Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

Recent papers from Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

1. Dose-dependent efficacy of intravenous brincidofovir across adenovirus species in immunocompromised patientsJournal of Infection · 2026
2. A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case reportFrontiers in Genetics · 2026
3. Real-World Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis: A 24-Month Italian National Registry StudyJournal of Clinical Medicine · 2026
4. O38: Patient-centered, multidisciplinary, centralized, longitudinal clinical and genomic follow-up: Development and evaluation in the Undiagnosed Diseases Network (UDN)Genetics in Medicine Open · 2026
5. Protein palmitoylation and sphingolipid metabolism control regulated exocytosis in cytotoxic lymphocytesScience Immunology · 2025
6. Critical analysis of descriptive microRNA data in the translational research on cardioprotection and cardiac repair: lost in the complexity of bioinformaticsBasic Research in Cardiology · 2025
7. Next Generation Sequencing Based Gene Identification Techniques as a Diagnostic Approach For Patients with the CVID PhenotypeAsthma Allergy Immunology · 2025
8. LTβR deficiency causes lymph node aplasia and impaired B cell differentiationScience Immunology · 2024
9. Cyclin C promotes development and progression of B-cell acute lymphoblastic leukemia by counteracting p53-mediated stress responsesHaematologica · 2024
10. Portal hypertension and its prognostic implications in patients with Wilson's diseaseAlimentary Pharmacology & Therapeutics · 2024
11. Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 DeletionJournal of Clinical Immunology · 2024
12. Coordinated ARP2/3 and glycolytic activities regulate the morphological and functional fitness of human CD8+ T cellsCell Reports · 2024
13. TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability SyndromeNature Communications · 2024
14. Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview studyOrphanet Journal of Rare Diseases · 2024
15. A single‐center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease‐causing genotypesHemaSphere · 2024
16. Non-canonical BIM-regulated energy metabolism determines drug-induced liver necrosisCell Death and Differentiation · 2023
17. Proteomic Profiling of Advanced Melanoma Patients to Predict Therapeutic Response to Anti-PD-1 TherapyClinical Cancer Research · 2023
18. Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case ReportEndocrine Metabolic & Immune Disorders - Drug Targets · 2023
19. Lived experiences of genetic diagnosis for rare disease patients: A qualitative interview study2023
20. Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centreClinical & Experimental Immunology · 2023