April 13, 2012 article Open access Deep phenotyping for precision medicine Human Mutation DOI: 10.1002/humu.22080 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 5 stored of 491 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 RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets 2025 npj Genomic Medicine article Health Professions Electronic Health Records Systems Open access 4 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 NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome 2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 20 citations ACO2 clinicobiological dataset with extensive phenotype ontology annotation 2021 Scientific Data data-paper Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 8 citations BioHackathon 2015: Semantics of data for life sciences and reproducible research 2020 F1000Research article Computer Science Research Data Management Practices Open access 6 citations 5 results References 0