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Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.. Epigenetics : official journal of the DNA Methylation Society. 7(6):579-584.. 2012.
Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.. European journal of human genetics : EJHG.. 2015.
Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.. PLoS genetics. 9(4):e1003415.. 2013.
Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient: A Cellular Model for FSHD.. The American journal of pathology.. 2012.
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.. Nature genetics. 44(12):1370-4.. 2012.
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