February 16, 2025 preprint Open access Leveraging next-generation phenotyping for ACMG classification from VUS to likely pathogenic in Mowat-Wilson syndrome medRxiv DOI: 10.1101/2025.02.12.25321927 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 0 stored of 0 References 3 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 GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 2023 medRxiv preprint Computer Science Face recognition and analysis Open access 25 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 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 3 results