July 07, 2021 article Open access Optical genome mapping enables constitutional chromosomal aberration detection The American Journal of Human Genetics DOI: 10.1016/j.ajhg.2021.05.012 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 2 stored of 265 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 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 Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives 2022 Endocrine Connections article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 5 citations 2 results References 0