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Epilepsia|June 16, 2022
The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commissionImad Najm, Dennis Lal, Mario Alonso Vanegas, et al.American Journal of Human Genetics|March 25, 2014
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresXiaochang Zhang, Jiqiang Ling, Giulia Barcia, et al.Cell Reports|November 15, 2025
Combined somatic mutation and transcriptome analysis reveals region-specific differences in clonal architecture in human cortexVinayak V Viswanadham, Sonia N Kim, Emre Caglayan, et al.Nature|November 11, 2016
Evolution of Osteocrin as an activity-regulated factor in the primate brainBulent Ataman, Gabriella L Boulting, David A Harmin, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2020
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survivalMichael E Coulter, Damir Musaev, Ellen M DeGennaro, et al.American Journal of Human Genetics|September 11, 2012
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndromeM Chiara Manzini, Dimira E Tambunan, R Sean Hill, et al.Human Mutation|October 26, 2017
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndromeAshley P L Marsh, Timothy J Edwards, Charles Galea, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humansCai Qi, Irena Feng, Ana Rita Costa, et al.Science (New York, N.Y.)|July 16, 2008
Identifying autism loci and genes by tracing recent shared ancestryEric M Morrow, Seung-Yun Yoo, Steven W Flavell, et al.Human Molecular Genetics|February 7, 2014
METTL23, a transcriptional partner of GABPA, is essential for human cognitionRachel E Reiff, Bassam R Ali, Byron Baron, et al.Pageof 34