June 04, 2019 article Open access PEDIA: prioritization of exome data by image analysis Genetics in Medicine DOI: 10.1038/s41436-019-0566-2 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 9 stored of 91 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 Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges 2024 Frontiers in Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 5 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 Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study 2024 Journal of Medical Internet Research article Computer Science Face recognition and analysis Open access 18 citations PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework 2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 1 patent 82 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 A diagnostic support system based on pain drawings: binary and k-disease classification of EDS, GBS, FSHD, PROMM, and a control group with Pain2D 2023 Orphanet Journal of Rare Diseases article Health Professions Artificial Intelligence in Healthcare Open access 3 citations PhenoScore: AI-based phenomics to quantify rare disease and genetic variation 2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 6 citations The case for open science: rare diseases 2020 JAMIA Open article Computer Science Research Data Management Practices Open access 63 citations 9 results References 0