Matthew C. Dulik, PhD, DABMG
Locations: Main Building
About Matthew C. Dulik, PhD, DABMG
Titles
Laboratory Director, Division of Genomic Diagnostics
Assistant Professor of Clinical Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania
Awards and Honors
2013, Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research (Semifinalist) / American Society of Human Genetics
Leadership and Memberships
Memberships in Professional Organizations
2021-present, American College of Medical Genetics and Genomics, Fellow
2018-present, ClinGen Mitochondrial Gene Curation Panel
2018-present, ClinGen Mitochondrial DNA Expert Panel
2008-present, American Society of Human Genetics
2006-present, American Association of Physical Anthropologists
Editorial and Academic Positions
Editorial Positions
Journal of Molecular Diagnostics, ad hoc Reviewer
PLoS One, ad hoc Reviewer
Prenatal Diagnosis, ad hoc Reviewer
Genetics in Medicine, ad hoc Reviewer
Academic and Institutional Committees
2021-present, Epic Genomics Precision Medicine Workgroup
2021-present, Epic Genomics Molecular Diagnostics Workgroup
2021-present, GDL Analytics Group - Genomics Diagnostics Laboratory, Chair
2021-present, Test Utilization Committee - Genomics Diagnostics Laboratory
2019-present, Epic Beaker Genomics Section Workgroup - Genomics Diagnostics Laboratory, Director
2019-present, Epic Beaker Applications Workgroup - Department of Pathology and Laboratory Medicine
2019-present, PLM Test Development Committee - Department of Pathology and Laboratory Medicine
2018-present, Nexus Project Committee - Genomics Diagnostics Laboratory
2018-present, Executive Quality Committee - Department of Pathology and Laboratory Medicine
2017-present, Executive Operations Committee - Genomics Diagnostic Laboratory
2017-present, Quality Assurance and Project Improvement / Continuous Quality Improvement Committee - Department of Pathology and Laboratory Medicine
2017-present, Quality Assurance and Analytics Group - Genomic Diagnostics Laboratory, Chair
2017-present, LIS Governance Committee - Department of Pathology and Laboratory Medicine
2016-present, DGD Informed Consent Committee - Genomics Diagnostic Laboratory
Education & training
Undergraduate Degree
BS in Genetic Biology - Purdue University, West Lafayette, IN
Graduate Degree
PhD in Anthropology - University of Pennsylvania, Philadelphia, PA
MA in Anthropology - University of Pennsylvania, Philadelphia, PA
Fellowship
ABMGG Clinical Cytogenetics Fellow - Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia
ABMGG Clinical Molecular Genetics Fellow - Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA
Postdoctoral Fellow - Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA
Publications
Publications
2022
Murrell J.R., Nesbitt A.M.I., Baker S.W., Pechter K.B., Balciuniene J., Zhao X., Denenberg E.H., DeChene E.T., Wu C., Jayaraman P., Cao K., Gonzalez M., Devoto M., Testori A., Monos J.D., Dulik M.C., Conlin L.K., Luo M., McDonald Gibson K., Guan Q., Sarmady M., Bhoj E., Helbig I., Zackai E.H., Bedoukian E.C., Wilkens A., Tarpinian J., Izumi K., Skraban C.M., Deardorff M.A., Medne L., Krantz I.D., Krock B.L., Santani A.B.: Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? Journal of Molecular Diagnostics Jan 2022.
2021
Wang, J., Balciuniene, J., Diaz-Miranda, M.A., McCormick, E.M., Aref-Eshghi, E., Muir, A.M., Cao, K., Troiani, J., Moseley, A., Fan, Z., Zolkipli-Cunningham, Z., Goldstein, A., Ganetzky, R.D., Muraresku, C.C., Peterson, J.T., Spinner, N.B., Wallace, D.C., Dulik, M.C., Falk, M.J.: Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease. Molecular Genetics and Metabolism Dec 2021.
2020
McCormick, E.M.*, Lott, M.T.*, Dulik, M.C.*, Shen, L., Attimonelli, M., Vitale, O., Karaa, A., Bai, R., Pineda-Alvarez, D.E., Singh, L.N., Stanley, C.M., Wong, S., Bhardwaj, A., Merkurjev, D., Mao, R., Sondheimer, N., Zhang, S., Procaccio, V., Wallace, D.C., Gai, X., Falk, M.J.: Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Human Mutation 41(12): 2028-2057, Dec 2020 Notes: * equally contributed as first authors.
2019
Baker, S.W., Murrell, J.R., Nesbitt, A.I., Pechter, K.B., Balciuniene, J., Zhao, X., Yu, Z., Denenberg, E.H., DeChene, E.T., Wilkens, A.B., Bhoj, E.J., Guan, Q., Dulik, M.C., Conlin, L.K., Abou Tayoun, A.N., Luo, M., Wu, C., Cao, K., Sarmady, M., Bedoukian, E.C., Tarpinian, J., Medne, L., Skraban, C.M., Deardorff, M.A., Krantz, I.D., Krock, B.L., Santani, A.B.: Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. Journal of Molecular Diagnostics 21(1): 38-48, Jan 2019.
Hart, M.R., Biesecker, B.B., Blout, C.L., Christensen, K.D., Amendola, L.M., Bergstrom, K.L., Biswas,S., Bowling, K.M., Brothers, K.B., Conlin, L.K., Cooper, G.M., Dulik, M.C., East, K.M., Everett, J.N., Finnila, C.R., Ghazani, A.A., Gilmore, M.J., Goddard, K.A.B., Jarvik, G.P., Johnston, J.J., Kauffman, T.L., Kelley, W.V., Krier, J.B., Lewis, K.L., McGuire, A.L., McMullen, C., Ou, J., Plon, S.E., Rehm, H.L., Richards, C.S., Romasko, E.J., Sagardia, A.M., Spinner, N.B., Thompson, M.L., Turbitt, E., Vassy, J.L., Wilfond, B.S., Veenstra, D.L., Berg, J.S., Green, R.C., Biesecker, L.G., Hindorff, L.A.: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genetics in Medicine 21(5): 1100-1110, May 2019.
Gustafson M.A., McCormick E.M., Perera L., Longley M.J., Bai R., Kong J., Dulik M., Shen L., Goldstein A.C., McCormack S.E., Laskin B.L., Leroy B.P., Ortiz-Gonzalez X.R., Ellington M.G., Copeland W.C., Falk M.J.: 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. PLoS One 14(9): e0221829, Sep 2019.
2018
Romasko, E.J., Devkota, B., Biswas, S., Jayaraman, V., Rajagopalan, R., Dulik, M.C., Thom, C.S., Choi, J., Jairam, S., Scarano, M.I., Krantz, I.D., Spinner, N.B., Conlin, L.K., Lambert, M.P.: Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. American Journal of Hematology 93(1): 8-16, Jan 2018.
Porter, K.M., Kauffman, T.L., Koenig, B.A., Lewis, K.L., Rehm, H.L., Richards, C.S., Strande, N.T., Tabor, H.K., Wolf, S.M., Yang, Y., Amendola, L.M., Azzariti, D.R., Berg, J.S., Bergstrom, K., Biesecker, L.G., Biswas, S., Bowling, K.M., Chung, W.K., Clayton, E.W., Conlin, L.K., Cooper, G.M., Dulik, M.C., Garraway, L.A., Ghazani, A.A., Green, R.C., Hiatt, S.M., Jamal, S.M., Jarvik, G.P., Goddard, K.A.B., Wilfond, B.S.: Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. Molecular Genetics & Genomic Medicine 6(6): 898-909, Nov 2018.
Guan, Q., Balciuniene, J., Cao, K., Fan, Z., Biswas, S., Wilkens, A., Gallo, D.J., Bedoukian, E., Tarpinian, J., Jayaraman, P., Sarmady, M., Dulik, M., Santani, A., Spinner, N., Abou Tayoun, A.N., Krantz, I.D., Conlin, L.K., Luo, M.: AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. Genetics in Medicine 20(12): 1600-1608, Dec 2018.
Sheppard, S., Biswas, S., Li, M., Jayaraman, V., Slack, I., Romasko, E.J., Sasson, A., Brunton, J., Rajagopalan, R., Sarmady, M., Abrudan, J.L., Jairam, S., DeChene, E.T., Ying, X., Choi, J., Wilkens, A., Raible, S.E., Scarano, M.I., Santani, A., Pennington, J.W., Luo, M., Conlin, L.C., Devkota, B., Dulik, M.C., Spinner, N.B., Krantz, I.D.: Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. Genetics in Medicine 20(12): 1663-1676, Dec 2018.
2016
Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Performance of ACMG/AMP variant interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research consortium. American Journal of Human Genetics 98(6):1067-76, 2016.
2015
Li MH, Abrudan JL, Dulik MC, Sasson A, Brunton J, Jayaraman V, Dugan N, Haley D, Rajagopalan R, Biswas S, Sarmady M, DeChene ET, Deardorff MA, Wilkens A, Noon SE, Scarano MI, Santani AB, White PS, Pennington J, Conlin LK, Spinner NB, Krantz ID, Vetter VL. Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. Human Genomics 19;9:15. doi: 10.1186/s40246-015-0038-y, 2015.
Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID. Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nature Genetics 47(4):338-44, 2015.
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Research 25(3):305-315, 2015.
2014
Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, Robinson PN, White PS. Clinical phenotype-based gene prioritization: An initial study using semantic similarity and the Human Phenotype Ontology. BMC Bioinformatics 15:248, 2014.
2013
Badano, I., Schurr, T.G., Stietz, S.M., Dulik, M.C., Mampaey, M., Quintero, I.M., Zinovich, J.B., Campos, R.H., Liotta, D.J.: TNF promoter SNP variation in Amerindians and white-admixed women from Misiones, Argentina. International Journal of Immunogenetics 40(3): 216-21, Jun 2013.
Berg, J.S., Amendola, L.M., Eng, C., Van Allen, E., Gray, S.W., Wagle, N., Rehm, H.L., DeChene, E.T, Dulik, M.C., Hisama, F.M., Burke, W., Spinner, N.B., Garraway, L., Green, R.C., Plon, S., Evans, J.P., Jarvik, G.P.: Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genetics in Medicine 15(11): 860-7, Nov 2013.
Schurr, T.G., Dulik, M.C., Cafaro, T.A., Suarez, M.F., Urrets-Zavalia, J.A., Serra, H.M.: Genetic background and climatic droplet keratopathy incidence in a Mapuche population from Argentina. PloS One 8(9): e74593, 2013.
2012
Dulik, M.C., Zhadanov, S.I., Osipova, L.P., Askapuli, A., Gau, L., Gokcumen, O., Rubinstein, S., Schurr, T.G.: Mitochondrial DNA and Y chromosome variation provides evidence for a recent common ancestry between Native Americans and Indigenous Altaians. American Journal of Human Genetics 90(2): 229-46, Feb 2012.
Dulik, M.C., Owings, A.C., Gaieski, J.B., Vilar, M.G., Andre, A., Lennie, C., Mackenzie, M.A., Kritsch, I., Snowshoe, S., Wright, R., Martin, J., Gibson, N., Andrews, T.D., Schurr, T.G.: Y-chromosome analysis reveals genetic divergence and new founding native lineages in Athapaskan- and Eskimoan-speaking populations. Proceedings of the National Academy of Sciences of the United States of America 109(22): 8471-6, May 2012.
Schurr, T.G., Dulik, M.C., Owings, A.C, Zhadanov, S.I., Gaieski, J.B., Vilar, M.G., Ramos, J., Moss, M.B., Natkong, F.: Clan, language, and migration history has shaped genetic diversity in Haida and Tlingit populations from Southeast Alaska. American Journal of Physical Anthropology 148(3): 422-35, Jul 2012.
2011
Stefflova, K., Dulik, M.C., Barnholtz-Sloan, J.S., Pai, A.A., Walker, A.H., Rebbeck, T.R.: Dissecting the within-Africa ancestry of populations of African descent in the Americas. PloS One 6(1): e14495, Jan 2011.
Dulik, M.C., Osipova, L.P., Schurr, T.G.: Y-chromosome variation in Altaian Kazakhs reveals a common paternal gene pool for Kazakhs and the influence of Mongolian expansions. PloS One 6(3): e17548, Mar 2011.
Xie, H.M, Perin, J.C., Schurr, T.G., Dulik, M.C., Zhadanov, S.I., Baur, J.A., King, M.P., Place, E., Clarke, C., Grauer, M., Schug, J., Santani, A., Albano, A., Kim, C., Procaccio, V., Hakonarson, H., Gai, X., Falk, M.J.: Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy. BMC Bioinformatics 12: 402, Oct 2011.
Gaieski, J.B., Owings, A.C., Vilar, M.G., Dulik, M.C., Gaieski D.F., Gittelman, R.M., Lindo, J., Gau, L., Schurr, T.G.: Genetic ancestry and indigenous heritage in a Native American descendant community in Bermuda. American Journal of Physical Anthropology 146(3): 392-405, Nov 2011.
2010
Zhadanov, S.I., Dulik, M.C., Markley, M., Jennings, G.W., Gaieski, J.B., Elias, G., Schurr, T.G.: Genetic heritage and native identity of the Seaconke Wampanoag tribe of Massachusetts. American Journal of Physical Anthropology 142(4): 579-89, Aug 2010.
2009
Stefflova, K., Dulik, M.C., Pai, A.A., Walker, A.H., Zeigler-Johnson, C.M., Gueye, S.M., Schurr, T.G., Rebbeck, T.R.: Evaluation of group genetic ancestry of populations from Philadelphia and Dakar in the context of sex-biased admixture in the Americas. PloS One 4(11): e7842, Nov 2009.
2008
Rubinstein, S., Dulik, M.C., Gokcumen, O., Zhadanov, S., Osipova, L., Cocca, M., Mehta, N., Gubina, M., Posukh, O., Schurr, T.G.: Russian Old Believers: genetic consequences of their persecution and exile, as shown by mitochondrial DNA evidence. Human Biology 80(3): 203-37, Jun 2008.
Gokcumen, O., Dulik, M.C., Pai, A.A., Zhadanov, S.I., Rubinstein, S., Osipova, L.P., Andreenkov, O.V., Tabikhanova, L.E., Gubina, M.A., Labuda, D., Schurr, T.G.: Genetic variation in the enigmatic Altaian Kazakhs of South-Central Russia: insights into Turkic population history. American Journal of Physical Anthropology 136(3): 278-93, Jul 2008.
Editorials, Reviews, Chapters
2018
Dulik, M.C., Slack, I.F., Kelsen, J., and Spinner, N.B.: Genetic Testing Walker's Pediatric Gastrointestinal Disease: Physiology, Diagnosis, Management, 6th edition. PMPH-USA Limited, Page: 34, 2018 Notes: Book Chapter.
2011
Dulik MC, Lorenz JG, and Schurr TG. 2011. Hasanlu IVB: An ancient DNA pilot project. In: de Schauensee M, editor. Peoples and Crafts in Period IVB at Hasanlu, Iran. Philadelphia
2010
Schurr TG, Osipova LP, Zhadanov SI, and Dulik MC. 2010. Genetic diversity in Native Siberians: Implications for the prehistoric settlement of the Cis-Baikal region. In: Weber AW, Katzenberg MA, and Schurr TG, editors. Prehistoric Hunter-Gatherers of the Baikal Region, Siberia. Philadelphia: University of Pennsylvania Press. p 121-134.