Associated Papers
Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing.
Butterfield RJ et al.
Genome Research, 2023
37798116 (PubMed )
Supplement: Supplemental_Tables.xlsx › Table_S1
Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing.
Butterfield RJ et al.
Biorxiv : the Preprint Server for Biology, 2023
36824722 (PubMed )
Supplement: media-1.xlsx › Table_S1
Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans.
Wang CY et al.
Genetics, 2019
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
Larsen M et al.
European Journal of Human Genetics : Ejhg, 2015
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Lemmers RJ et al.
Nature Genetics, 2012
Select a paper to view details