Biallelic variants in <i>SLC38A3</i> encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, James R. Lupski, Matteo P. Ferla et al.|Brain|2021Cited by 25
Biallelic variants in <scp><i>ZNF142</i></scp> lead to a syndromic neurodevelopmental disorderMaria Bejerholm Christensen, Juliane Winkelmann, Amanda M. Levy et al.|Clinical Genetics|2022Cited by 16
Biallelic loss of <scp><i>EMC10</i></scp> leads to mild to severe intellectual disabilityRauan Kaiyrzhanov, Reza Maroofian, Clarissa Rocca et al.|Annals of Clinical and Translational Neurology|2022Cited by 16
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related EncephalopathyAngela Clara-Hwang, Stéphanie Efthymiou, Stefani Stefani et al.|Neurology Genetics|2024Cited by 7
Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and TranscaucasiaRauan Kaiyrzhanov, Henry Houlden, Nazira Zharkinbekova et al.|Nature Genetics|2024Cited by 7