Lauren Zec

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson et al. · The American Journal of Human Genetics · 2024 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Ryan J. Schmidt, Marcie Steeves, Pınar Bayrak‐Toydemir et al. · Genetics in Medicine · 2023 · 69 citations · Full text

Health Professions, Health Sciences, Epidemiology +8

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

Marcy E. Richardson, Megan Holdren, Terra Brannan et al. · The American Journal of Human Genetics · 2024 · 16 citations · Full text

Medicine, Genetics, Oncology +17