Biallelic variants in <i>SLC38A3</i> encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, James R. Lupski, Jawid M. Fatih et al.|Brain|2021Cited by 25
Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disordersReza Maroofian, Sinan Akbaş, Rauan Kaiyrzhanov et al.|Brain|2023Cited by 20
Homozygous missense <i>WIPI2</i> variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease courseReza Maroofian, Maha S. Zaki, Andrea Gubaš et al.|Brain Communications|2021Cited by 18
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
Novel loss-of-function variants expand <i>ABCC9</i>-related intellectual disability and myopathy syndromeStéphanie Efthymiou, Conor McClenaghan, Marcello Scala et al.|Brain|2024Cited by 12