Orphanet

Recent papers from Orphanet

1. Unveiling the depth of the knowledge gap in the Universe of Rare Diseases: the PLUTO missionOrphanet Journal of Rare Diseases · 2026
2. The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative AnalysisJMIR Medical Informatics · 2026
3. Coding systems and monitoring practices across the ERN ReCONNET: insights from a comprehensive survey and unmet needsOrphanet Journal of Rare Diseases · 2026
4. The Orphanet Nomenclature of rare diseases: a standard terminology for improved patient recognition and data interoperability2025
5. Revised Orphanet nomenclature and classification for spina bifida and other spinal dysraphisms (SBoD)Orphanet Journal of Rare Diseases · 2025
6. The European joint programme on rare diseases: building the rare diseases research ecosystemRare Disease and Orphan Drugs Journal · 2024
7. Genome-Wide Linkage and Association of Novel Genes and Pathways with Type 2 Diabetes in Italian FamiliesAspects of Molecular Medicine · 2024
8. Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE projectOrphanet Journal of Rare Diseases · 2024
9. An interconnected data infrastructure to support large-scale rare disease researchGigaScience · 2024
10. A unified data infrastructure to support large-scale rare disease research2023
11. LD block disorder-specific pleiotropic roles of novel CRHR1 in type 2 diabetes and depression disorder comorbidityEuropean Archives of Psychiatry and Clinical Neuroscience · 2023
12. The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndromeJournal of Ovarian Research · 2023
13. Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanismsGenetics in Medicine · 2023
14. Building Expertise on FAIR Through Evolving Bring Your Own Data (BYOD) Workshops: Describing the Data, Software, and Management-focused Approaches and Their EvolutionData Intelligence · 2023
15. Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological reportEuropean Journal of Human Genetics · 2023
16. The Human Phenotype Ontology in 2024: phenotypes around the worldNucleic Acids Research · 2023
17. The Swiss Rare Disease Registry: A National Research Platform2023
18. ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparabilityOrphanet Journal of Rare Diseases · 2023
19. Linkage and association of variants in the dopamine receptor 2 gene (DRD2) with polycystic ovary syndromeJournal of Ovarian Research · 2023
20. Novel corticotropin-releasing hormone receptor genes (CRHR1 and CRHR2) linkage to and association with polycystic ovary syndromeJournal of Ovarian Research · 2023