Dong Li, PhD

Papers

2022

Li D#, Downes, H, Hou, C, Hakonarson, H, Zackai, EH, Schrier Vergano, SA, and Bhoj, EJ: Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients. Am J Med Genet A 2022.

Chowers G, Abebe-Campino G, Golan H, Vivante A, Greenberger S, Soudack M, Barkai G, Fox-Fisher I, Li D, March M, Battig MR, Hakonarson H, Adams D, Dori Y, Dagan A: Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition. Pediatr Res 2022.

Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL: Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med  2022.

Guo R, Mentch FD, Li D, Will EE, Ahrens-Nicklas RC, Bhoj EJ: Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort. J Pediatr  2022.

Hawkes CP, Al Jubeh JM, Li D, Tucker SE, Rajiyah T, Levine MA: Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism. J Clin Endocrinol Metab  2022.

Li D#, March ME, Wang T, Merengwa V, Sertori Finoti L, Schrier Vergano SA, Hakonarson H, Bhoj EJ: Exome and RNA-Seq analyses of an incomplete penetrance variant in USP9X in female-specific syndromic intellectual disability. Am J Med Genet A 2022.

Li D#, Strong A, Hou C, Downes H, Pritchard AB, Mazzeo P, Zackai EH, Conlin LK, Hakonarson H: Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism. Mol Cytogenet  2022.

Liu M, Smith CL, Biko DM, Li D, Pinto E, O'Connor N, Skraban C, Zackai EH, Hakonarson H, Dori Y, Sheppard SE: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. Eur J Hum Genet  2022.

London S, Levine MA, Li D, Spiegel R, Lebel A, Halevy R, Tenenbaum-Rakover Y: Hypocalcemia as the Initial Presentation of Type 2 Bartter Syndrome: A Family Report. J Clin Endocrinol Metab 2022.

Lubin E, Bryant L, Aicher J, Li D, Bhoj E: Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0. Hum Genet  2022.

Mullins N, Kang J, Campos AI, Coleman JRI, Edwards AC, Galfalvy H, ... Li D et al: Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors. Biol Psychiatry  2022.

Qi C, Feng I, Costa AR, Pinto-Costa R, Neil JE, Caluseriu O, Li D, Ganetzky RD, Brasch-Andersen C, Fagerberg C, Hansen LK, Bupp C, Muraresku CC, Ruan X, Kang B, Hu K, Zhong R, Brites P, Bhoj EJ, Hill RS, Falk MJ, Hakonarson H, Kahle KT, Sousa MM, Walsh CA, Zhang X: Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. Genet Med  2022.

Ritter AL, Gold J, Hayashi H, Ackermann AM, Hanke S, Skraban C, Cuddapah S, Bhoj E, Li D, Kuroda Y, Wen J, Takeda R, Bibb A, El Chehadeh S, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi T, Bhatti T, Russo P, Krock B, Murrell JR, Sullivan JA, Shashi V, Stong N, Hakonarson H, Sawano K, Torti E, Willaert R, Si Y, Wilcox WR, Wirgenes KV, Thomassen K, Carlotti K, Erwin A, Lazier J, Marquardt T, He M, Edmondson AC, Izumi K: Expanding the phenotypic spectrum of ARCN1-related syndrome. Genet Med  2022.

Sobering AK, Bryant LM, Li D, McGaughran J, Maystadt I, Moortgat S, Graham JM, Jr., van Haeringen A, Ruivenkamp C, Cuperus R, Vogt J, Morton J, Brasch-Andersen C, Steenhof M, Hansen LK, Adler E, Lyonnet S, Pingault V, Sandrine M, Ziegler A, Donald T, Nelson B, Holt B, Petryna O, Firth H, McWalter K, Zyskind J, Telegrafi A, Juusola J, Person R, Bamshad MJ, Earl D, University of Washington Center for Mendelian G, Tsai AC, Yearwood KR, Marco E, Nowak C, Douglas J, Hakonarson H, Bhoj EJ: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology. HGG Adv  2022.

Verdi G, Li D, Elsea SH, Nelson B, Bhoj EJ, Hakonarson H, Yearwood KR, Upadhya S, Gluschitz S, Smith JL, Sobering AK: A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay. Mol Genet Genomic Med 2022.

2021

Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogne B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK. : ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.  J Inherit Metab Dis  44(4): 1001-1012, Jul 2021.

Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, ... Li D et al: Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.  Am J Med Genet A 2021 185(11): 3446-3458, Nov 2021.

Danzig J, Li D, Jan de Beur S, Levine MA: High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects. J Clin Endocrinol Metab  2021.

Gong NN, Dilley LC, Williams CE, Moscato EH, Szuperak M, Wang Q, Jensen M, Girirajan S, Tan TY, Deardorff MA, Li D, Song Y, Kayser MS. : The chromatin remodeler ISWI acts during Drosophila development to regulate adult sleep.  Sci Adv  7(8), 2021.

Li D, March ME, Fortugno P, Cox LL, Matsuoka LS, Monetta R, Seiler C, Pyle LC, Bedoukian EC, Sanchez-Soler MJ, Caluseriu O, Grand K, Tam A, Aycinena ARP, Camerota L, Guo Y, Sleiman P, Callewaert B, Kumps C, Dheedene A, Buckley M, Kirk EP, Turner A, Kamien B, Patel C, Wilson M, Roscioli T, Christodoulou J, Cox TC, Zackai EH, Brancati F, Hakonarson H, Bhoj EJ. : Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.  Hum Genet  140(7): 1061-1076, 2021.

Li D, Sheppard SE, Peroutka C, Barnes C, Reid JR, Smith CL, Dori Y, Hakonarson H. : Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1.  Clin Genet  99(5): 742-43, 2021.

Li D, Strong A, Shen KM, Cassiman D, Van Dyck M, Linhares ND, Valadares ER, Wang T, Pena SDJ, Jaeken J, Vergano S, Zackai E, Hing A, Chow P, Ganguly A, Scholz T, Bierhals T, Philipp D, Hakonarson H, Bhoj E. : De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.  Genet Med  23(4): 637-44, 2021.

Li D, Wang Q, Gong NN, Kurolap A, Baris Feldman H, Boy N, Brugger M, Grand K, McWalter K, Guillen Sacoto MJ, Wakeling E, Hurst J, March ME, Bhoj EJ, Nowaczyk MJM, Gonzaga-Jauregui C, Mathew M, Dava-Wala A, Siemon A, Bartholomew D, Huang Y, Lee H, Martinez JA, Schwaibold EMC, Brunet T, Choukair D, Pais LS, White SM, Christodoulou J, Brown D, Lindstrom K, Grebe T, Tiosano D, Kayser MS, Tan TY, Deardorff MA, Song Y, Hakonarson H.: Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental disorder.  Sci Adv  7(20), 2021.

Nair D, Li D, Erdogan H, Yoon A, Harr MH, Bergant G, Peterlin B, Skrjanec Pusenjak M, Jayakar P, Pfundt R, Jansen S, McWalter K, Sidhu A, Saliganan S, Agolini E, Jacob A, Pasquier J, Arash R, Kahrizi K, Najmabadi H, Ropers HH, Bhoj EJ: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3. HGG Adv  2021.

Polla DL, Bhoj EJ, Verheij J, Wassink-Ruiter JSK, Reis A, Deshpande C, Gregor A, Hill-Karfe K, Silfhout ATV, Pfundt R, Bongers E, Hakonarson H, Berland S, Gradek G, Banka S, Chandler K, Gompertz L, Huffels SC, Stumpel C, Wennekes R, Stegmann APA, Reardon W, Leenders E, de Vries BBA, Li D, Zackai E, Ragge N, Lynch SA, Cuddapah S, van Bokhoven H, Zweier C, de Brouwer APM. : De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.   Genet Med 23(4): 645-52, 2021.

Royer-Bertrand B, Jequier Gygax M, Cisarova K, Rosenfeld JA, Bassetti JA, Moldovan O, O'Heir E, Burrage LC, Allen J, Emrick LT, Eastman E, Kumps C, Abbas S, Van Winckel G, Undiagnosed Diseases N, Chabane N, Zackai EH, Lebon S, Keena B, Bhoj EJ, Umair M, Li D, Donald KA, Superti-Furga A: De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. Mol Autism 2021.

Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, et al: Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.  Am J Med Genet A  185(6): 1649-1665, 2021.

Strong A*, Li D*, Mentch F, Hakonarson H. : A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease.   Am J Med Genet A 185(4): 1266-69, 2021.

Wenger TL, Perkins J, Parish-Morris J, Hing AV, Chen ML, Cielo CM, Li D, Bhoj EJ, Hakonarson H, Zackai E, McDonald-McGinn DM, Taylor JA, Jackson O, Sie K, Bly R, Dahl J, Evans KN.   : Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence. Am J Med Genet A 185(12): 3694-3700, Dec 2021.

White SM, Bhoj E, Nellaker C, Lachmeijer AMA, Marshall AE, Boycott KM, Li D, Smith W, Hartley T, McBride A, Ernst ME, May AS, Wieczorek D, Abou Jamra R, Koch-Hogrebe M, Ounap K, Pajusalu S, van Gassen KLI, Sadedin S, Ellingwood S, Tan TY, Christodoulou J, Barea J, Lockhart PJ, Care4Rare Canada C, Nezarati MM, Kernohan KD. : A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.   Am J Hum Genet 108(4): 749-56, 2021.

Traub ES, Sheppard SE, Dori Y, Burns KD, Zackai EH, Ware SM, Landis BJ, Li D, Weaver DD. : Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features.   Clin Dysmorphol 30(2): 89-92, Apr 2021.

Strong A, Li D, Mentch F, Bedoukian E, Hartung EA, Meyers K, Skraban C, Wen J, Medne L, Glessner J, Watson D, Krantz I, Hakonarson H. : Ciliopathies: Coloring outside of the lines. Am J Med Genet A  185(3): 687-94, 2021.

Strong A, O'Grady G, Shih E, Bishop JR, Loomes K, Diamond T, Hartung EA, Wong W, Cuddapah S, Cahill AM, Hou C, Slater D, Vaccaro C, Watson D, Li D, Hakonarson H.  : A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.  Am J Med Genet A 185(7): 2168-74, 2021.

2020

Munn-Chernoff MA, Johnson EC, Chou YL, Coleman JRI, Thornton LM, Walters RK, ... Li D et al: Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.   Addict Biol 26(1): e12880, Jan 2020.

Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmuller J, et al: A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.   Eur J Hum Genet 28(10): 1422-31, 2020.

Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, ... Li D et al: Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.   Genet Med 22(8): 1338-47, 2020.

Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ. : Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.   Hum Mol Genet 29(11): 1900-21, 2020.

Blackburn PR, Schultz MJ, Lahner CA, Li D, Bhoj E, Fisher LJ, Renaud DL, Kenney A, Ibrahim N, Hashem M, Zain Seidahmed M, Hasadsri L, Schrier Vergano SA, Alkuraya FS, Lanpher BC. : Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.   Ann Clin Transl Neurol 7(6): 1013-28, 2020.

Bryant L*, Li D*, Cox SG, Marchione D, Joiner EF, Wilson K, et al: Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv 6(49), 2020.

Espiard S, Drougat L, Settas N, Haydar S, Bathon K, London E, Levy I, Faucz FR, Calebiro D, Bertherat J, Li D, Levine MA, Stratakis CA. : PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A.   Endocr Relat Cancer 27(11): 647-56, 2020.

Foster JB, Li D, March ME, Sheppard SE, Adams DM, Hakonarson H, Dori Y. : Kaposiform lymphangiomatosis effectively treated with MEK inhibition.   EMBO Mol Med Page: e12324, 2020.

Gold NB, Li D, Chassevent A, Kaiser FJ, Parenti I, Strom TM, Ramos FJ, Puisac B, Pie J, McWalter K, Guillen Sacoto MJ, Cui H, Saadeh-Haddad R, Smith-Hicks C, Rodan L, Blair E, Bhoj E. : Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.   Clin Genet 98(6): 571-76, 2020.

Gordon RJ, Li D, Doyle D, Zaritsky J, Levine MA. : Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.  J Clin Endocrinol Metab  105(7), 2020.

Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, ... Li D et al: Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling.   Biol Psychiatry 87(2): 100-12, 2020.

Li D, Ahrens-Nicklas RC, Baker J, Bhambhani V, Calhoun A, Cohen JS, Deardorff MA, Fernandez-Jaen A, Kamien B, Jain M, McKenzie F, Mintz M, Motter C, Niles K, Ritter A, Rogers C, Roifman M, Townshend S, Ward-Melver C, Schrier Vergano SA. : The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?  Am J Med Genet A  182(9): 2058-67, 2020.

Li D, Bupp C, March ME, Hakonarson H, Levine MA. : Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B.    J Clin Endocrinol Metab 105(9), 2020.

Li D, Shen KM, Zackai EH, Bhoj EJ.   : Clinical variability of TUBB-associated disorders: Diagnosis through reanalysis. Am J Med Genet A 182(12): 3035-39, 2020.

Liu Y, Chang X, Qu H, Glessner J, Tian L, Li D, Qiu H, Sleiman PMA, Hakonarson H. : Non-coding structural variation differentially impacts attention-deficit hyperactivity disorder (ADHD) gene networks in African American vs Caucasian children.  Sci Rep 10(1): 15252, 2020.

So J, Ningappa M, Glessner J, Min J, Ashokkumar C, Ranganathan S, Higgs BW, Li D, Sun Q, Schmitt L, Biery AC, Dobrowolski S, Trautz C, Fuhrman L, Schwartz MC, Klena NT, Fusco J, Prasadan K, Adenuga M, Mohamed N, Yan Q, Chen W, Horne W, Dhawan A, Sharif K, Kelly D, Squires RH, Gittes GK, Hakonarson H, Morell V, Lo C, Subramaniam S, Shin D, Sindhi R. : Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality.   Front Physiol 11: 538701, 2020.

Sobering AK*, Li D*, Beighley JS, Carey JC, Donald T, Elsea SH, Figueroa KP, Gerdts J, Hamlet A, Mirzaa GM, Nelson B, Pulst SM, Smith JL, Tassone F, Toriello HV, Walker RH, Yearwood KR, Bhoj EJ. : Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.  Am J Med Genet C Semin Med Genet  2020.

Vissers L, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, ... Li D et al: De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.   Am J Hum Genet 107(1): 164-72, 2020.

Wenger TL, Bly RA, Wu N, Albert CM, Park J, Shieh J, Chenbhanich J, Heike CL, Adam MP, Chang I, Sun A, Miller DE, Beck AE, Gupta D, Boos MD, Zackai EH, Everman D, Ganapathi S, Wilson M, Christodoulou J, Zarate YA, Curry C, Li D, Guimier A, Amiel J, Hakonarson H, Webster R, Bhoj EJ, Perkins JA, Dahl JP, Dobyns WB. : Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.  Am J Med Genet A 182(7): 1576-91, 2020.

2019

Watson HJ, Yilmaz Z, Thornton LM, Hubel C, Coleman JRI, Gaspar HA, ... Li D et al: Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.   Nat Genet 51(8): 1207-14, 2019.

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, ... Li D et al: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med  21(4): 850-60, 2019.

Bend EG, Aref-Eshghi E, Everman DB, Rogers RC, Cathey SS, Prijoles EJ, Lyons MJ, Davis H, Clarkson K, Gripp KW, Li D, Bhoj E, Zackai E, Mark P, Hakonarson H, Demmer LA, Levy MA, Kerkhof J, Stuart A, Rodenhiser D, Friez MJ, Stevenson RE, Schwartz CE, Sadikovic B. : Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.  Clin Epigenetics  11(1): 64, 2019.

Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, Amudhavalli SM, Repnikova E, Saunders C, Thiffault I, Saadi I, Li D, Hakonarson H, Vial Y, Zackai E, Callier P, Drunat S, Verloes A. : Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.  Eur J Med Genet 62(12): 103588, 2019.

Broderick L, Yost S, Li D, McGeough MD, Booshehri LM, Guaderrama M, Brydges SD, Kucharova K, Patel NC, Harr M, Hakonarson H, Zackai E, Cowell IG, Austin CA, Hugle B, Gebauer C, Zhang J, Xu X, Wang J, Croker BA, Frazer KA, Putnam CD, Hoffman HM. : Mutations in topoisomerase IIbeta result in a B cell immunodeficiency.  Nat Commun  10(1): 3644, 2019.

Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallieres M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K. : Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.   Am J Hum Genet 105(5): 987-95, 2019.

Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar I, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalova D, Havlovicova M, Vlckova M, Sedlacek Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik R, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM. : De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.  Am J Hum Genet  105(2): 283-301, 2019.

Li D, March ME, Gutierrez-Uzquiza A, Kao C, Seiler C, Pinto E, Matsuoka LS, Battig MR, Bhoj EJ, Wenger TL, Tian L, Robinson N, Wang T, Liu Y, Weinstein BM, Swift M, Jung HM, Kaminski CN, Chiavacci R, Perkins JA, Levine MA, Sleiman PMA, Hicks PJ, Strausbaugh JT, Belasco JB, Dori Y, Hakonarson H. : ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.   Nat Med 25(7): 1116-22, 2019.

Liu Y, Chang X, Glessner J, Qu H, Tian L, Li D, Nguyen K, Sleiman PMA, Hakonarson H. : Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios.  Front Genet  10(819), 2019.

Murali C, Li D, Grand K, Hakonarson H, Bhoj E. : Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.  Am J Med Genet A  179(4): 655-58, 2019.

2018

Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick E, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ. : USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.   Hum Mol Genet 27(19): 3305-12, 2018.

Chang X, Li D, Tian L, Liu Y, March M, Wang T, Hou C, Pellegrino R, Levy R, Jen M, Soccio R, Sleiman P, Hakonarson H, Castelo-Soccio L. : Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).  J Pediatr 194: 248-52, 2018.

Li D, Wenger TL, Seiler C, March ME, Gutierrez-Uzquiza A, Kao C, Bhoj E, Tian L, Rosenbach M, Liu Y, Robinson N, Behr M, Chiavacci R, Hou C, Wang T, Bakay M, Pellegrino da Silva R, Perkins JA, Sleiman P, Levine MA, Hicks PJ, Itkin M, Dori Y, Hakonarson H. : Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.   Hum Mol Genet 27(18): 3233-45, 2018.

Pinz H, Pyle LC, Li D, Izumi K, Skraban C, Tarpinian J, Braddock SR, Telegrafi A, Monaghan KG, Zackai E, Bhoj EJ. : De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.  Am J Med Genet A  176(4): 969-72, 2018.

Roizen JD*, Li D*, O'Lear L, Javaid MK, Shaw NJ, Ebeling PR, Nguyen HH, Rodda CP, Thummel KE, Thacher TD, Hakonarson H, Levine MA. : CYP3A4 mutation causes vitamin D-dependent rickets type 3.  J Clin Invest  128(5): 1913-18, 2018.

Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, ... Li D et al: MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.  Neurogenetics 19(2): 93-103, 2018.

Wenger T*, Li D*, Harr MH, Tan WH, Pellegrino R, Stark Z, Hakonarson H, Bhoj E. : Expanding the Phenotypic Spectrum of TP63-Related Disorders including the First Set of Monozygotic Twins.  Am J Med Genet A  176(1): 75-81, 2018.

2017

Abraham MB, Li D, Tang D, O'Connell SM, McKenzie F, Lim EM, Hakonarson H, Levine MA, Choong CS. : Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.  Int J Pediatr Endocrinol  2017(1), 2017.

Dhir G, Li D, Hakonarson H, Levine MA. : Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.  Bone 97: 15-19, 2017.

Hawkes CP, Li D, Hakonarson H, Meyers KE, Thummel K, Levine MA. : CYP3A4 induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients with CYP24A1 Mutations.   J Clin Endocrinol Metab  102(5): 1440-46, 2017.

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, Eating Disorders Working Group of the Psychiatric Genomics C, Price Foundation Collaborative G. : A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.   Sci Rep 7(1): 3847, 2017.

Li D, Streeten EA, Chan A, Lwin W, Tian L, Pellegrino da Silva R, Kim CE, Anderson MS, Hakonarson H, Levine MA. : Exome sequencing reveals mutations in AIRE as a cause of isolated hypoparathyroidism.   J Clin Endocrinol Metab 102(5): 1726-33, 2017.

McCormack SE, Li D, Kim YJ, Lee JY, Kim SH, Rapaport R, Levine MA. : Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.   J Clin Endocrinol Metab 102(7): 2501-07, 2017.

Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG. : Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.   Am J Hum Genet 101(6): 985-94, 2017.

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 98(4): 782-8, 2016.

Cardinale CJ*, Li D*, Tian L, Connolly JJ, March ME, Hou C, Wang F, Snyder J, Kim CE, Chiavacci RM, Sleiman PM, Burnham JM, Hakonarson H. : Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.  BMC Musculoskelet Disord  17(1): 462, 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 138(2): 544-550, 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 101(5): 2196-2200, 2016.

Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stulpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hortnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ. : GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.   Am J Hum Genet 99(4): 802-816, 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 16(2): 497-508, 2016.

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  170(2): 482-486, 2016.

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 167(11): 2497-502, 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 25(3): 257-261, 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 52(2): 104-110, 2015.

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 23(2): 264-266, 2015.

Li YR, Li J, Zhao SD, Bradfield JP, Mentch FD, Maggadottir SM, ... Li D et al: Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.   Nat Med 21(9): 1018-1027, 2015.

Li YR, Zhao SD, Li J, Bradfield JP, Mohebnasab M, Steel L, ... Li D et al: Genetic sharing and heritability of paediatric age of onset autoimmune diseases.  Nat Commun 6: 8442, 2015.

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 43(2): 132-138, 2015.

2014

Boraska V, Franklin CS, Floyd JA, Thornton LM, Huckins LM, Southam L, ... Li D et al: A genome-wide association study of anorexia nervosa.   Mol Psychiatry 19(10): 1085-1094, 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, Yiran G, Tian L, Palmieri F, Hakonarson H. : AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.   JIMD Rep 14: 77-85, 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  99(9): E1774-1783, 2014.

2013

84.Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H. : Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.   Am J Hum Genet 92(6): 1001-1007, 2013.

Posters and Presentations

Invited Lectures

2022

Li D. Spliceosome malfunction causes three neurodevelopmental disorders with overlapping features. Nov 21st, 2022. Emory University, Department of Human Genetics, Grand Rounds.

2021

Li D. "Genetic Causes of CCLA and KLA." LGDA/LMI International Conference on Complex Lymphatic Anomalies. Virtual Conference. Oct 2021.

2019

Li D. Translational research study for CHAMP1-related neurodevelopmental disorder. June 28th – 30th, 2019. CHAMP1 Foundation Family and Science Engagement Conference. Orlando, Florida, USA