April 24, 2025 article Open access Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics EBioMedicine DOI: 10.1016/j.ebiom.2025.105677 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 0 stored of 9 References 7 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 Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 2021 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access 155 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 Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature 2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 73 citations 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 PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals 2023 Frontiers in Cell and Developmental Biology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 24 citations The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant 2023 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 23 citations Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence 2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 18 citations 7 results