Matthew Deardorff, MD, PhD, FACMG
Dr. Deardorff studies syndromic disorders that involve intellectual disability. His goal is to develop tools to better understand the effect of genetic changes in children who have these conditions and to identify a strategy for medical intervention. He is pursuing this goal in both the lab and the clinic.
Education
University of Pennsylvania Perelman School of Medicine
Children's Hospital of Philadelphia, Pediatrics/Medical Genetics & Genomics
Children's Hospital of Philadelphia, Human Genetics
Accomplishments
Clinical Genetics and Genomics, American Board of Medical Genetics and Genomics
Publications
Oliver C, Groves L, Hansen BD, Salehi M, Kheradmand S, Carrico CS, Caudill P, Mattingly M, Dorsett D, Chea S, Pratap Singh V, Krantz ID, Huisman S, Deardorff MA, Kline AD. Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020. Am J Med Genet A. 2022.03;188(3):1005-1014. PMID: 34877788 https://pubmed.ncbi.nlm.nih.gov/34877788
Murrell JR, Nesbitt AMI, Baker SW, Pechter KB, Balciuniene J, Zhao X, Denenberg EH, DeChene ET, Wu C, Jayaraman P, Cao K, Gonzalez M, Devoto M, Testori A, Monos JD, Dulik MC, Conlin LK, Luo M, Gibson KM, Guan Q, Sarmady M, Bhoj E, Helbig I, Zackai EH, Bedoukian EC, Wilkens A, Tarpinian J, Izumi K, Skraban CM, Deardorff MA, Medne L, Krantz ID, Krock BL, Santani AB. Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? J Mol Diagn. 2022 03;24(3):274-286. PMID: 35065284 https://pubmed.ncbi.nlm.nih.gov/35065284
Derrington SF, Deardorff MA, Judkins AR, Gai X. Whose Data, Whose Risk? Omics Privacy Concerns Should be Defined by Individuals, not Researchers. Am J Bioeth. 2021.2;21(12):67-70. PMID: 34806958 https://pubmed.ncbi.nlm.nih.gov/34806958
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S; Genomics England Research Consortium; Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 11; 23(11):2122-2137. PMID: 34345025 https://pubmed.ncbi.nlm.nih.gov/34345025
Grand K, Skraban CM, Cohen JL, Dowsett L, Mazzola S, Tarpinian J, Bedoukian E, Nesbitt A, Denenberg B, Lulis L, Santani A, Zackai EH, Deardorff MA. Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome. Am J Med Genet A. 2021.09;185(9):2766-2775. PMID: 34160123 https://pubmed.ncbi.nlm.nih.gov/34160123
Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. ANKRD11 variants: KBG syndrome and beyond. Clin Genet. 2021 08; 100(2):187-200. PMID: 33955014 https://pubmed.ncbi.nlm.nih.gov/33955014
Li D, Wang Q, Gong NN, Kurolap A, Feldman HB, 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-Agosto 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 features. Sci Adv. 2021 05;7(20). PMID: 33980485 https://pubmed.ncbi.nlm.nih.gov/33980485
Baker SW, Duffy KA, Richards-Yutz J, Deardorff MA, Kalish JM, Ganguly A. Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome. J Med Genet. 2021 03; 58(3):178-184. PMID: 32430359 https://pubmed.ncbi.nlm.nih.gov/32430359
Osko JD, Porter NJ, Decroos C, Lee MS, Watson PR, Raible SE, Krantz ID, Deardorff MA, Christianson DW. Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders. J Struct Biol. 2021 Mar;213(1):107681. PMID: 33316326 https://pubmed.ncbi.nlm.nih.gov/33316326
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. 2021.02;7(8). PMID: 33597246 https://pubmed.ncbi.nlm.nih.gov/33597246
Ritter A, Berger JH, Deardorff M, Izumi K, Lin KY, Medne L, Ahrens-Nicklas RC. Variants in NAA15 cause pediatric hypertrophic cardiomyopathy. Am J Med Genet A. 2021.01;85(1):228-233. PMID: 33103328 https://pubmed.ncbi.nlm.nih.gov/33103328
Research
Syndromic disorders that involve intellectual disability.
