European Organisation for Rare Diseases

Recent papers from European Organisation for Rare Diseases

1. Occurrence, persistence and pathogenic potential of Bacillus cereus sensu lato strains isolated during processing of two plant-based dessertsFood Microbiology · 2026
2. Patient pathways for rare liver diseases: a European template developed by ERN RARE-LIVEROrphanet Journal of Rare Diseases · 2026
3. Deep molecular profiling of lung neuroendocrine tumours and supra-carcinoidsMolecular Cancer · 2026
4. Unveiling the depth of the knowledge gap in the Universe of Rare Diseases: the PLUTO missionOrphanet Journal of Rare Diseases · 2026
5. Quality of life in older patients with cancer and cancer survivors living in French nursing homesGeriatric Nursing · 2026
6. The roadmap for the development of the Human Variome - Development of functional multi-omics analyses for the understanding of human biology2026
7. Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22–24 January 2025Journal of Community Genetics · 2026
8. Timing and rate of reimbursement for cystic fibrosis modulator therapies in EU countriesJournal of Cystic Fibrosis · 2026
9. CMV Immune Dynamics Post Lung TransplantationAmerican Journal of Transplantation · 2026
10. Identifying barriers and policy priorities for rare disease research in underrepresented European countriesEuropean Journal of Public Health · 2026
11. Guidance on communication and informed consent with patients and their families for experimental individualized treatmentsThe American Journal of Human Genetics · 2026
12. Clinical, Electrophysiological, and Neuropathological Features of Peripheral Neuropathies in People With T-Cell Lymphoproliferative DisorderNeurology · 2026
13. Adapting CBT-E for the Middle East: addressing regional gaps in eating-disorder treatmentFrontiers in Psychiatry · 2026
14. Enhanced Manganese Uptake by BTCA‐Functionalized Lignocellulosic FeltsChemistrySelect · 2026
15. Expanding the phenotypic spectrum of Xq28 duplication involving MECP2: a familial case reportSHILAP Revista de lepidopterología · 2026
16. Review: Additives delivery through drinking water to support gut health in swine and poultry — a systematic literature reviewanimal · 2026
17. Translating multi-omics into healthcare: requisites for scalable and equitable implementationHuman Genomics · 2026
18. Evaluation of the methodology of independent Community Advisory Boards in health products research and development: a mixed-methods cross-sectional survey studyResearch Involvement and Engagement · 2026
19. The gut microbiota metabolite isovalerate enhances the epithelial barrier function in cell monolayers derived from porcine ileum organoidsAJP Gastrointestinal and Liver Physiology · 2026
20. Cancer Prevention Literacy Questionnaire (CPL-Q): development and validation within the World Code Against Cancer FrameworkBMC Public Health · 2026