De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, William B. Dobyns, Ghayda Mirzaa et al.|Nature Genetics|2012Cited by 752
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiencySvjetlana Lovric, Julie Désir, Sara Gonçalves et al.|Journal of Clinical Investigation|2017Cited by 208
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J. Kaiser, Sarah E. Noon, Morad Ansari et al.|Human Molecular Genetics|2014Cited by 151
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
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G. Biesecker, Yuri A. Zárate, Beth A. Kozel et al.|The American Journal of Human Genetics|2021Cited by 116