April 16, 2020 article Open access VarFish: comprehensive DNA variant analysis for diagnostics and research Nucleic Acids Research DOI: 10.1093/nar/gkaa241 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 6 stored of 80 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 Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings 2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 56 citations Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis 2024 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 3 citations Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings 2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 15 citations Genetic pain loss disorders 2022 Nature Reviews Disease Primers review Neuroscience Hereditary Neurological Disorders Open access cited by 2 patents 60 citations FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research 2022 Scientific Data data-paper Computer Science Research Data Management Practices Open access 32 citations Genome sequencing in families with congenital limb malformations 2021 Human Genetics article Biochemistry, Genetics and Molecular Biology Congenital limb and hand anomalies Open access 26 citations 6 results References 0