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Journal of the American Heart Association|July 3, 2024
Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic IndividualsMing Hui Chen, Ellen S Deng, Jessica M Yamada, et al.Nature Structural Biology|April 15, 2003
The DCX-domain tandems of doublecortin and doublecortin-like kinaseMyung Hee Kim, Tomasz Cierpicki, Urszula Derewenda, et al.European Journal of Medical Genetics|March 4, 2017
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophyShenela Lakhani, Ryan Doan, Mariam Almureikhi, et al.American Journal of Human Genetics|February 15, 2002
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21Xianhua Piao, Lina Basel-Vanagaite, Rachel Straussberg, et al.Brain : a Journal of Neurology|February 3, 2026
ARX mutation-associated interneuron defects provide insights into mechanisms underlying developmental epilepsiesYoungshin Lim, Shyam K Akula, Abigail K Myers, et al.Biorxiv : the Preprint Server for Biology|February 3, 2025
Autism-Associated Genes and Neighboring lncRNAs Converge on Key Gene Regulatory NetworksRebecca E Andersen, Maya Talukdar, Tyler Sakamoto, et al.Science (New York, N.Y.)|March 19, 2021
Landmarks of human embryonic development inscribed in somatic mutationsSara Bizzotto, Yanmei Dou, Javier Ganz, et al.Biorxiv : the Preprint Server for Biology|November 14, 2023
BRN1/2 Function in Neocortical Size Determination and MicrocephalySoraia Barão, Yijun Xu, José P Llongueras, et al.Nature Neuroscience|January 12, 2021
Large mosaic copy number variations confer autism riskMaxwell A Sherman, Rachel E Rodin, Giulio Genovese, et al.Nature Communications|October 7, 2022
Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disordersJunho Kim, August Yue Huang, Shelby L Johnson, et al.Pageof 34