Megan Holdren

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

Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain

Chunling Hu, Huaizhi Huang, Jie Na et al. · The American Journal of Human Genetics · 2024 · 16 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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