August 14, 2024 article Open access How to customize common data models for rare diseases: an OMOP-based implementation and lessons learned Orphanet Journal of Rare Diseases DOI: 10.1186/s13023-024-03312-9 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 2 stored of 18 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 CDE-Mapper: Using retrieval-augmented language models for linking clinical data elements to controlled vocabularies 2025 Computers in Biology and Medicine article Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access 4 citations 2 results References 2 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 Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data 2022 Journal of Biomedical Semantics article Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access 48 citations Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries 2022 Orphanet Journal of Rare Diseases article Computer Science Research Data Management Practices Open access 41 citations 2 results