Hereditary Disease Foundation

Recent papers from Hereditary Disease Foundation

1. The Role of the Surgical Pathologist in the Recognition of Hereditary Neuroendocrine TumorsAdvances in Anatomic Pathology · 2026
2. Clinical Development of Therapies for Charcot–Marie–Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory PathwaysJournal of the Peripheral Nervous System · 2026
3. Genomic Testing Uptake Among Medicare Beneficiaries With CancerJAMA Network Open · 2026
4. Exploratory analysis of genetic variation, clinical activity score, and lanadelumab response in two families with hereditary angioedema due to C1-inhibitor esterase deficiencyRevista română de medicină de laborator · 2026
5. How we diagnose and treat hereditary transthyretin-mediated amyloidosis with polyneuropathy in the Balkan region: an expert opinionFrontiers in Neurology · 2026
6. Development and feasibility testing of a conversational chatbot supporting genetic education and testing for hereditary cancerJournal of Community Genetics · 2026
7. Microbial dynamics in gastric cancer: insights from full-length 16S rRNA nanopore sequencing in the MAGIC cohortFrontiers in Microbiology · 2026
8. Influencing Factors and Early Warning Indicators for Nonvertebral Fractures in Patients with Duchenne Muscular DystrophyJBMR Plus · 2026
9. Sebetralstat for breakthrough attacks in patients with hereditary angioedema receiving long-term prophylaxis in KONFIDENT-SJournal of Allergy and Clinical Immunology Global · 2026
10. The miR-30c-5p/SOCS3 axis is a potential driver of inflammation and metabolic imbalance in Duchenne muscular dystrophyFrontiers in Cell and Developmental Biology · 2026
11. Hyperbaric Oxygen Therapy in Sickle Cell Disease: A Narrative Review of Mechanisms, Clinical Applications, and Future DirectionsHemoglobin · 2026
12. Predicting maize hybrid performance with machine learning and a locus-specific weighted degree of dominance transformationFrontiers in Plant Science · 2026
13. Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registryGenetics in Medicine · 2026
14. Case Report: A combination of CHEK2 and high polygenic risk score leads to early-onset male breast cancerFrontiers in Oncology · 2026
15. Marfan Before Marfan? Iconodiagnostic Analysis of a Possible Marfan Spectrum Phenotype in an Etruscan Sculpture.2026
16. Effect of Recombinant Tissue-Type Plasminogen Activator on Peripheral Blood Mononuclear Cells of Patients With Alteplase-Associated AngioedemaJournal of Investigational Allergology and Clinical Immunology · 2026
17. Physics-Guided Deep Learning for Radar Rainfall Nowcasting in Flash-Flood Early Warning: Lead-Time Skill and an Illustrative Utility ProxyNatural Hazards Research · 2026
18. International Guideline on the Diagnosis and Management of Pediatric Patients With Hereditary AngioedemaAllergy · 2026
19. Alteplase and Angioedema: Can Clinical Exome Sequencing Redefine the Paradigm?Life · 2026
20. WW Domain‐Binding Protein 2 Aggravates Neointimal Hyperplasia by Promoting Y‐Box Binding Protein 1 Nuclear TranslocationThe FASEB Journal · 2026