Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Source
Genome research - ISSN 1088-9051-35:4 (2025) p. 755-768
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy
Source
Genetics in medicine - ISSN 1098-3600-27:6 (2025) p. 1-13
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Source
Nature medicine - ISSN 1078-8956-31 (2025) p. 478-489
RNA interference targeting small heat shock protein B8 failed to improve distal hereditary motor neuropathy in the mouse model
Source
Journal of gene medicine - ISSN 1099-498X-27:2 (2025) p. 1-18
TBP repeat expansion analysis in patients carrying heterozygous STUB1 variants
Source
Movement disorders: video, videotape supplements - ISSN 0885-3185- (2025) p.