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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.
Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.. Current opinion in neurology. 25(5):614-20.. 2012.
Loss of maternal CTCF is associated with peri-implantation lethality of Ctcf null embryos.. PloS one. 7(4):e34915.. 2012.
CTCF physically links cohesin to chromatin.. Proceedings of the National Academy of Sciences of the United States of America. 105(24):8309-14.. 2008.
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.
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.. PLoS genetics. 6(10):e1001181.. 2010.
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