Matthew C. Dulik, PhD, DABMG

Matthew C. Dulik, PhD, DABMG

Matthew C. Dulik, PhD, DABMG, is a director in the Division of Genomic Diagnostics at The Children's Hospital of Philadelphia.

Locations: Main Campus
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

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

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

Titles and Academic Titles

Assistant Technical Director, Division of Genomic Diagnostics

Departments and Services

Publications

Papers

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.

Abstracts

2016

Romasko E, Biswas S, Conlin L, Devkota B, Dulik M, Jairam S, Jayaraman V, Krantz I, Lambert M, Scarano M, Spinner N, Thom C. Utility and Limitations of Exome Sequencing in the Diagnosis of Pediatric Platelet Disease (American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa FL 2016).

Rehm H, Amendola L, Leo M, McLaughlin H, Akkari Y, Amaral M, Biesecker L, Biswas S, Bowling K, Conlin L, Cooper G, Dorschner M, Dulik M, Ghazani A, Ghosh R, Green R, Hart R, Horton C, Johnston J, Lebo M, Milosavljevic A, Ou J, Pak C, Patel R, Plon S, Punj S, Richards S, Salama J, Strande N, Yang Y, Jarvik G. Performance of the ACMG/AMP Variant Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research (CSER) Consortium (American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa FL 2016).

Luo M, Guan Q, Cao K, Biswas S, Fan Z, Slack I, Dulik M, Yu Z, DeChene E, Noon S, Sarmady M, Denenberg E, Mulchandani S, Santani A, Krantz I, Spinner N, Conlin L. Utility of an Exome Sequencing based Virtual Panel for the Diagnosis of Nonsyndromic Hearing Loss (American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa FL 2016).

Kauffman T, Porter K, Goddard K, Jarvik G, Rehm H, Amendola L, Berg J, Dulik M, Chung W, Conlin L, Bergstrom K, Biswas S, Biesecker L, Lewis K, Johnston J, Wilfond B. Variable Approaches for Disclosure of Carrier Results in Clinical Genomic Sequencing Research (American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa FL 2016).

Biswas S, Conlin L, Devkota B, Dulik M, Helbig I, Jairam S, Jayaraman V, Krantz I, Li M, Romasko E, Scarano M, Slack I, Spinner N. Comparison of Computational and Clinician based Phenotype Correlation of Singleton Exome Cases in Neurodevelopmental Disorders (American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa FL 2016).

Rajagopalan R, Devkota B, Jayaraman P, Cao K, Jayaraman V, Biswas S, Sarmady M, Dulik MC, Spinner NB, Krantz ID, Conlin LK. Copy-number variation detection by chromosomal microarray compared to exome sequencing. (CHOP Research Poster Day. 2016).

2015

Jayaraman V, Abrudan J, Li M, Slack I, Sasson A, Dulik M, Biswas S, DeChene E, Luo M, Scarano I, Tilton R, Noon S, Wilkens A, Ying X, Conlin L, Pennington J, Spinner N, Krantz I. Utility and limitations of exome sequencing as diagnostic tool for bilateral sensorineural hearing loss. (American Society of Human Genetics Annual Meeting, Baltimore 2015).

Jarvik GP, Amendola LM, McLaughlin H, Leo M, Milosavljevic A, Horton C, Ghosh R, Dorschner M, Punj S, Pak C, Akkari Y, Salama J, Cooper G, Biesecker L, Conlin LK, Biswas S, Dulik M, Ghazani A, Strande NT, Yang Y, Van Allen E, Wagle N, Green RC, Krantz I, Chinnaiyan A, Berg JS, Evans JP, Garraway L, Goddard KAB, Spinner N, Plon SE, Richards S, and Rehm HL. Performance of ACMG variant classification guidelines within and among 9 CLIA labs in the Clinical Sequencing Exploratory Research (CSER) Consortium. (American Society of Human Genetics Annual Meeting, Baltimore 2015).

Dulik MC, Conlin LC, Biswas S, Abrudan JL, Jaaraman V, Li MH, Krantz ID, Spinner NB. Impact and implementation of benchmarking frequency thresholds for variant filtering in clinical diagnostics (American Society of Human Genetics Annual Meeting, Baltimore 2015).

Askapuli A, Dulik MC, Zhadanov SI, Osipova LP, Schurr TG. Haplogroup C Phylogeny for Altaian Populations and its Implications for the Peopling of Siberia and the Americas. (American Society of Human Genetics Annual Meeting, Baltimore 2015).

Slack I, Abrudan J, Biswas S, Conlin L, Dulik M, Li M, Ying X, Spinner N, Krantz I. From PediSeq to PediSeekers: A Crowdsourcing Approach to Variant Interpretation. (American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting, in Salt Lake City, Utah 2015).

Li M, Biswas S, Wilkens A, Slack I, Abrudan J, Dulik M, Conlin L, Spinner N, Krantz I. Phenotype Capture and Utilization of a Common Electronic Health Record System to Evaluate Pediatric Individuals with Intellectual Disability Undergoing Exome Sequencing. (American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting, in Salt Lake City, Utah 2015).

Abrudan J, Dulik M, Biswas S, Li M, Conlin L, Slack I, Spinner NB, Krantz I. PediSeq Variant Knowledge Capture Database: a Framework for a Team Approach to Variant Analysis. (American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting, in Salt Lake City, Utah 2015).

2014

Tilton RK, Brunton J, Jayaraman V, Dulik MC, Abrudan JL, Rajagopalan R, Li M, Noon SE, DeChene ET, Wilkens A, Sasson A, Sarmady M, Dickinson A, Kaur M, Conlin LK, Spinner NB, Krantz ID. Whole exome sequencing as a diagnostic tool for pediatric diagnoses: bilateral sensorineural hearing loss as a model. (Presented at the Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting, in Vancouver, Canada, 2014).

White PS, Italia MJ, Karavite D, Miller J, Masino AJ, Naegely D, Perin JC, Ruth B, Sarmady M, Sasson A, Abrudan JL, DeChene ET, Dulik MC, Wilkens A, Michel J, Grundmeier R, Krantz ID, Stolle C, Santani A, Spinner NB, Pennington JW. Bedside to bedside: seamless collection, analysis, and delivery of genomic data in a diagnostic setting. (Presented at the ACMG Annual Clinical Genetics Meeting, in Nashville, Tennessee, 2014).

Mulchandani S, DeChene ET, Dulik MC, Conlin LK, Abrudan JL, Bernhardt BA, Pyeritz RE, Wilkens A, Noon SE, Krantz ID, Spinner NB. Lessons learned utilizing an evidence-based framework for incidental findings from exome sequencing in the pediatric setting. (Presented at the ACMG Annual Clinical Genetics Meeting, in Nashville, Tennessee, 2014).

Masino AJ, DeChene ET, Dulik MC, Spinner NB, Krantz ID, Wilkens A, Pennington JW, White PS. Clinical genetic variant prioritization using phenotype semantic similarity. (Presented at the ACMG Annual Clinical Genetics Meeting, in Nashville, Tennessee, 2014).

Li MH, Brunton J, Jayaraman V, Haley D, Dugan N, Dulik MC, Abrudan JL, Rajagopalan R, Sasson A, DeChene ET, Sarmady M, Conlin LK, White PS, Spinner NB, Krantz ID, Vetter V. Utility and limitations of exome sequencing as a genetic diagnostic tool for pediatric disorders: sudden cardiac arrest/sudden cardiac death as a model. (Presented at the ACMG Annual Clinical Genetics Meeting, in Nashville, Tennessee, 2014).

Italia MJ, Ruth B, Sarmady M, Perin JC, Naegely D, Santani A, Dulik MC, Abrudan J, Spinner NB, Krantz ID, Pennington JW, White PS. Varify: An open-source solution for genome-scale clinical diagnostics and knowledge capture. (Presented at the ACMG Annual Clinical Genetics Meeting, in Nashville, Tennessee, 2014).

Books

Chapters

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.

Leadership and Memberships

Memberships in Professional Organizations

2008-present, American Society of Human Genetics (trainee)

2006-present, American Association of Physical Anthropologists (full member)