<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
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, John Christodoulou, Solveig Heide et al.|Nature Genetics|2025Cited by 41
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C. Dworschak, Roy N. Alcalay, Jaya Punetha et al.|Genetics in Medicine|2021Cited by 38
De Novo Missense Variants in <scp> <i>SLC32A1</i> </scp> Cause a Developmental and Epileptic Encephalopathy Due to Impaired <scp>GABAergic</scp> NeurotransmissionKonrad Platzer, Sonja M. Wojcik, Heinrich Sticht et al.|Annals of Neurology|2022Cited by 23
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcificationsErik Rosenhahn, Konrad Platzer, Thomas O’Brien et al.|The American Journal of Human Genetics|2022Cited by 17