October 24, 2008 article Open access Genetic evidence and integration of various data sources for classifying uncertain variants into a single model Human Mutation DOI: 10.1002/humu.20897 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 6 stored of 188 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance 2025 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 1 citations Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel 2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 101 citations Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel 2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 6 citations A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2 2023 Human Mutation article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 8 citations Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach 2022 Human Mutation article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 9 citations Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome 2020 Genetics in Medicine article Medicine Genetic factors in colorectal cancer Open access cited by 2 patents 27 citations 6 results References 0