Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystoniaKarin Tuschl, Stephen W. Wilson, Esther Meyer et al.|Nature Communications|2016Cited by 326
Rare variants in <i>SOS2</i> and <i>LZTR1</i> are associated with Noonan syndromeGuilherme Lopes Yamamoto, Débora Romeo Bertola, Somayyeh Fahiminiya et al.|Journal of Medical Genetics|2015Cited by 245
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypesLina Liang, Qing K. Wang, Xia Li et al.|Human Molecular Genetics|2019Cited by 91
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding regionMcKenna Kelly, Annapurna Poduri, Meredith Park et al.|Epilepsia|2019Cited by 76
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental DisorderRaphaël Carapito, Jocelyn Céraline, Ekaterina L. Ivanova et al.|The American Journal of Human Genetics|2019Cited by 69