John J. Connolly, PhD

2024

Casillan A, Florido ME, Galarza-Cornejo J, Bakken S, Lynch JA, Chung WK, Mittendorf KF, Berner ES, Connolly JJ, Weng C, Holm IA, Khan A, Kiryluk K, Limdi NA, Petukhova L, Sabatello M, Wynn J.: Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study. J Am Med Inform Assoc. 31(2): 306-316, Jan 2024 Notes: doi: 10.1093/jamia/ocad207.

Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn N, Arias J, Belbin G, Below JE, Berndt S, Chung W, Cimino JJ, Clayton EW, Connolly JJ, Crosslin D, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth R, Ge T, Glessner JT, Gordon A, Guiducci C, Hakonarson H, Harden M, Harr M, Hirschhorn J, Hoggart C, Hsu L, Irvin R, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos R, Luo Y, Malolepsza E, Manolio T, Martin LJ, McCarthy L, Meigs JB, Mersha TB, Mosley J, Namjou B, Pai N, Pesce LL, Peters U, Peterson J, Prows CA, Puckelwartz MJ, Rehm H, Roden D, Rosenthal EA, Rowley R, Sawicki KT, Schaid D, Schmidlen T, Smit R, Smith J, Smoller JW, Thomas M, Tiwari H, Toledo D, Vaitinadin NS, Veenstra D, Walunas T, Wang Z, Wei WQ, Weng C, Wiesner G, Xianyong Y, Kenny E.: Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations. Nat Med.  30(2): 480-487, Feb 2024 Notes: doi: 10.1038/s41591-024-02796-z. Epub 2024 Feb 19.

Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E, Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM.: Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 17(1): 62, Mar 2024 Notes: doi: 10.1186/s13104-024-06723-w.

Qu HQ, Glessner JT, Qu J, Liu Y, Watson D, Chang X, Saeidian AH, Qiu H, Mentch FD, Connolly JJ, Hakonarson H.: High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations. Transl Res. doi: 10.1016/j.trsl.2023.11.004. Epub 2023 Nov 19.  (eds.). 266: 49-56, Apr 2024.

2023

Qu HQ, Kao C, Garifallou J, Wang F, Snyder J, Slater DJ, Hou C, March M, Connolly JJ, Glessner JT, Hakonarson H.: Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Freshly Isolated versus Stored Blood Samples. Genes. 14(1): 142, Jan 2023.

Glessner JT, Khan ME, Chang X, Liu Y, Otieno FG, Lemma M, Slaby I, Hain H, Mentch F, Li J, Kao C, Sleiman PMA, March ME, Connolly J, Hakonarson H.: Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders. J Neurodev Disord. 15(1): 14, Apr 2023 Notes: doi: 10.1186/s11689-023-09483-z.

Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, 17. Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei WQ, Wells QS, Weng C, Wiesner GL, Wiley K, Peterson JF.: Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med. 25(4): 100006, Apr 2023 Notes: doi: 10.1016/j.gim.2023.100006. Epub 2023 Jan 6.

Qu H, Connolly JJ, Kraft P, Long J, Pereira A, Flatley C, Turman C, Prins B, Mentch F, Lotufo PA, Magnus P, Stampfer MJ, Tamimi R, Eliassen AH, Zheng W, Knudsen GPS, Helgeland O, Butterworth AS, Hakonarson H, Sleiman PM.: Trans-ethnic Polygenic Risk Scores for Body Mass Index: An International Hundred K+ Cohorts Consortium Study. medRxiv. 13(6): e1291, Jun 2023 Notes: doi: 10.1002/ctm2.1291.

Qu HQ, Connolly JJ, Kraft P, Long J, Pereira A, Flatley C, Turman C, Prins B, Mentch F, Lotufo PA, Magnus P, Stampfer MJ, Tamimi R, Eliassen AH, Zheng W, Knudsen GPS, Helgeland O, Butterworth AS, Hakonarson H, Sleiman PM.: Trans-ethnic polygenic risk scores for body mass index: An international hundred K+ cohorts consortium study. Clin Transl Med. 13(6): e1291, Jun 2023 Notes: doi: 10.1002/ctm2.1291.

Ferar K, Hall TO, Crawford DC, Rowley R, Satterfield BA, Li R, Gragert L, Karlson EW, de Andrade M, Kullo IJ, McCarty CA, Kho A, Hayes MG, Ritchie MD, Crane PK, Mirel DB, Carlson C, Connolly JJ, Hakonarson H, Crenshaw AT, Carrell D, Luo Y, Dikilitas O, Denny JC, Jarvik GP, Crosslin DR.: Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection. Sci Rep. 13(1): 18532, Oct 2023 Notes: doi: 10.1038/s41598-023-45649-4.

Ferar K, Hall TO, Crawford DC, Rowley R, Satterfield BA, Li R, Gragert L, Karlson EW, de Andrade M, Kullo IJ, McCarty CA, Kho A, Hayes MG, Ritchie MD, Crane PK, Mirel DB, Carlson C, Connolly JJ, Hakonarson H, Crenshaw AT, Carrell D, Luo Y, Dikilitas O, Denny JC, Jarvik GP, Crosslin DR.: Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection. Sci Rep. 13(1): 19972, Nov 2023 Notes: doi: 10.1038/s41598-023-47359-3.

Linder JE, Tao R, Chung WK, Kiryluk K, Liu C, Weng C, Connolly JJ, Hakonarson H, Harr M, Leppig KA, Jarvik GP, Veenstra DL, Aufox S, Chisholm RL, Gordon AS, Hoell C, Rasmussen-Torvik LJ, Smith ME, Holm IA, Miller EM, Prows CA, Elskeally O, Kullo IJ, Lee C, Jose S, Manolio TA, Rowley R, Padi-Adjirackor NA, Wilmayani NK, City B, Wei WQ, Wiesner GL, Rahm AK, Williams JL, Williams MS, Peterson JF.: Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing. Am J Hum Genet. 110(11): 1950-1958, Nov 2023 Notes: doi: 10.1016/j.ajhg.2023.10.006. Epub 2023 Oct 25.

Sleiman PM, Qu HQ, Connolly JJ, Mentch F, Pereira A, Lotufo PA, Tollman S, Choudhury A, Ramsay M, Kato N, Ozaki K, Mitsumori R, Jeon JP, Hong CH, Son SJ, Roh HW, Lee DG, Mukadam N, Foote IF, Marshall CR, Butterworth A, Prins BP, Glessner JT, Hakonarson H.: Trans-ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study. Alzheimers Dement. 19(12): 5765-5772, Dec 2023 Notes: doi: 10.1002/alz.13378. Epub 2023 Jul 14. 

2022

Qu HQ, Snyder J, Connolly J, Glessner J, Kao C, Sleiman P, Hakonarson H.: Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries. Biomedicines. 10(2): 264, Jan 2022 Notes: doi: 10.3390/biomedicines10020264.

Qu HQ, Snyder J, Connolly J, Glessner J, Kao C, Sleiman PMA, Hakonarson H.: Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries. medRxiv. Jan 2022 Notes: doi: 10.1101/2021.05.25.21257799.

Wynn J, Milo Rasouly H, Vasquez-Loarte T, Saami AM, Weiss R, Ziniel SI, Appelbaum PS, Wright Clayton E, Christensen KD, Fasel D, Green RC, Hain HS, Harr M, Hoell C, Kullo IJ, Leppig KA, Myers MF, Pacyna JE, Perez EF, Prows CA, Kulchak Rahm A, Campbell-Salome G, Sharp RR, Smith ME, Wiesner GL, Williams JL, Blout Zawatsky CL, Gharavi AG, Chung WK, Holm IA.: Do research participants share genomic screening results with family members? J Genet Couns. 31(2): 447-458, Apr 2022 Notes: doi: 10.1002/jgc4.1511. Epub 2021 Oct 19.

Feng YA, Stanaway IB, Connolly JJ, Denny JC, Luo Y, Weng C, Wei WQ, Weiss ST, Karlson EW, Smoller JW.: Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach. BMC Genomics. 23(1): 385, May 2022 Notes: doi: 10.1186/s12864-022-08600-x.

Qu HQ, Qu J, Glessner J, Liu Y, Mentch F, Chang X, March M, Li J, Roizen JD, Connolly JJ, Sleiman P, Hakonarson H.: Improved genetic risk scoring algorithm for type 1 diabetes prediction. Pediatr Diabetes. 23(3): 320-323, May 2022 Notes: doi: 10.1111/pedi.13310. Epub 2022 Jan 19.

Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA, Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X, Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P, Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M, Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Elliott P, Walsh T, Tenesa A, Fawkes A, Murphy L, Rowan K, Ponting CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry SC, Moutsianas L, Law A, Caulfield MJ, Baillie JK.: Whole-genome sequencing reveals host factors underlying critical COVID-19. Nature. 607(7917): 97-103, Jul 2022 Notes: doi: 10.1038/s41586-022-04576-6. Epub 2022 Mar 7.

Qu HQ, Glessner J, Qu J, Gilhool S, Mentch F, Campbell I, Sleiman P, Connolly JJ, Hakonarson H.: Metabolomic profiling of samples from pediatric patients with asthma unveils deficient nutrients in African Americans. iScience. 25(7): 104650, Jul 2022 Notes: doi: 10.1016/j.isci.2022.104650. eCollection 2022 Jul 15.

Li J, Li YR, Glessner JT, Yang J, March ME, Kao C, Vaccaro CN, Bradfield JP, Mentch FD, Qu HQ, Qi X, Chang X, Hou C, Abrams DJ, Qiu H, Wei Z, Connolly JJ, Wang F, Snyder J, Flatø B, Thompson SD, Langefeld CD, Lie BA, Munro JE, Wise C, Sleiman PMA, Hakonarson H.: Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis. Arthritis Rheumatol. 74(8): 1420-1429, Aug 2022 Notes: doi: 10.1002/art.42129. Epub 2022 Jul 15.

Sherafati A, Elsekaily O, Saadatagah S, Kochan DC, Lee C, Wiesner GL, Liu C, Dellefave-Castillo L, Namjou B, Perez EF, Salvati ZM, Connolly JJ, Hakonarson H, Williams MS, Jarvik GP, Chung WK, McNally EM, Manolio TA, Kullo IJ.: Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results. Genet Med. 24(10): 2123-2133, Oct 2022 Notes: doi: 10.1016/j.gim.2022.07.007. Epub 2022 Aug 10.

Blumling AA, Prows CA, Harr MH, Chung WK, Clayton EW, Holm IA, Wiesner GL, Connolly JJ, Harley JB, Hakonarson H, McGowan ML, Miller EM, Myers MF.: Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research. J Pers Med. 12(11): 1910, Nov 2022 Notes: doi: 10.3390/jpm12111910.

Namjou B, Lape M, Malolepsza E, DeVore SB, Weirauch MT, Dikilitas O, Jarvik GP, Kiryluk K, Kullo IJ, Liu C, Luo Y, Satterfield BA, Smoller JW, Walunas TL, Connolly J, Sleiman P, Mersha TB, Mentch FD, Hakonarson H, Prows CA, Biagini JM, Khurana Hershey GK, Martin LJ, Kottyan L.: Multiancestral polygenic risk score for pediatric asthma. J Allergy Clin Immunol. 150(5): 1086-1096, Nov 2022 Notes: doi: 10.1016/j.jaci.2022.03.035. Epub 2022 May 18.

Terek S, Del Rosario MC, Hain HS, Connolly JJ, Behr MA, Harr M, Hakonarson H, Holm IA.: Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children. J Pers Med. 12(12): 1945, Nov 2022 Notes: doi: 10.3390/jpm12121945.

Qu HQ, Glessner J, Qu J, Mentch F, Campbell I, Sleiman P, Connolly JJ, Hakonarson H.: Metabolomic profiling for dyslipidemia in pediatric patients with sickle cell disease, on behalf of the IHCC consortium. Metabolomics. 18(12): 101, Dec 2022 Notes: doi: 10.1007/s11306-022-01954-z.

2021

Rosenthal EA, Crosslin DR, Gordon AS, Carrell DS, Stanaway IB, Larson EB, Grafton J, Wei WQ, Denny JC, Feng QP, Shah AS, Sturm AC, Ritchie MD, Pacheco JA, Hakonarson H, Rasmussen-Torvik LJ, Connolly JJ, Fan X, Safarova M, Kullo IJ, Jarvik GP.: Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort. BMC Med Genomics. 14(1): 11, Jan 2021 Notes: doi: 10.1186/s12920-020-00854-2.

Rasmussen LV, Connolly JJ, Del Fiol G, Freimuth RR, Pet DB, Peterson JF, Shirts BH, Starren JB, Williams MS, Walton N, Taylor CO.: Infobuttons for Genomic Medicine: Requirements and Barriers. Appl Clin Inform. 12(2): 383-390, Mar 2021 Notes: doi: 10.1055/s-0041-1729164. Epub 2021 May 12.

Tian T, Zhang J, Lin X, Wei Z, Hakonarson H.: Model-based deep embedding for constrained clustering analysis of single cell RNA-seq data. Nat Commun. 12(1): 1873, Mar 2021 Notes: doi: 10.1038/s41467-021-22008-3.

Taylor CO, Manov NF, Crew KD, Weng C, Connolly JJ, Chute CG, Ford DE, Lehmann H, Rahm AK, Kullo IJ, Caraballo PJ, Holm IA, Mathews D.: Preferences for Updates on General Research Results: A Survey of Participants in Genomic Research from Two Institutions. J Pers Med. 11(5): 399, May 2021 Notes: doi: 10.3390/jpm11050399.

Murugan M, Babb LJ, Overby Taylor C, Rasmussen LV, Freimuth RR, Venner E, Yan F, Yi V, Granite SJ, Zouk H, Aronson SJ, Power K, Fedotov A, Crosslin DR, Fasel D, Jarvik GP, Hakonarson H, Bangash H, Kullo IJ, Connolly JJ, Nestor JG, Caraballo PJ, Wei W, Wiley K, Rehm HL, Gibbs RA.: Genomic considerations for FHIR®; eMERGE implementation lessons. J Biomed Inform. 118: 103795, Jun 2021 Notes: doi: 10.1016/j.jbi.2021.103795. Epub 2021 Apr 28.

Qu HQ, Qu J, Bradfield J, Marchand L, Glessner J, Chang X, March M, Li J, Connolly JJ, Roizen JD, Sleiman P, Polychronakos C, Hakonarson H.: Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci. Commun Biol. 4(1): 908, Jul 2021 Notes: doi: 10.1038/s42003-021-02368-8.

Qu HQ, Qu J, Bradfield J, Marchand L, Glessner J, Chang X, March M, Li J, Connolly JJ, Roizen JD, Sleiman P, Polychronakos C, Hakonarson H.: Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci. Commun Biol. 4(1): 908, Jul 2021 Notes: doi: 10.1038/s42003-021-02368-8.

Qu HQ, Qu J, Bradfield J, Glessner J, Chang X, March M, Mentch FD, Roizen JD, Connolly JJ, Sleiman P, Hakonarson H.: Combined application of genetic and polygenic risk scores for type 1 diabetes risk prediction. Diabetes Obes Metab. 23(8): 2001-2003, Aug 2021 Notes: doi: 10.1111/dom.14419. Epub 2021 Jun 3.

Qu J, Qu HQ, Bradfield JP, Glessner JT, Chang X, Tian L, March M, Connolly JJ, Roizen JD, Sleiman PMA, Hakonarson H.: Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients. Sci Rep. 11(1): 16013, Aug 2021 Notes: doi: 10.1038/s41598-021-94994-9.

Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA.: Neptune: an environment for the delivery of genomic medicine. Genet Med. 23(10): 1838-1846, Oct 2021 Notes: doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. 

2020

Li YR, Glessner JT, Coe BP, Li J, Mohebnasab M, Chang X, Connolly J, Kao C, Wei Z, Bradfield J, Kim C, Hou C, Khan M, Mentch F, Qiu H, Bakay M, Cardinale C, Lemma M, Abrams D, Bridglall-Jhingoor A, Behr M, Harrison S, Otieno G, Thomas A, Wang F, Chiavacci R, Wu L, Hadley D, Goldmuntz E, Elia J, Maris J, Grundmeier R, Devoto M, Keating B, March M, Pellagrino R, Grant SFA, Sleiman PMA, Li M, Eichler EE, Hakonarson H.: Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. Nat Commun. 11(1): 255, Jan 2020 Notes: doi: 10.1038/s41467-019-13624-1.

Robinson JR, Carroll RJ, Bastarache L, Chen Q, Mou Z, Wei WQ, Connolly JJ, Mentch F, Sleiman P, Crane PK, Hebbring SJ, Stanaway IB, Crosslin DR, Gordon AS, Rosenthal EA, Carrell D, Hayes MG, Wei W, Petukhova L, Namjou B, Zhang G, Safarova MS, Walton NA, Still C, Bottinger EP, Loos RJF, Murphy SN, Jackson GP, Kullo IJ, Hakonarson H, Jarvik GP, Larson EB, Weng C, Roden DM, Denny JC.: Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization. World J Surg. 44(1): 84-94, Jan 2020 Notes: doi: 10.1007/s00268-019-05202-9.

Hoell C, Wynn J, Rasmussen LV, Marsolo K, Aufox SA, Chung WK, Connolly JJ, Freimuth RR, Kochan D, Hakonarson H, Harr M, Holm IA, Kullo IJ, Lammers PE, Leppig KA, Leslie ND, Myers MF, Sharp RR, Smith ME, Prows CA.: Participant choices for return of genomic results in the eMERGE Network. Genet Med. 22(11): 1821-1829, Nov 2020 Notes: doi: 10.1038/s41436-020-0905-3. Epub 2020 Jul 16. 

2019

Mercaldo ND, Brothers KB, Carrell DS, Clayton EW, Connolly JJ, Holm IA, Horowitz CR, Jarvik GP, Kitchner TE, Li R, McCarty CA, McCormick JB, McManus VD, Myers MF, Pankratz JJ, Shrubsole MJ, Smith ME, Stallings SC, Williams JL, Schildcrout JS.: Enrichment sampling for a multi-site patient survey using electronic health records and census data. J Am Med Inform Assoc. 26(3): 219-227, Mar 2019 Notes: doi: 10.1093/jamia/ocy164.

Cordero P, Parikh VN, Chin ET, Erbilgin A, Gloudemans MJ, Shang C, Huang Y, Chang AC, Smith KS, Dewey F, Zaleta K, Morley M, Brandimarto J, Glazer N, Waggott D, Pavlovic A, Zhao M, Moravec CS, Tang WHW, Skreen J, Malloy C, Hannenhalli S, Li H, Ritter S, Li M, Bernstein D, Connolly A, Hakonarson H, Lusis AJ, Margulies KB, Depaoli-Roach AA, Montgomery SB, Wheeler MT, Cappola T, Ashley EA.: Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure. Nat Commun. 10(1): 2760, Jun 2019 Notes: doi: 10.1038/s41467-019-10591-5.

Namjou B, Lingren T, Huang Y, Parameswaran S, Cobb BL, Stanaway IB, Connolly JJ, Mentch FD, Benoit B, Niu X, Wei WQ, Carroll RJ, Pacheco JA, Harley ITW, Divanovic S, Carrell DS, Larson EB, Carey DJ, Verma S, Ritchie MD, Gharavi AG, Murphy S, Williams MS, Crosslin DR, Jarvik GP, Kullo IJ, Hakonarson H, Li R, Xanthakos SA, Harley JB.: GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network. BMC Med. 17(1): 135, Jul 2019 Notes: doi: 10.1186/s12916-019-1364-z.

Almoguera B, McGinnis E, Abrams D, Vazquez L, Cederquist A, Sleiman PM, Dlugos D, Hakonarson H.: Drug-resistant epilepsy classified by a phenotyping algorithm associates with NTRK2. Acta Neurol Scand. 140(3): 169-176, Sept 2019 Notes: doi: 10.1111/ane.13115. Epub 2019 Jun 20.

Chiang T, Liu X, Wu TJ, Hu J, Sedlazeck FJ, White S, Schaid D, Andrade M, Jarvik GP, Crosslin D, Stanaway I, Carrell DS, Connolly JJ, Hakonarson H, Groopman EE, Gharavi AG, Fedotov A, Bi W, Leduc MS, Murdock DR, Jiang Y, Meng L, Eng CM, Wen S, Yang Y, Muzny DM, Boerwinkle E, Salerno W, Venner E, Gibbs RA.: Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 21(9): 2135-2144, Sept 2019 Notes: doi: 10.1038/s41436-019-0475-4. Epub 2019 Mar 20.

Glessner JT, Li J, Desai A, Palmer M, Kim D, Lucas AM, Chang X, Connolly JJ, Almoguera B, Harley JB, Jarvik GP, Ritchie MD, Sleiman PMA, Roden DM, Crosslin D, Hakonarson H.: CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease. Int J Cardiol. 298: 107-113, Jan 2020 Notes: doi: 10.1016/j.ijcard.2019.07.058. Epub 2019 Jul 19.

2018

Fossey R, Kochan D, Winkler E, Pacyna JE, Olson J, Thibodeau S, Connolly JJ, Harr M, Behr MA, Prows CA, Cobb B, Myers MF, Leslie ND, Namjou-Khales B, Milo Rasouly H, Wynn J, Fedotov A, Chung WK, Gharavi A, Williams JL, Pais L, Holm I, Aufox S, Smith ME, Scrol A, Leppig K, Jarvik GP, Wiesner GL, Li R, Stroud M, Smoller JW, Sharp RR, Kullo IJ.: Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. J Pers Med. 8(1): 2, Jan 2018 Notes: doi: 10.3390/jpm8010002.

Williams JL, Chung WK, Fedotov A, Kiryluk K, Weng C, Connolly JJ, Harr M, Hakonarson H, Leppig KA, Larson EB, Jarvik GP, Veenstra DL, Hoell C, Smith ME, Holm IA, Peterson JF, Williams MS.: Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare (Basel). 6(3): 83, Jul 2018 Notes: doi: 10.3390/healthcare6030083.

Sood N, Connolly JJ, Mentch FD, Vazquez L, Sleiman PMA, Hysinger EB, Hakonarson H.: Leveraging electronic health records to assess the role of ADRB2 single nucleotide polymorphisms in predicting exacerbation frequency in asthma patients. Pharmacogenet Genomics. 28(11): 256-259, Nov 2018 Notes: doi: 10.1097/FPC.0000000000000355.

2017

Almoguera B, Vazquez L, Mentch F, Connolly J, Pacheco JA, Sundaresan AS, Peissig PL, Linneman JG, McCarty CA, Crosslin D, Carrell DS, Lingren T, Namjou-Khales B, Harley JB, Larson E, Jarvik GP, Brilliant M, Williams MS, Kullo IJ, Hysinger EB, Sleiman PM, Hakonarson H.: Identification of Four Novel Loci in Asthma in European American and African American Populations. Am J Respir Crit Care Med. 195(4): 456-463, Feb 2017 Notes: doi: 10.1164/rccm.201604-0861OC.

Li D, Chang X, Connolly JJ, Tian L, Liu Y, Bhoj EJ, Robinson N, Abrams D, Li YR, Bradfield JP, Kim CE, Li J, Wang F, Snyder J, Lemma M, Hou C, Wei Z, Guo Y, Qiu H, Mentch FD, Thomas KA, Chiavacci RM, Cone R, Li B, Sleiman PA, Hakonarson H.: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling. Sci Rep. 7(1): 3847, Jun 2017 Notes: doi: 10.1038/s41598-017-01674-8.

Rohrer Vitek CR, Abul-Husn NS, Connolly JJ, Hartzler AL, Kitchner T, Peterson JF, Rasmussen LV, Smith ME, Stallings S, Williams MS, Wolf WA, Prows CA.: Healthcare provider education to support integration of pharmacogenomics in practice: the eMERGE Network experience. Pharmacogenomics. 18(10): 1013-1025, Jul 2017 Notes: doi: 10.2217/pgs-2017-0038. Epub 2017 Jun 22.

Li D, Chang X, Connolly JJ, Tian L, Liu Y, Bhoj EJ, Robinson N, Abrams D, Li YR, Bradfield JP, Kim CE, Li J, Wang F, Snyder J, Lemma M, Hou C, Wei Z, Guo Y, Qiu H, Mentch FD, Thomas KA, Chiavacci RM, Cone R, Li B, Sleiman PA, Hakonarson H.: Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling. Sci Rep. 7(1): 8379, Aug 2017 Notes: doi: 10.1038/s41598-017-06409-3.

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. 315(1): 47-57, Jan 2016 Notes: doi: 10.1001/jama.2015.17701.

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. 11(7): e0159621, Jul 2016 Notes: doi: 10.1371/journal.pone.0159621. eCollection

Bush WS, Crosslin DR, Owusu-Obeng A, 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 PGRNseq data from the eMERGE network. Clin Pharmacol Ther. 100(2): 160-169, Aug 2016 Notes: doi: 10.1002/cpt.350. Epub 2016 Jun 1.

Rasmussen LV, Overby CL, Connolly J, Chute CG, Denny JC, Freimuth R, Hartzler AL, Holm IA, Manzi S, Pathak J, Peissig PL, Smith M, Williams MS, Shirts BH, Stoffel EM, Tarczy-Hornoch P, Rohrer Vitek CR, Wolf WA, Starren J.: Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER. Appl Clin Inform. 7(3): 870-882, Sept 2016 Notes: doi: 10.4338/ACI-2016-04-RA-0060.

Smith ME, Sanderson SC, Brothers KB, Myers MF, McCormick J, Aufox S, Shrubsole MJ, Garrison NA, Mercaldo ND, Schildcrout JS, Clayton EW, Antommaria AH, Basford M, Brilliant M, Connolly JJ, Fullerton SM, Horowitz CR, Jarvik GP, Kaufman D, Kitchner T, Li R, Ludman EJ, McCarty C, McManus V, Stallings S, Williams JL, Holm IA.: Conducting a large, multi-site survey about patients' views on broad consent: challenges and solutions. BMC Med Res Methodol. 16(1): 162, Nov 2016 Notes: doi: 10.1186/s12874-016-0263-7.

2015

Hall MA, Verma SS, Wallace J, Lucas A, Berg RL, Connolly J, Crawford DC, Crosslin DR, de Andrade M, Doheny KF, Haines JL, Harley JB, Jarvik GP, Kitchner T, Kuivaniemi H, Larson EB, Carrell DS, Tromp G, Vrabec TR, Pendergrass SA, McCarty CA, Ritchie MD.: Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network. Genet Epidemiol. 39(5): 376-384, Jul 2015 Notes: doi: 10.1002/gepi.21902. Epub 2015 May 17.

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. 21(9): 1018-1027, Sept 2015 Notes: doi: 10.1038/nm.3933. Epub 2015 Aug 24.

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 SFA, Sleiman PMA, 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. 6: 8442, Oct 2015 Notes: doi: 10.1038/ncomms9442.

Brothers KB, Holm IA, Childerhose JE, Antommaria AHM, Bernhardt BA, Clayton EW, Gelb BD, Joffe S, Lynch JA, McCormick JB, McCullough LB, Parsons DW, Sundaresan AS, Wolf WA, Yu JH, Wilfond BS.: When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. J Pediatr. 168: 226-231, Jan 2016 Notes: doi: 10.1016/j.jpeds.2015.09.020. Epub 2015 Oct 23.

Satterthwaite TD, Connolly JJ, Ruparel K, Calkins ME, Jackson C, Elliott MA, Roalf DR, Hopson R, Prabhakaran K, Behr M, Qiu H, Mentch FD, Chiavacci R, Sleiman PMA, 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. 124: 1115-1119, Jan 2016 Notes: doi: 10.1016/j.neuroimage.2015.03.056. Epub 2015 Mar 31.

2014

Kullo IJ, Haddad R, Prows CA, Holm I, Sanderson SC, Garrison NA, Sharp RR, Smith ME, Kuivaniemi H, Bottinger EP, Connolly JJ, Keating BJ, McCarty CA, Williams MS, Jarvik GP.: Return of results in the genomic medicine projects of the eMERGE network. Front Genet. 5: 50, Mar 2014 Notes: doi: 10.3389/fgene.2014.00050. eCollection 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. 5: 105, April 2014 Notes: doi: 10.3389/fgene.2014.00105. eCollection 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. 5: 96, May 2014 Notes: 10.3389/fgene.2014.00096. eCollection 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, Glessner J, Hakonarson H.: The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism. Nat Commun. 5: 4074, Jun 2014 Notes: doi: 10.1038/ncomms5074.

Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA, Burke W.: Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet. 94(6): 818-826, Jun 2014 Notes: doi: 10.1016/j.ajhg.2014.04.009. Epub 2014 May 8.

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. 13(3): 295-305, Oct 2014 Notes: doi: 10.1002/wps.20152.

Rasmussen-Torvik LJ, Stallings SC, Gordon AS, Almoguera B, Basford MA, Bielinski SJ, Brautbar A, Brilliant MH, Carrell DS, Connolly JJ, Crosslin DR, Doheny KF, Gallego CJ, Gottesman O, Kim DS, Leppig KA, Li R, Lin S, Manzi S, Mejia AR, Pacheco JA, Pan V, Pathak J, Perry CL, Peterson JF, Prows CA, Ralston J, Rasmussen LV, Ritchie MD, Sadhasivam S, Scott SA, Smith M, Vega A, Vinks AA, Volpi S, Wolf WA, Bottinger E, Chisholm RL, Chute CG, Haines JL, Harley JB, Keating B, Holm IA, Kullo IJ, Jarvik GP, Larson EB, Manolio T, McCarty CA, Nickerson DA, Scherer SE, Williams MS, Roden DM, Denny JC.: Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. Clin Pharmacol Ther. 96(4): 482-9, Oct 2014 Notes: doi: 10.1038/clpt.2014.137. Epub 2014 Jun 24.

Brothers KB, Lynch JA, Aufox SA, Connolly JJ, Gelb BD, Holm IA, Sanderson SC, McCormick JB, Williams JL, Wolf WA, Antommaria AH, Clayton EW.: Practical guidance on informed consent for pediatric participants in a biorepository. Mayo Clin Proc. 89(11): 1471-1480, Nov 2014 Notes: doi: 10.1016/j.mayocp.2014.07.006. Epub 2014 Sep 26.

Overby CL, Rasmussen LV, Hartzler A, Connolly JJ, Peterson JF, Hedberg RE, Freimuth RR, Shirts BH, Denny JC, Larson EB, Chute CG, Jarvik GP, Ralston JD, Shuldiner AR, Starren J, Kullo IJ, Tarczy-Hornoch P, Williams MS.: A Template for Authoring and Adapting Genomic Medicine Content in the eMERGE Infobutton Project. AMIA Annu Symp Proc. Page: 944-953, Nov 2014.

Glessner JT, Connolly JJ, Hakonarson H.: Genome-Wide Association Studies of Autism. Curr Behav Neurosci Rep. 1: 234-241, 2014.

2013

Glessner JT, Smith AV, Panossian S, Kim CE, Takahashi N, Thomas KA, Wang F, Seidler K, Harris TB, Launer LJ, Keating B, Connolly J, Sleiman PM, Buxbaum JD, Grant SF, Gudnason V, Hakonarson H.: Copy number variations in alternative splicing gene networks impact lifespan. PLoS One. 8(1): e53846, Jan 2013 Notes: doi: 10.1371/journal.pone.0053846. Epub 2013 Jan 30.

2012

Gur RC, Richard J, Calkins ME, Chiavacci R, Hansen JA, Bilker WB, Loughead J, Connolly JJ, Qiu H, Mentch FD, Abou-Sleiman PM, Hakonarson H, Gur RE.: Age group and sex differences in performance on a computerized neurocognitive battery in children age 8-21. Neuropsychology. 26(2): 251-265, Mar 2012 Notes: doi: 10.1037/a0026712. Epub 2012 Jan 16.

Swerdlow DI, Holmes MV, Kuchenbaecker KB, Engmann JE, Shah T, Sofat R, Guo Y, Chung C, Peasey A, Pfister R, Mooijaart SP, Ireland HA, Leusink M, Langenberg C, Li KW, Palmen J, Howard P, Cooper JA, Drenos F, Hardy J, Nalls MA, Li YR, Lowe G, Stewart M, Bielinski SJ, Peto J, Timpson NJ, Gallacher J, Dunlop M, Houlston R, Tomlinson I, Tzoulaki I, Luan J, Boer JM, Forouhi NG, Onland-Moret NC, van der Schouw YT, Schnabel RB, Hubacek JA, Kubinova R, Baceviciene M, Tamosiunas A, Pajak A, Topor-Madry R, Malyutina S, Baldassarre D, Sennblad B, Tremoli E, de Faire U, Ferrucci L, Bandenelli S, Tanaka T, Meschia JF, Singleton A, Navis G, Mateo Leach I, Bakker SJ, Gansevoort RT, Ford I, Epstein SE, Burnett MS, Devaney JM, Jukema JW, Westendorp RG, Jan de Borst G, van der Graaf Y, de Jong PA, Mailand-van der Zee AH, Klungel OH, de Boer A, Doevendans PA, Stephens JW, Eaton CB, Robinson JG, Manson JE, Fowkes FG, Frayling TM, Price JF, Whincup PH, Morris RW, Lawlor DA, Smith GD, Ben-Shlomo Y, Redline S, Lange LA, Kumari M, Wareham NJ, Verschuren WM, Benjamin EJ, Whittaker JC, Hamsten A, Dudbridge F, Delaney JA, Wong A, Kuh D, Hardy R, Castillo BA, Connolly JJ, van der Harst P, Brunner EJ, Marmot MG, Wassel CL, Humphries SE, Talmud PJ, Kivimaki M, Asselbergs FW, Voevoda M, Bobak M, Pikhart H, Wilson JG, Hakonarson H, Reiner AP, Keating BJ, Sattar N, Hingorani AD, Casas JP.: The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet. 379(9822): 1214-24, Mar 2012 Notes: doi: 10.1016/S0140-6736(12)60110-X. Epub 2012 Mar 14.

Connolly JJ, Glessner JT, Hakonarson H.: A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale. Child Dev. 84(1): 17-33, Jan-Feb 2013 Notes: doi: 10.1111/j.1467-8624.2012.01838.x. Epub 2012 Aug 30.

2011

Elia J, Glessner JT, Wang K, Takahashi N, Shtir CJ, Hadley D, Sleiman PM, Zhang H, Kim CE, Robison R, Lyon GJ, Flory JH, Bradfield JP, Imielinski M, Hou C, Frackelton EC, Chiavacci RM, Sakurai T, Rabin C, Middleton FA, Thomas KA, Garris M, Mentch F, Freitag CM, Steinhausen HC, Todorov AA, Reif A, Rothenberger A, Franke B, Mick EO, Roeyers H, Buitelaar J, Lesch KP, Banaschewski T, Ebstein RP, Mulas F, Oades RD, Sergeant J, Sonuga-Barke E, Renner TJ, Romanos M, Romanos J, Warnke A, Walitza S, Meyer J, Pálmason H, Seitz C, Loo SK, Smalley SL, Biederman J, Kent L, Asherson P, Anney RJ, Gaynor JW, Shaw P, Devoto M, White PS, Grant SF, Buxbaum JD, Rapoport JL, Williams NM, Nelson SF, Faraone SV, Hakonarson H.: Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet. 44(1): 78-84, Dec 2011.

2021

Khan SS, Hoell C, Castillo LM, Connolly JJ, Crosslin DR, Chung WK, Gordon AS, Harr M, Jarvik GP, Kullo I, Larson EB, Leppig KA, Manolio T, Pacheco JA, Ralston JD, Puckelwartz MJ, Smith ME, Wells Q, McNally EM, Rasmussen-Torvik LJ.: Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network. Circ Heart Fail. 14(5): e008155, May 2021 Notes: doi: 10.1161/CIRCHEARTFAILURE.120.008155. Epub 2021 May 6.

Van Driest SL, Abul-Husn NS, Glessner JT, Bastarache L, Nirenberg S, Schildcrout JS, Eswarappa MS, Belbin GM, Shaffer CM, Mentch F, Connolly J, Shi M, Stein CM, Roden DM, Hakonarson H, Cox NJ, Borinstein SC, Mosley JD.: Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients. JAMA Intern Med. 181(8): 1100-1105, Aug 2021 Notes: doi: 10.1001/jamainternmed.2021.3108. 

2018

Almoguera B, Vazquez L, Mentch F, March ME, Connolly JJ, Peissig PL, Linneman JG, Plaza-Serón MDC, Pino-Yanes M, Burchard EG, Brilliant M, Sleiman P, Hakonarson H.: Novel locus for atopic dermatitis in African Americans and replication in European Americans. J Allergy Clin Immunol. 143(3): 1229-1231, Mar 2019 Notes: doi: 10.1016/j.jaci.2018.10.038. Epub 2018 Nov 9.

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. 17: 80, Feb 2016 Notes: doi: 10.1186/s12891-016-0936-8.

Hysinger EB, Roizen JD, Mentch FD, Vazquez L, Connolly JJ, Bradfield JP, Almoguera B, Sleiman PM, Allen JL, Levine MA, Hakonarson H.: Mendelian randomization analysis demonstrates that low vitamin D is unlikely causative for pediatric asthma. J Allergy Clin Immunol. 138(6): 1747-1749, Dec 2016 Notes: doi: 10.1016/j.jaci.2016.06.056. Epub 2016 Aug 20.

2013

Connolly JJ, Hakonarson H.: Autism Spectrum Disorders. Insights from Genomics. 2013 Notes: In: Fitzgerald M, editor. Recent Advances in Autism Spectrum Disorders - Volume I Rijeka, Croatia: Intech; Chapter 13; p.24. 791p 

2011

Connolly JJ, Hakonarson H.: The Genetics of Autism Spectrum Disorders. Autism Spectrum Disorders. 2011 Notes: In: Deutsch SI, Urbano MR, editors. The Role of Genetics in Diagnosis and Treatment Rijeka, Croatia: Intech; Chapter 4; p.51-64. 198p