Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi SyndromeJoy Armistead, Barbara L. Triggs‐Raine, Nehal Patel et al.|The American Journal of Human Genetics|2009Cited by 128
GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough SyndromeDan Doherty, Teresa Zelinski, Albert E. Chudley et al.|The American Journal of Human Genetics|2012Cited by 124