Matthew Dulik, PhD, DABMGG
Assistant Professor of Clinical Pathology and Laboratory Medicine
Perelman School of Medicine at the University of Pennsylvania
Director of Operations, Genomics Diagnostics Laboratory
Children’s Hospital of Philadelphia
Contact InformationChildren’s Hospital of Philadelphia
Department of Pathology and Laboratory Medicine
Abramson Pediatric Research Center, Rm. 706C
3615 Civic Center Blvd.
Philadelphia, PA 19104
Tel: 215-590-4473
Specialty Division
CHOP Genomic Diagnostics
Education
BS (Genetic Biology), Purdue University, 2001
MA (Anthropology), University of Pennsylvania, 2005
PhD (Anthropology), University of Pennsylvania, 2011
Specialty Certification
Diplomate of the American Board of Medical Genetics and Genomics Certified in Clinical Molecular Genetics and Genomics, 2015
Diplomate of the American Board of Medical Genetics and Genomics Certified in Clinical Cytogenetics and Genomics, 2017
Postgraduate Training
Fellow, Anthropology, University of Pennsylvania, 2011-12
Clinical Molecular Genetics Fellow, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, 2012-14
Postdoctoral Fellow, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, 2012-15
Clinical Cytogenetics Fellow, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, 2015-17
Awards and Honors
Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research (Semifinalist) / American Society of Human Genetics, 2013
Memberships and Professional Organizations
Forensic Anthropologist (Independent Consultant), 2006-present
American Association of Physical Anthropologists, 2006-present
American Society of Human Genetics, 2008-present
Genographic Consortium, National Geographic Society, 2009-12
National Human Genome Research Institute Clinical Sequencing Exploratory Research Program Actionability and Return of Results Working Group, 2012-17
National Human Genome Research Institute Clinical Sequencing Exploratory Research Program Sequencing Standards Working Group, 2012-17
Mitochondrial Sequence Data Resource Consortium, 2016-present
ClinGen Mitochondrial DNA Expert Panel, 2018-present
ClinGen Mitochondrial Gene Curation Panel, 2018-present
American College of Medical Genetics and Genomics, 2021-present
Web Links
Selected Publications
Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation
Reichert SL, Dechene E, Lulis L, Valverde K, Conway L, Dulik M. J Genet Couns 2024 Jan 10. doi: 10.1002/jgc4.1853. Epub ahead of print. PMID: 38197609.
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield
Yamamoto N, Balciuniene J, Hartman T, Diaz-Miranda MA, Bedoukian E, Devkota B, Lawrence A, Golenberg N, Patel M, Tare A, Chen R, Schindler E, Choi J, Kaur M, Charles S, Chen J, Fanning EA, Dechene E, Cao K, Jill MR, Rajagopalan R, Bayram Y, Dulik MC, Germiller J, Conlin LK, Krantz ID, Luo M. J Pediatr 262:113620, Nov 2023. doi: 10.1016/j.jpeds.2023.113620. Epub 2023 Jul 19. PMID: 37473993.
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum
YMcCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B; NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel; Gai X, Falk MJ, Zolkipli-Cunningham Z, Rahman S. Ann Neurol 94(4):696-712, Oct 2023. doi: 10.1002/ana.26716. Epub 2023 Aug 12. PMID: 37255483; PMCID: PMC10763625.
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder
Kuroda Y, Iwata-Otsubo A, Dias KR, Temple SEL, Nagao K, De Hayr L, Zhu Y, Isobe SY, Nishibuchi G, Fiordaliso SK, Fujita Y, Rippert AL, Baker SW, Leung ML, Koboldt DC, Harman A, Keena BA, Kazama I, Subramanian GM, Manickam K, Schmalz B, Latsko M, Zackai EH, Edwards M, Evans CA, Dulik MC, Buckley MF, Yamashita T, O'Brien WT, Harvey RJ, Obuse C, Roscioli T, Izumi K. Genet Med 25(7):100861, Jul 2023. doi: 10.1016/j.gim.2023.100861. Epub 2023 Apr 20. PMID: 37087635.
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
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, McDonald Gibson K, 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. J Mol Diagn 24(3):274-286, Mar 2022. doi: 10.1016/j.jmoldx.2021.12.002. Epub 2022 Jan 19. PMID: 35065284; PMCID: PMC9904168.
Alternative Sample Matrices Supporting Remote Sample Collection during the Pandemic and Beyond
Gill EL, Patel K, Dickerson JA, Dulik MC, Grant RP, Heaney DL, Rudge JW. Clin Chem 68(2):269-275, Feb 2022. doi: 10.1093/clinchem/hvab257. PMID: 34927671.
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease
Wang J, Balciuniene J, Diaz-Miranda MA, McCormick EM, Aref-Eshghi E, Muir AM, Cao K, Troiani J, Moseley A, Fan Z, Zolkipli-Cunningham Z, Goldstein A, Ganetzky RD, Muraresku CC, Peterson JT, Spinner NB, Wallace DC, Dulik MC, Falk MJ. Mol Genet Metab 135(1):93-101, Jan 2022. doi: 10.1016/j.ymgme.2021.12.006. Epub 2021 Dec 18. PMID: 34969639; PMCID: PMC8877466.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
McCormick EM, Lott MT, Dulik MC, Shen L, Attimonelli M, Vitale O, Karaa A, Bai R, Pineda-Alvarez DE, Singh LN, Stanley CM, Wong S, Bhardwaj A, Merkurjev D, Mao R, Sondheimer N, Zhang S, Procaccio V, Wallace DC, Gai X, Falk MJ. Hum Mutat 41(12):2028-2057, Dec 2020. doi: 10.1002/humu.24107. Epub 2020 Nov 10. PMID: 32906214; PMCID: PMC7717623.
Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution
Lalonde E, Rentas S, Lin F, Dulik MC, Skraban CM, Spinner NB. Front Pediatr 8:373, Jul 2020. doi: 10.3389/fped.2020.00373. PMID: 32733828; PMCID: PMC7360789.
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes
Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ. PLoS One 14(9):e0221829, Sep 2019. doi: 10.1371/journal.pone.0221829. PMID: 31479473; PMCID: PMC6719858.
