Instituto de Investigación de Enfermedades Raras

Recent papers from Instituto de Investigación de Enfermedades Raras

1. DetERminants and impact of diagnostic delay in people living with a RD in Spain2026
2. Lipid droplet occurrence in human leukocytes of peripheral blood is higher in males with recent-onset psychosisScientific Reports · 2026
3. Spatial niche organization shapes clinical heterogeneity in Ewing sarcoma2026
4. Coronary atherosclerosis on coronary CT angiography in individuals with and without type 2 diabetesCardiovascular Diabetology · 2026
5. Fatty Acid Oxidation Disorders Detected by Newborn Screening: Clinical, Biochemical and Genetic Spectrum in a Single‐Center Cohort2026
6. Standards for practical management of drug hypersensitivity reactions to intravenous drugs and proactive early allergy involvement before referral: A WAO StatementWorld Allergy Organization Journal · 2026
7. A Mechanistic Map of the Phenotypic Complexity in Recessive Dystrophic Epidermolysis Bullosa Provides Basis for Therapeutic Target Discovery and Drug RepurposingInternational Journal of Molecular Sciences · 2026
8. Synthetic lethality in cancer: mechanisms, therapeutic exploitation and clinical translationSignal Transduction and Targeted Therapy · 2026
9. When Distress Goes Unseen: Mental Health Recognition Failures in Language-Discordant ConsultationsHealthcare · 2026
10. Metabolic alterations associated with cirrhosis after HCV cure in people with HIV: metabolomic and lipidomic findings at one and five yearsFrontiers in Immunology · 2026
11. Paired blood-skin transcriptomic profiling during dupilumab treatment of SPINK5-FLG-mutated Netherton syndromeCommunications Medicine · 2026
12. Pulmonary Vein Isolation Durability in a Randomized Trial comparing Fluoroscopy-only vs. Electroanatomic Mapping Strategies for Pulmonary Vein Isolation With Balloon-in-basket Pulsed-field AblationEP Europace · 2026
13. Experimental Workflows for the Accurate Identification of Mitochondrial Redox EventsRedox Biology · 2026
14. INPP5E interactome reveals novel connections to growth factor signalingCell Communication and Signaling · 2026
15. Clinical Variability and Genotype‐Driven Outcomes in CHRND ‐Related Congenital Myasthenic SyndromeEuropean Journal of Neurology · 2026
16. Polygenic Risk Modelling in Periodontitis: Insights From a Feasibility Study of 4243 European Cases and Current LimitationsJournal Of Clinical Periodontology · 2026
17. Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders.2026
18. Olfactory models as a platform for neuroscience researchFrontiers in Cellular Neuroscience · 2026
19. Stereodivergent Synthesis of C5‐α‐Substituted Linezolid Derivatives From D ‐Mannitol and Structure–Antibacterial Activity EvaluationChirality · 2026
20. The roadmap for the development of the Human Variome - Development of functional multi-omics analyses for the understanding of human biology2026