The Homeobox Transcription Factor RHOX10 Drives Mouse Spermatogonial Stem Cell Establishment
2016 · Cell Reports · 74 citations
https://doi.org/10.1016/j.celrep.2016.08.090
M
Marcy E. Richardson
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Marcy E. Richardson is an academic researcher from Ambry Genetics (United States). The author has contributed to research in topics: BRCA gene mutations in cancer & Genomics and Rare Diseases & Genetic factors in colorectal cancer. The author has an h-index of 19, co-authored 142 publications.
ORCID: 0000-0002-4626-4920Papers by this author
worksFunctional evaluation and clinical classification of BRCA2 variants
2025 · Nature · 41 citations
https://doi.org/10.1038/s41586-024-08388-8
ENIGMA <i>CHEK2</i> gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
2023 · Clinical Cancer Research · 30 citations
https://doi.org/10.1158/1078-0432.ccr-23-0212
Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance
2020 · Genetics in Medicine · 29 citations
https://doi.org/10.1038/s41436-020-00991-0
Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing
2024 · npj Precision Oncology · 15 citations
https://doi.org/10.1038/s41698-024-00741-4
Clinical, splicing, and functional analysis to classify <i>BRCA2</i> exon 3 variants: Application of a points‐based ACMG/AMP approach
2022 · Human Mutation · 10 citations
https://doi.org/10.1002/humu.24449
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