August 04, 2020 article Open access Interpretable Clinical Genomics with a Likelihood Ratio Paradigm The American Journal of Human Genetics DOI: 10.1016/j.ajhg.2020.06.021 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 5 stored of 118 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 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 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 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 GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine 2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access 14 citations 5 results References 0