Lisa M. Vincent

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Melissa Kelly, Colleen Caleshu, Ana Morales et al. · Genetics in Medicine · 2018 · 371 citations · Full text

Life Sciences, Cardiology, Genetics +16

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins et al. · The American Journal of Human Genetics · 2023 · 305 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +14

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

Steven M. Harrison, Jill S. Dolinsky, Amy E. Knight Johnson et al. · Genetics in Medicine · 2017 · 251 citations · Full text

Life Sciences, Bioinformatics, Genetics +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 · 219 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

Bruce D. Gelb, Hélène Cavé, Mitchell W. Dillon et al. · Genetics in Medicine · 2018 · 174 citations · Full text

Life Sciences, Genetics, Human Genetics +14