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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.
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.
A unifying genetic model for facioscapulohumeral muscular dystrophy.. Science (New York, N.Y.). 329(5999):1650-3.. 2010.
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.
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.. PLoS genetics. 6(10):e1001181.. 2010.
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.. Human molecular genetics. 18(13):2414-30.. 2009.
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.. Human molecular genetics.. 2014.
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