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Human Molecular Genetics|June 24, 2005
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle proteinNatalay Kouprina, Adam Pavlicek, N Keith Collins, et al.
Medrxiv : the Preprint Server for Health Sciences|October 4, 2023
Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder riskTaehwan Shin, Janet H T Song, Michael Kosicki, et al.
Cell Reports|December 28, 2017
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical DysplasiasAlissa M D'Gama, Mollie B Woodworth, Amer A Hossain, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 14, 2018
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic featuresRaida Khalil, Connor Kenny, R Sean Hill, et al.
Cell Genomics|July 17, 2024
Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder riskTaehwan Shin, Janet H T Song, Michael Kosicki, et al.
Biorxiv : the Preprint Server for Biology|March 17, 2025
Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathyGuanlan Dong, Chanthia C Ma, Shulin Mao, et al.
Nature Genetics|February 2, 2010
Mutations in PNKP cause microcephaly, seizures and defects in DNA repairJun Shen, Edward C Gilmore, Christine A Marshall, et al.
American Journal of Human Genetics|October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDaniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.
Schizophrenia Research|September 27, 2025
The burden of early onset psychosis: Diagnostic complexity, high comorbidity, and poor functioning in patients and their relativesJosephine Mollon, Nuria Lanzagorta, Samuel R Mathias, et al.
Nature Genetics|September 26, 2022
Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elementsLovelace J Luquette, Michael B Miller, Zinan Zhou, et al.
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