Biomarkers in Expediting Therapeutic Development in Complex Diseease". MedImmune. Gaithersburg, MD., Jul, 2015.

Hakonarson H. "Genetics of Complex Pediatric Disorders - Recent Genomics Advances at the Center for Applied Genomics at CHOP" Rady Children's Hospital. San Diego, CA., Jun, 2015.

Hakonarson H. "Understanding Genomics Variation: Precision Medicine in Pediatric Care and Therapeutic Development". Functional Genomics & Predictive Medicine Conference. Boston, MA, May, 2015.

Hakonarson H. "Genetics of Asthma and Auto-Inflammatory Diseases - Innovative Therapeutic Opportunities" Presentation at the Research Symposium Division of Pulmonary Medicine at CHOP. Philadelphia, PA., Mar, 2015.

Hakonarson H. "Genomics Medicine at CAG". Presentation at CHOP's Bioinformatics Retreat Day. Philadelphia, PA., Mar, 2015.

Hakonarson H. "The Bio Sciences: Will Genetic Science Cure Us or Enslave Us?" Presentation at the World Affairs Council. Drexel University, Philadelphia, PA., Feb, 2015.

Hakonarson H. "The Impact of Genomic Variation in Clinical Development". Presentation at the Genomics in Medicine Symposium, Part of Molecular Medicine Tri-Conference. San Francisco, CA., Feb, 2015.

Hakonarson H. "Application of Genetic Biomarkers in Clinical Service and Drug Development-The Future of Genomic Medicine". The Genome Institute of Singapore. Singapore., Feb, 2015.

Awards and Honors

2016, The 2016 Inaugural Award for Excellence in Mentoring Research Trainees at CHOP

2012, Induction into the ASSOCIATION OF AMERICAN PHYSICIANS as active member

2011, The Russell A. Hibbs Award for the Best Clinical Science Presentation from the Scoliosis Research Society

2009, The Scripps Genomics Medicine Award: Pioneering Discoveries in Pediatric Genomics

2002, Science Excellence Award for Pediatric Research; The University of Iceland School of Medicine

1997, Molecular Approaches to Pediatric Science-Child Health Research Center (MAPS-CHRC) Award

1996, Institutional Developmental Research Award, Joseph Stokes, Jr. Research Institute, Children's Hospital of Philadelphia

1995, Parker B. Francis Research Award

1992, The James Kangos Memorial Teaching Award for "Excellence in patient care by a pediatric resident", Hartford Hospital/University of Connecticut

1992, Outstanding Third Year Resident for Teaching and Role Model, University of Connecticut

Editorial and Academic Positions

Editorial Positions

2011-present, Discovery Medicine, editor
2010-present, Frontiers Genetics, editor
2009-present, American Journal of Medical Genetics
2008-present, The Clinical Respiratory Journal, editor
2008-present, Pharmacogenomics (future medicine), editor
2001-present, Frontiers in Bioscience, Managing Editor

Ad-hoc Reviewer

American Journal of Human Genetics
American Journal of Pediatrics
American Journal of Respiratory and Critical Care Medicine
American Journal of Respiratory Cell and Molecular Biology
BMC Pulmonary Medicine
British Medical Journal
Chest
European Respiratory Journal
Expert Review of Clinical Immunology
Human Molecular Genetic
Immunology Letters
Journal of Allergy and Clinical Immunology
Journal of the American Medical Association
Nature
Nature Genetics
Nature Review
New England Journal of Medicine
Pharmacogenomics
Science Magazine
Thorax

Academic and Institutional Committees

2012-present, Co-Director, Entrepreneurial Committee for The High Impact Discoveries Working Group at UPENN
2011-present, Steering Committee for BGI@CHOP Joint Genome Center
2006-present, The Molecular Profiling Facility Advisory Committee, UPENN

Leadership and Memberships

Memberships in Professional Organizations

International 

1998-present, Icelandic Sleep Society
1998-present, Icelandic Lung Association
1986-present, Medical Association of Iceland

National

2016-present, Epi25
 - 2016-present, Steering Committee
2012-present, eMERGE Network
 - 2012-present, Steering Committee
2001-present, American Society of Immunology
1994-present, American Lung Association/American Thoracic Society
1990-present, Physician's Professional Medical Association
1990-present, American Academy of Pediatrics