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Matthew C. Dulik, Ph.D. - Publications

Affiliations: 
2011 University of Pennsylvania, Philadelphia, PA, United States 
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29/47 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 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, et al. Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Human Mutation. PMID 32906214 DOI: 10.1002/Humu.24107  0.454
2020 Lalonde E, Rentas S, Lin F, Dulik MC, Skraban CM, Spinner NB. Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution. Frontiers in Pediatrics. 8: 373. PMID 32733828 DOI: 10.3389/Fped.2020.00373  0.356
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, et al. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. American Journal of Human Genetics. PMID 27181684 DOI: 10.1016/J.Ajhg.2016.03.024  0.37
2016 Romasko EJ, Biswas S, Devkota B, Vijayakumar J, Jairam S, Thom CS, Dulik MC, Conlin LK, Spinner NB, Krantz ID, Lambert MP. Utility of Whole Exome Sequencing in Diagnosis of Pediatric Platelet Disorders: A Subanalysis of the Pediseq Study Blood. 128: 3726-3726. DOI: 10.1182/Blood.V128.22.3726.3726  0.324
2016 Fan J, Mulchandani S, Dulik M, Chen J, Gleason A, Jayaraman P, Sarmady M, Zackai E, Luo M, Spinner N, Conlin L. Assessing Copy Number Variants Involving ACMGG Secondary Finding Genes Identified by Routine Chromosomal SNP Array in a Clinical Pediatric Population Cancer Genetics. 209: 230. DOI: 10.1016/J.Cancergen.2016.05.005  0.382
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, et al. Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. Human Genomics. 9: 15. PMID 26187847 DOI: 10.1186/S40246-015-0038-Y  0.321
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, ... ... Dulik MC, et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Research. 25: 305-15. PMID 25637381 DOI: 10.1101/Gr.183483.114  0.374
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. PMID 25047600 DOI: 10.1186/1471-2105-15-248  0.303
2014 Berg JS, Amendola LM, Eng C, Allen EV, Gray SW, Wagle N, Rehm HL, DeChene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, et al. Erratum: 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 (2013) 15 (860-867) DOI:10.1038/gim.2013.133) Genetics in Medicine. 16. DOI: 10.1038/Gim.2013.191  0.368
2013 Berg JS, Amendola LM, Eng C, Van Allen E, Gray SW, Wagle N, Rehm HL, DeChene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, et al. 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 : Official Journal of the American College of Medical Genetics. 15: 860-7. PMID 24195999 DOI: 10.1038/Gim.2013.133  0.344
2013 Schurr TG, Dulik MC, Cafaro TA, Suarez MF, Urrets-Zavalia JA, Serra HM. Genetic background and climatic droplet keratopathy incidence in a Mapuche population from Argentina. Plos One. 8: e74593. PMID 24040292 DOI: 10.1371/Journal.Pone.0074593  0.735
2013 Boattini A, Martinez-Cruz B, Sarno S, Harmant C, Useli A, Sanz P, Yang-Yao D, Manry J, Ciani G, Luiselli D, Quintana-Murci L, Comas D, Pettener D, Adhikarla S, Adler CJ, ... ... Dulik MC, et al. Uniparental Markers in Italy Reveal a Sex-Biased Genetic Structure and Different Historical Strata Plos One. 8. PMID 23734255 DOI: 10.1371/Journal.Pone.0065441  0.674
2013 Brotherton P, Haak W, Templeton J, Brandt G, Soubrier J, Jane Adler C, Richards SM, Sarkissian CD, Ganslmeier R, Friederich S, Dresely V, van Oven M, Kenyon R, Van der Hoek MB, Korlach J, ... ... Dulik MC, et al. Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans. Nature Communications. 4: 1764. PMID 23612305 DOI: 10.1038/Ncomms2656  0.667
2013 Badano I, Schurr TG, Stietz SM, Dulik MC, Mampaey M, Quintero IM, Zinovich JB, Campos RH, Liotta DJ. TNF promoter SNP variation in Amerindians and white-admixed women from Misiones, Argentina. International Journal of Immunogenetics. 40: 216-21. PMID 23077985 DOI: 10.1111/Iji.12002  0.677
2012 Dulik MC, Owings AC, Gaieski JB, Vilar MG, Andre A, Lennie C, Mackenzie MA, Kritsch I, Snowshoe S, Wright R, Martin J, Gibson N, Andrews TD, Schurr TG. 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: 8471-6. PMID 22586127 DOI: 10.1073/Pnas.1118760109  0.73
2012 Schurr TG, Dulik MC, Owings AC, Zhadanov SI, Gaieski JB, Vilar MG, Ramos J, Moss MB, 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: 422-35. PMID 22549307 DOI: 10.1002/Ajpa.22068  0.747
2012 Dulik MC, Zhadanov SI, Osipova LP, Askapuli A, Gau L, Gokcumen O, Rubinstein S, Schurr TG. 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: 229-46. PMID 22281367 DOI: 10.1016/J.Ajhg.2011.12.014  0.773
2012 Dulik MC, Zhadanov SI, Osipova LP, Askapuli A, Gau L, Gokcumen O, Rubinstein S, Schurr TG. Erratum: Mitochondrial DNA and y chromosome variation provides evidence for a recent common ancestry between native Americans and indigenous altaians ((The American Journal of Human Genetics (2012) 90 (229-246)) American Journal of Human Genetics. 90. DOI: 10.1016/J.Ajhg.2012.02.003  0.754
2012 Matney T, Algaze G, Dulik MC, Erdal OD, Erdal YS, Gokcumen O, Lorenz J, Mergen H. Understanding Early Bronze Age social structure through mortuary remains: A pilot aDNA study from Titriş Höyük, southeastern Turkey International Journal of Osteoarchaeology. 22: 338-351. DOI: 10.1002/Oa.1213  0.688
2011 Xie HM, Perin JC, Schurr TG, Dulik MC, Zhadanov SI, Baur JA, King MP, Place E, Clarke C, Grauer M, Schug J, Santani A, Albano A, Kim C, Procaccio V, et al. Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy. Bmc Bioinformatics. 12: 402. PMID 22011106 DOI: 10.1186/1471-2105-12-402  0.599
2011 Gaieski JB, Owings AC, Vilar MG, Dulik MC, Gaieski DF, Gittelman RM, Lindo J, Gau L, Schurr TG. Genetic ancestry and indigenous heritage in a Native American descendant community in Bermuda. American Journal of Physical Anthropology. 146: 392-405. PMID 21994016 DOI: 10.1002/Ajpa.21588  0.713
2011 Dulik MC, Osipova LP, Schurr TG. Y-chromosome variation in Altaian Kazakhs reveals a common paternal gene pool for Kazakhs and the influence of Mongolian expansions. Plos One. 6: e17548. PMID 21412412 DOI: 10.1371/Journal.Pone.0017548  0.754
2011 Stefflova K, Dulik MC, Barnholtz-Sloan JS, Pai AA, Walker AH, Rebbeck TR. Dissecting the within-Africa ancestry of populations of African descent in the Americas. Plos One. 6: e14495. PMID 21253579 DOI: 10.1371/Journal.Pone.0014495  0.604
2010 Zhadanov SI, Dulik MC, Markley M, Jennings GW, Gaieski JB, Elias G, Schurr TG. Genetic heritage and native identity of the Seaconke Wampanoag tribe of Massachusetts. American Journal of Physical Anthropology. 142: 579-89. PMID 20229500 DOI: 10.1002/Ajpa.21281  0.727
2010 Schurr TG, Osipova LP, Zhadanov SI, Dulik MC. Genetic diversity in native siberians: Implications for the prehistoric settlement of the Cis-Baikal Region Prehistoric Hunter-Gatherers of the Baikal Region, Siberia: Bioarchaeological Studies of Past Life Ways. 121-134.  0.613
2009 Stefflova K, Dulik MC, Pai AA, Walker AH, Zeigler-Johnson CM, Gueye SM, Schurr TG, Rebbeck TR. Evaluation of group genetic ancestry of populations from Philadelphia and Dakar in the context of sex-biased admixture in the Americas. Plos One. 4: e7842. PMID 19946364 DOI: 10.1371/Journal.Pone.0007842  0.746
2008 Rubinstein S, Dulik MC, Gokcumen O, Zhadanov S, Osipova L, Cocca M, Mehta N, Gubina M, Posukh O, Schurr TG. Russian Old Believers: genetic consequences of their persecution and exile, as shown by mitochondrial DNA evidence. Human Biology. 80: 203-37. PMID 19130794 DOI: 10.3378/1534-6617-80.3.203  0.77
2008 Gokcumen O, Dulik MC, Pai AA, Zhadanov SI, Rubinstein S, Osipova LP, Andreenkov OV, Tabikhanova LE, Gubina MA, Labuda D, Schurr TG. Genetic variation in the enigmatic Altaian Kazakhs of South-Central Russia: insights into Turkic population history. American Journal of Physical Anthropology. 136: 278-93. PMID 18322915 DOI: 10.1002/Ajpa.20802  0.78
2008 Rubinstein S, Dulik MC, Gokcumen O, Zhadanov S, Osipova L, Cocca M, Mehta N, Gubina M, Posukh O, Schurr TG. Russian old believers: Genetic consequences of their persecution and exile, as shown by mitochondrial DNA evidence (Human Biology (2009) 80, 3 (203-237)) Human Biology. 80: 675-677. DOI: 10.3378/1534-6617-80.6.675  0.654
Low-probability matches (unlikely to be authored by this person)
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, et al. Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nature Genetics. 47: 338-44. PMID 25730767 DOI: 10.1038/Ng.3229  0.271
2018 Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, et al. Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30287922 DOI: 10.1038/S41436-018-0308-X  0.255
2019 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, et al. 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: e0221829. PMID 31479473 DOI: 10.1371/Journal.Pone.0221829  0.251
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, et al. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. American Journal of Human Genetics. 99: 247. PMID 27392081 DOI: 10.1016/J.Ajhg.2016.06.001  0.251
2021 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, ... ... Dulik MC, et al. Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease. Molecular Genetics and Metabolism. PMID 34969639 DOI: 10.1016/j.ymgme.2021.12.006  0.248
2024 Reichert SL, Dechene E, Lulis L, Valverde K, Conway L, Dulik M. Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation. Journal of Genetic Counseling. PMID 38197609 DOI: 10.1002/jgc4.1853  0.245
2022 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, et al. Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? The Journal of Molecular Diagnostics : Jmd. PMID 35065284 DOI: 10.1016/j.jmoldx.2021.12.002  0.228
2023 McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B, Alves CAPF, Ardissone A, Bai R, de Barcelos IP, Bertini E, Bluske K, Christodoulou J, Clause AR, ... ... Dulik MC, et al. Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum. Annals of Neurology. PMID 37255483 DOI: 10.1002/ana.26716  0.224
2018 Conlin LK, Weckselblatt B, Fan J, Zackai E, Dulik MC, Spinner NB, Luo M. 1. Detection of mosaicism and chimerism using SNP arrays in pediatric clinical testing: 10 year experience Cancer Genetics and Cytogenetics. 224: 51. DOI: 10.1016/J.Cancergen.2018.04.004  0.218
2018 Sheppard S, Biswas S, Li MH, Jayaraman V, Slack I, Romasko EJ, Sasson A, Brunton J, Rajagopalan R, Sarmady M, Abrudan JL, Jairam S, DeChene ET, Ying X, Choi J, ... ... Dulik MC, et al. Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29907799 DOI: 10.1038/S41436-018-0004-X  0.21
2018 Guan Q, Balciuniene J, Cao K, Fan Z, Biswas S, Wilkens A, Gallo DJ, Bedoukian E, Tarpinian J, Jayaraman P, Sarmady M, Dulik M, Santani A, Spinner N, Abou Tayoun AN, et al. AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29595809 DOI: 10.1038/Gim.2018.48  0.196
2017 Romasko EJ, Devkota B, Biswas S, Jayaraman V, Rajagopalan R, Dulik MC, Thom CS, Choi J, Jairam S, Scarano MI, Krantz ID, Spinner NB, Conlin LK, Lambert MP. Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. American Journal of Hematology. PMID 28960434 DOI: 10.1002/Ajh.24917  0.168
2018 Porter KM, Kauffman TL, Koenig BA, Lewis KL, Rehm HL, Richards CS, Strande NT, Tabor HK, Wolf SM, Yang Y, Amendola LM, Azzariti DR, Berg JS, Bergstrom K, Biesecker LG, ... ... Dulik MC, et al. Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. Molecular Genetics & Genomic Medicine. PMID 30133189 DOI: 10.1002/Mgg3.453  0.146
2019 Baker SW, Murrell JR, Nesbitt AI, Pechter KB, Balciuniene J, Zhao X, Yu Z, Denenberg EH, DeChene ET, Wilkens AB, Bhoj EJ, Guan Q, Dulik MC, Conlin LK, Abou Tayoun AN, et al. Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. The Journal of Molecular Diagnostics : Jmd. 21: 38-48. PMID 30577886 DOI: 10.1016/J.Jmoldx.2018.07.008  0.14
2019 Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, et al. Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30670880 DOI: 10.1038/s41436-019-0440-2  0.108
2023 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, ... ... Dulik MC, et al. Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield. The Journal of Pediatrics. 113620. PMID 37473993 DOI: 10.1016/j.jpeds.2023.113620  0.091
2023 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, ... ... Dulik MC, et al. Dominant-negative variants in CBX1 cause a neurodevelopmental disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100861. PMID 37087635 DOI: 10.1016/j.gim.2023.100861  0.086
2021 Gill EL, Patel K, Dickerson JA, Dulik MC, Grant RP, Heaney DL, Rudge JW. Alternative Sample Matrices Supporting Remote Sample Collection During the Pandemic and Beyond. Clinical Chemistry. PMID 34927671 DOI: 10.1093/clinchem/hvab257  0.044
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