January 04, 2018 article Open access Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework Genetics in Medicine DOI: 10.1038/gim.2017.210 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 33 stored of 653 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 Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing 2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 10 citations Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies 2022 eLife article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 15 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 Minigene‐based splicing analysis and ACMG / AMP ‐based tentative classification of 56 ATM variants 2022 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 23 citations Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome 2022 Human Mutation article Medicine Genetic factors in colorectal cancer Open access 11 citations Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies 2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 0 citations Splicing predictions, minigene analyses, and ACMG ‐ AMP clinical classification of 42 germline PALB2 splice‐site variants 2021 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 24 citations Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel 2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 39 citations RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants 2021 Cancers article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 22 citations Stepwise ABC system for classification of any type of genetic variant 2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 2 patents 102 citations Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene 2020 Cancers article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 20 citations Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation 2020 Frontiers in Genetics article Medicine Genetic factors in colorectal cancer Open access 22 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 21–33 of 33 ← Previous Page 2 / 2 References 0