December 13, 2018 article Identifying facial phenotypes of genetic disorders using deep learning Nature Medicine DOI: 10.1038/s41591-018-0279-0 OpenAlex Authors 0 Author list not loaded yet. Cited by 23 stored of 768 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 Bone2Gene: Next-generation Phenotyping of Rare Bone Diseases 2026 medRxiv preprint Medicine Artificial Intelligence in Healthcare and Education Open access 1 citations Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals 2025 Orphanet Journal of Rare Diseases article Medicine Artificial Intelligence in Healthcare and Education Open access 3 citations Kurze Wege zur Diagnose mit künstlicher Intelligenz – systematische Literaturrecherche zu „diagnostic decision support systems“ 2025 Zeitschrift für Pneumologie article Medicine Artificial Intelligence in Healthcare and Education 0 citations Syndromic retinitis pigmentosa 2024 Progress in Retinal and Eye Research article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 39 citations Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder 2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 7 citations GestaltMatcher Database - 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