Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline MyopathyGianina Ravenscroft, Alan H. Beggs, Satoko Miyatake et al.|The American Journal of Human Genetics|2013Cited by 224
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue DisordersMasahiro Nakajima, Shiro Ikegawa, Hiroshi Kitoh et al.|The American Journal of Human Genetics|2013Cited by 138
<i>SMARCE1</i>, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional casesYuri A. Zárate, Samantha A. Schrier Vergano, Elizabeth Bhoj et al.|American Journal of Medical Genetics Part A|2016Cited by 23