November 21, 2022 article Open access Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria The American Journal of Human Genetics DOI: 10.1016/j.ajhg.2022.10.013 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 13 stored of 603 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 Update on the recommendations of the expert panel on epilepsy and genetics of the German Society of Epileptology (DGfE). English version 2026 Clinical Epileptology article Medicine Epilepsy research and treatment 0 citations Update zu Empfehlungen des Expertenpanels Epilepsie und Genetik der Deutschen Gesellschaft für Epileptologie (DGfE) 2026 Clinical Epileptology article Medicine Epilepsy research and treatment Open access 1 citations Constitutional epimutations in LTBP4, a component of the TGF-β signaling, and in BRCA1, as potential drivers of early-onset colorectal cancer 2025 Clinical Epigenetics article Medicine Genetic factors in colorectal cancer Open access 2 citations Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants 2025 NAR Genomics and Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 2 citations Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification 2025 Nature Communications article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 11 citations Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants 2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 0 citations Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification 2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 3 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 Comparison of the ABC and ACMG systems for variant classification 2024 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 15 citations Novel Genetic and Biochemical Insights into the Spectrum of NEFL -Associated Phenotypes 2024 Journal of Neuromuscular Diseases article Neuroscience Hereditary Neurological Disorders Open access 10 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 Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel 2023 Genetics in Medicine article Medicine Genetic factors in colorectal cancer Open access 36 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 13 results References 0