May 01, 2013 article Open access Identifying Mendelian disease genes with the Variant Effect Scoring Tool BMC Genomics DOI: 10.1186/1471-2164-14-s3-s3 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 9 stored of 622 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 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 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 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 Deep structured learning for variant prioritization in Mendelian diseases 2023 Nature Communications article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 46 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 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 Coding and regulatory variants are associated with serum protein levels and disease 2022 Nature Communications article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access 55 citations Coding and regulatory variants affect serum protein levels and common disease 2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access 9 citations 9 results References 0