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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.
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.. American journal of human genetics. 98(5):1020-9.. 2016.
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.
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.. Human molecular genetics.. 2014.
DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.. PLoS genetics. 9(11):e1003947.. 2013.
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