Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disordersCarolina Gracia-Diaz, John C. Ambrose, Shazia Maqbool et al.|Nature Communications|2023Cited by 23
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJai Sidpra, Linda S. de Vries, Yoshiko Murakami et al.|Brain|2024Cited by 13
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (<i>PPP1R3F</i>) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic featuresZhigang Liu, Nick Sarn, James R. Lupski et al.|Human Molecular Genetics|2023Cited by 7
Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and TranscaucasiaRauan Kaiyrzhanov, Henry Houlden, Chingiz Shashkin et al.|Nature Genetics|2024Cited by 7