Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A. Cousin, Damaris N. Lorenzo|Nature Genetics|2021Cited by 107
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorderSukhleen Kour, Tim M. Strom, Jong‐Hee Chae et al.|Nature Communications|2021Cited by 52
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMargot A. Cousin, Davide Ognibene, Emma L. Veale et al.|Genome Medicine|2022Cited by 22
Additional file 2 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMargot A. Cousin, Davide Ognibene, Emma L. Veale et al.|Open MIND|2022Cited by 0