Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne O’Donnell‐Luria, Kirsty McWalter, Lynn Pais et al.|The American Journal of Human Genetics|2019Cited by 99
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Angelo Selicorni, Joanne Baez et al.|The American Journal of Human Genetics|2021Cited by 90
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Paolo Moretti, Kirsty McWalter et al.|Genetics in Medicine|2020Cited by 49
Pathogenic variants in <i>SMARCA5</i> , a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Håkon Håkonarson, Qin Wang et al.|Science Advances|2021Cited by 32
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K. Sobering, Elizabeth Bhoj, Laura Bryant et al.|Human Genetics and Genomics Advances|2022Cited by 26