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Dong Li, PhD
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Assistant Professor of Genetics (Human Genetics) at the Hospital of the University of Pennsylvania
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Department: Genetics
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Contact information
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Genetic Diagnostic Laboratory
f 526 CRB
36 415 Curie Boulevard
Philadelphia, PA 19104
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f 526 CRB
36 415 Curie Boulevard
Philadelphia, PA 19104
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Office: (215) 898-5032
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Publications
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Education:
21 9 B.S. 1a (Biotechnology) c
34 Southwest University, China, 2006.
21 a Ph.D. 2f (Biochemistry and Molecular Biology) c
34 Southwest University, China, 2011.
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Permanent link21 9 B.S. 1a (Biotechnology) c
34 Southwest University, China, 2006.
21 a Ph.D. 2f (Biochemistry and Molecular Biology) c
34 Southwest University, China, 2011.
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c2 Deutsch HM, Song Y, Li D. : Spliceosome complex and neurodevelopmental disorders. Curr Opin Genet Dev 93(102358), 2025.
149 Li D, Mailand N, Ewing EU, Hoffmann S, Caswell RC, Pang L, Eason J, Dou Y, Sullivan KE, Hakonarson H, Levine MA. : Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis. JCI Insight 2025.
172 Li D, Matsuoka LS, Donoghue S, Hou C, Strong A, McDonald-McGinn DM, Whitaker L, Taylor J, Bhoj EJ, Hakonarson H, Zackai EH. : Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome. Eur J Hum Genet 2025.
338 Li D*,#, Wang Q*, Bayat A*, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Perez-Jurado LA, Aznar-Lain G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Moller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, 403 Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia Moya L, Garcia-Minaur S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Habdallah H, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser J, Shoubridge C, Corbett M, Barnett C, Gecz J, Leppig K, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, Tumer Z, Zackai EH, Akizu N, Song Y, Hakonarson H.: Spliceosome malfunction causes neurodevelopmental disorders 52 with overlapping features. J Clin Invest 134(1), Jan 2024.
147 Li D, Jan de Beur S, Hou C, Ruzhnikov MR, Seeley H, Cutting GR, Sheridan MB, Levine MA.: Recurrent Small Variants in NESP55/NESPAS Associated with Broad GNAS Methylation Defects and Pseudohypoparathyroidism Type 1b. JCI Insight. 20(9): e185874, Dec 2024.
27a Li D*,Sheppard SE*, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H. : Genomic profiling informs diagnoses and treatment in vascular anomalies. Nat Med 29(6): 1530-1539, Jun 2023.
1fa 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, Jul 2019.
28c 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): ebaf2066, May 2021.
1a4 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, Apr 2021.
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Selected Publications
1be Li D, Tasian SK, Wertheim G, Rheingold SR, Bernt KM, Newman H, Wainwright L, Wilmoth DM, Thiel B, Surrey LF, Margolskee E, Pillai V, Luo M, Paessler ME, Hunger SP, Li MM, Zhong Y. : Integrated genomic analysis to reduce chromosomal analysis for the diagnosis of pediatric hematologic malignancies: addressing the shortage of cytogenetic technologists. Haematologica 2025.c2 Deutsch HM, Song Y, Li D. : Spliceosome complex and neurodevelopmental disorders. Curr Opin Genet Dev 93(102358), 2025.
149 Li D, Mailand N, Ewing EU, Hoffmann S, Caswell RC, Pang L, Eason J, Dou Y, Sullivan KE, Hakonarson H, Levine MA. : Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis. JCI Insight 2025.
172 Li D, Matsuoka LS, Donoghue S, Hou C, Strong A, McDonald-McGinn DM, Whitaker L, Taylor J, Bhoj EJ, Hakonarson H, Zackai EH. : Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome. Eur J Hum Genet 2025.
338 Li D*,#, Wang Q*, Bayat A*, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Perez-Jurado LA, Aznar-Lain G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Moller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, 403 Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia Moya L, Garcia-Minaur S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Habdallah H, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser J, Shoubridge C, Corbett M, Barnett C, Gecz J, Leppig K, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, Tumer Z, Zackai EH, Akizu N, Song Y, Hakonarson H.: Spliceosome malfunction causes neurodevelopmental disorders 52 with overlapping features. J Clin Invest 134(1), Jan 2024.
147 Li D, Jan de Beur S, Hou C, Ruzhnikov MR, Seeley H, Cutting GR, Sheridan MB, Levine MA.: Recurrent Small Variants in NESP55/NESPAS Associated with Broad GNAS Methylation Defects and Pseudohypoparathyroidism Type 1b. JCI Insight. 20(9): e185874, Dec 2024.
27a Li D*,Sheppard SE*, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H. : Genomic profiling informs diagnoses and treatment in vascular anomalies. Nat Med 29(6): 1530-1539, Jun 2023.
1fa 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, Jul 2019.
28c 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): ebaf2066, May 2021.
1a4 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, Apr 2021.
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