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Neuron|August 28, 2018
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor DevelopmentRichard S Smith, Connor J Kenny, Vijay Ganesh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.
The New England Journal of Medicine|August 21, 2014
Somatic mutations in cerebral cortical malformationsSaumya S Jamuar, Anh-Thu N Lam, Martin Kircher, et al.
Acta Neuropathologica|March 9, 2017
Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementiaJennifer S Yokoyama, Celeste M Karch, Chun C Fan, et al.
Genome Research|June 21, 2017
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndromeGilad D Evrony, Dwight R Cordero, Jun Shen, et al.
Annals of Neurology|June 10, 2019
Autism and developmental disability caused by KCNQ3 gain-of-function variantsTristan T Sands, Francesco Miceli, Gaetan Lesca, et al.
JAMA Neurology|July 24, 2023
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in PolymicrogyriaShyam K Akula, Allen Y Chen, Jennifer E Neil, et al.
American Journal of Medical Genetics. Part A|July 2, 2013
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypesCynthia J Curry, Jill A Rosenfeld, Erica Grant, et al.
Human Mutation|November 12, 2014
Variants in CUL4B are associated with cerebral malformationsAnneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, 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.
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