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Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.. European journal of human genetics : EJHG. 20(2):185-191.. 2012.
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.
Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.. PLoS genetics. 9(4):e1003415.. 2013.
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.
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.. American journal of human genetics. 93(4):744-51.. 2013.
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