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
SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.
Šikrová D et al.
Communications Biology, 2023
37380887 (PubMed )
Supplement: 42003_2023_5053_MOESM2_ESM.pdf
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
SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.
Mason AG et al.
Skeletal Muscle, 2017
28587678 (PubMed )
Supplement: 13395_2017_129_MOESM1_ESM.pdf
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
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