November 17, 2017 article Open access ClinVar: improving access to variant interpretations and supporting evidence Nucleic Acids Research DOI: 10.1093/nar/gkx1153 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 57 stored of 4,632 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 An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants 2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 0 citations Substitution-induced allosteric activation of coagulation factor IX as a potential alternative hemophilia A treatment strategy 2026 Thrombosis Research article Medicine Hemophilia Treatment and Research Open access 0 citations Whole genome sequencing of endometrial cancer identifies novel subgroups, drivers, and actionable alterations 2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access 0 citations Finding novel vulnerabilities of hypomorphic BRCA1 alleles 2026 Molecular Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 0 citations Evaluation of single-nucleotide variants in bladder cancer using prediction algorithms 2025 Die Pathologie article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases 0 citations Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma 2025 npj Genomic Medicine article Medicine Glioma Diagnosis and Treatment Open access 5 citations POT1 genetic testing in melanoma-prone families in Sweden: germline variant prevalence and tumor spectrum in identified carriers 2025 Acta Oncologica article Medicine Cutaneous Melanoma Detection and Management Open access 2 citations Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization 2025 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 4 citations Carriers of SCN9A variants linked to inherited and acquired pain syndromes show no alteration in the prevalence of pain or analgesic usage in the UK Biobank cohort 2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access 2 citations ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature 2025 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 8 citations Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma 2025 medRxiv preprint Medicine Glioma Diagnosis and Treatment Open access 0 citations Learning molecular traits of human pain disease via voltage-gated sodium channel structure renormalization 2025 Computational and Structural Biotechnology Journal article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access 0 citations Learning molecular traits of human pain disease via voltage-gated sodium channel structure renormalization 2025 Computational and Structural Biotechnology Journal article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access 0 citations Systematic assessment of COVID-19 host genetics using whole genome sequencing data 2024 PLoS Pathogens article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access 1 citations A missense variant effect map for the human tumor-suppressor protein CHK2 2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 14 citations CaClust: linking genotype to transcriptional heterogeneity of follicular lymphoma using BCR and exomic variants 2024 Genome biology article Medicine Lymphoma Diagnosis and Treatment Open access 2 citations Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset 2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 8 citations Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 23 citations Saturation genome editing of BAP1 functionally classifies somatic and germline variants 2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 58 citations Whole genome sequencing in (recurrent) glioblastoma: challenges related to informed consent procedures and data sharing 2024 Acta Neurochirurgica article Medicine Ethics in Clinical Research Open access 3 citations 1–20 of 57 Page 1 / 3 Next → References 0