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
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D. Shaw, Tatiana Pineda Buitrago, Harrison Brand et al.|Nature Genetics|2017Cited by 162