SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Angelo Selicorni, Marialetizia Motta et al.|The American Journal of Human Genetics|2021Cited by 90
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationDongxue Mao, Hugo J. Bellen, Chloe M. Reuter et al.|The American Journal of Human Genetics|2020Cited by 69
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorderPauline E. Schneeberger, Ashley Andrews, Fanny Kortüm et al.|Brain|2020Cited by 59
A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 MutationMaria Elena Sana, Maria Iascone|PLoS ONE|2016Cited by 10
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorderLot Snijders Blok, Tjitske Kleefstra, Jolijn Verseput et al.|Human Genetics and Genomics Advances|2022Cited by 10