November 26, 2025 article Open access Splicing Predictions, Splicing Assays, and Variant Classification Using ACMG/AMP Guidelines: Challenges Observed with BRCA1 and BRCA2 Variants Clinical Chemistry DOI: 10.1093/clinchem/hvaf177 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 0 stored of 2 References 5 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-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 HGVS Nomenclature 2024: improvements to community engagement, usability, and computability 2024 Genome Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 65 citations Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2 2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 40 citations Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12 2020 Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer 34 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 5 results