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Author Details

Matthew C Dulik
Children's Hospital of Philadelphia, University of Pennsylvania
2008
35
20
PMIDPaper TitleJournal TitlePublished Year
37473993Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.J Pediatr2023
37087635Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.Genet Med2023
34927671Alternative Sample Matrices Supporting Remote Sample Collection during the Pandemic and Beyond.Clin Chem2022
35065284Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?J Mol Diagn2022
34969639Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.Mol Genet Metab2022
32906214Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.Hum Mutat2020
32733828Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution.Front Pediatr2020
30670880Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.Genet Med2019
31479473Mitochondrial 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 One2019
30577886Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.J Mol Diagn2019
30287922Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.Genet Med2019
28960434Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.Am J Hematol2018
30133189Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.Mol Genet Genomic Med2018
29907799Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.Genet Med2018
29595809AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.Genet Med2018
27181684Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Am J Hum Genet2016
27392081Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Am J Hum Genet2016
25730767Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.Nat Genet2015
26187847Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.Hum Genomics2015
25637381Actionable exomic incidental findings in 6503 participants: challenges of variant classification.Genome Res2015
25047600Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.BMC Bioinformatics2014
23077985TNF promoter SNP variation in Amerindians and white-admixed women from Misiones, Argentina.Int J Immunogenet2013
24040292Genetic background and climatic droplet keratopathy incidence in a Mapuche population from Argentina.PLoS One2013
24195999Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.Genet Med2013
22281367Mitochondrial DNA and Y chromosome variation provides evidence for a recent common ancestry between Native Americans and Indigenous Altaians.Am J Hum Genet2012
22586127Y-chromosome analysis reveals genetic divergence and new founding native lineages in Athapaskan- and Eskimoan-speaking populations.Proc Natl Acad Sci U S A2012
22549307Clan, language, and migration history has shaped genetic diversity in Haida and Tlingit populations from Southeast Alaska.Am J Phys Anthropol2012
21253579Dissecting the within-Africa ancestry of populations of African descent in the Americas.PLoS One2011
21994016Genetic ancestry and indigenous heritage in a Native American descendant community in Bermuda.Am J Phys Anthropol2011
22011106Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.BMC Bioinformatics2011
21412412Y-chromosome variation in Altaian Kazakhs reveals a common paternal gene pool for Kazakhs and the influence of Mongolian expansions.PLoS One2011
20229500Genetic heritage and native identity of the Seaconke Wampanoag tribe of Massachusetts.Am J Phys Anthropol2010
19946364Evaluation of group genetic ancestry of populations from Philadelphia and Dakar in the context of sex-biased admixture in the Americas.PLoS One2009
18322915Genetic variation in the enigmatic Altaian Kazakhs of South-Central Russia: insights into Turkic population history.Am J Phys Anthropol2008
19130794Russian Old Believers: genetic consequences of their persecution and exile, as shown by mitochondrial DNA evidence.Hum Biol2008
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Collaborators

Children's Hospital of Philadelphia
Co-authored papers 13
The Perelman School of Medicine at the University of Pennsylvania
Co-authored papers 11
University of California San Francisco
Co-authored papers 9
Children's Hospital of Philadelphia
Co-authored papers 9
University of Washington Medical Center
Co-authored papers 7
Illumina Inc.
Co-authored papers 7
The Broad Institute of MIT and Harvard
Co-authored papers 7
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 6
Oregon Health & Science University (OHSU)
Co-authored papers 6
University of North Carolina
Co-authored papers 6
Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 6
Washington University School of Medicine
Co-authored papers 5
Baylor College of Medicine
Co-authored papers 5
Children's Hospital of Philadelphia
Co-authored papers 5
Brigham and Women's Hospital, USA Harvard Medical School
Co-authored papers 5
HudsonAlpha Institute for Biotechnology
Co-authored papers 5
Co-authored papers 5
Baylor College of Medicine
Co-authored papers 4
University of Washington School of Medicine.
Co-authored papers 4
University of Washington Medical Center
Co-authored papers 4
Center for Precision Health Research, National Human Genome Research Institute
Co-authored papers 4
Children's Hospital of Philadelphia
Co-authored papers 3
Center for Health Research, Kaiser Permanente Northwest
Co-authored papers 3
Children's Hospital of Philadelphia
Co-authored papers 3
Co-authored papers 3
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
Kaiser Permanente Center for Health Research
Co-authored papers 3
University of Washington
Co-authored papers 3
USA Autism and Developmental Medicine Institute
Co-authored papers 3
Institute for Health Metrics and Evaluation, University of Washington
Co-authored papers 3