<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspectsKonrad Platzer, Anna-Elina Lehesjoki, Hongjie Yuan et al.|Journal of Medical Genetics|2017Cited by 254
SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman SyndromeGregor D. Gilfillan, Petter Strømme, Thore Egeland et al.|The American Journal of Human Genetics|2008Cited by 236
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeSusanne Roosing, Joseph G. Gleeson, Matan Hofree et al.|eLife|2015Cited by 122
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individualsKen Saida, Esma Şengenç, Reza Maroofian et al.|Genetics in Medicine|2022Cited by 39