April 20, 2025 preprint Open access An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser medRxiv DOI: 10.1101/2025.04.18.25326061 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 0 stored of 2 References 1 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 The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases 2022 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 60 citations 1 result