Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Julie Vogt, Roland Christopher Lochore Aldridge et al.|Journal of Medical Genetics|2014Cited by 171
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyVandana Gupta, Alan H. Beggs, Gianina Ravenscroft et al.|The American Journal of Human Genetics|2013Cited by 164