De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, William B. Dobyns, Diana Alcantara et al.|Nature Genetics|2012Cited by 752
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomalyQuentin Thomas, Giulia Barcia, Marialetizia Motta et al.|The American Journal of Human Genetics|2022Cited by 9