January 01, 2026 article Open access Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases Genetics in Medicine Open DOI: 10.1016/j.gimo.2026.104394 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 0 stored of 0 References 3 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling 2020 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology TGF-β signaling in diseases Open access 70 citations Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration 2023 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access 43 citations Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 2024 npj Genomic Medicine article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access 4 citations 3 results