Laura V. Milko

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan et al. · The American Journal of Human Genetics · 2017 · 536 citations · Full text

Clinical Genome Resource, Gene-disease Associations, Genome-wide Association Study +10

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

Jodie Ingles, Jennifer Goldstein, Courtney Thaxton et al. · Circulation Genomic and Precision Medicine · 2019 · 438 citations · Full text

Newborn Sequencing in Genomic Medicine and Public Health

Jonathan S. Berg, Pankaj B. Agrawal, Donald B. Bailey et al. · PEDIATRICS · 2017 · 231 citations · Full text

Sequencing, Neonatal Genomics, Newborn Screening +13

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

E. Andres Rivera-Munoz, Laura V. Milko, Steven M. Harrison et al. · Human Mutation · 2018 · 205 citations · Full text

Clinical Genome Resource, Engineering, Genetics +19

Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel

Jessica L. Mester, Rajarshi Ghosh, Tina Pesaran et al. · Human Mutation · 2018 · 165 citations · Full text

Gene‐specific Criteria, Genetics, Genetic Epidemiology +19