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Brain : a Journal of Neurology|October 4, 2021
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, et al.Nature Genetics|April 8, 2015
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionNaiara Akizu, Vincent Cantagrel, Maha S Zaki, et al.American Journal of Human Genetics|July 13, 2022
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcificationsErik Rosenhahn, Thomas J O'Brien, Maha S Zaki, et al.Brain Communications|October 5, 2023
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomaliesAndrea Accogli, Maha S Zaki, Mohammed Al-Owain, et al.Nature Genetics|January 12, 2023
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical developmentChanguk Chung, Xiaoxu Yang, Taejeong Bae, et al.Science (New York, N.Y.)|February 1, 2014
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersGaia Novarino, Ali G Fenstermaker, Maha S Zaki, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.Nature Genetics|January 25, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumErica E Davis, Qi Zhang, Qin Liu, et al.American Journal of Human Genetics|September 3, 2019
Redefining the Etiologic Landscape of Cerebellar MalformationsKimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.Genome Biology|March 30, 2021
Comprehensive identification of somatic nucleotide variants in human brain tissueYifan Wang, Taejeong Bae, Jeremy Thorpe, et al.Pageof 31