Associated Papers
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
Gérard L et al.
European Journal of Human Genetics : Ejhg, 2025
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.
Vishnu VY et al.
European Journal of Human Genetics : Ejhg, 2024
Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea.
Lee JH et al.
Yonsei Medical Journal, 2021
Relating SMCHD1 structure to its function in epigenetic silencing.
Gurzau AD et al.
Biochemical Society Transactions, 2020
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.
Mul K et al.
Neurology, 2018
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.
Gurzau AD et al.
The Journal of Biological Chemistry, 2018
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
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Gordon CT et al.
Nature Genetics, 2017
The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain.
Chen K et al.
The Biochemical Journal, 2016
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
Savarese M et al.
Acta Neuropathologica Communications, 2014
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
Sacconi S et al.
American Journal of Human Genetics, 2013
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