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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.European Journal of Human Genetics : EJHG|January 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorderCéline Jost, Tiffany Busa, Daniel Wegner, et al.Molecular Psychiatry|February 18, 2021
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypesCatherine A Brownstein, Richard S Smith, Lance H Rodan, et al.Epilepsia|May 5, 2021
Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trialIngmar Blümcke, Roland Coras, Robyn M Busch, et al.Developmental Cell|October 13, 2022
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosisXuyu Qian, Ellen M DeGennaro, Maya Talukdar, 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.Cell|April 22, 2026
Somatic cancer variants enriched in Alzheimer's disease microglia-like cells drive inflammatory and proliferative statesAugust Yue Huang, Zinan Zhou, Maya Talukdar, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 15, 2010
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disordersMichael S L Ching, Yiping Shen, Wen-Hann Tan, et al.Pediatrics|March 17, 2010
Clinical genetic testing for patients with autism spectrum disordersYiping Shen, Kira A Dies, Ingrid A Holm, et al.Pageof 34