a public good project by the
Synthesis
Company
of California

© 2026

Matthew C. Dulik | doi.page

0 works0 citations0 h-index

Matthew C. Dulik

Children's Hospital of Philadelphia(US)University of Pennsylvania(US)Philadelphia University(US)

Publications by Year

Research Areas

Genomics and Rare Diseases, Forensic and Genetic Research, Genomic variations and chromosomal abnormalities, Genetic diversity and population structure, Mitochondrial Function and Pathology

Most-Cited Works

→ Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium(2016)573 cited
→ Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between(2014)374 cited
→ Actionable exomic incidental findings in 6503 participants: challenges of variant classification(2015)360 cited
→ Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans(2013)228 cited
→ Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation(2020)175 cited
→ Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians(2012)162 cited

→ Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study(2018)

159 cited

→ Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin(2015)146 cited

→ Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity(2017)117 cited