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Neuron|September 25, 2015
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk LociStephan J Sanders, Xin He, A Jeremy Willsey, et al.
Neuron|January 29, 2013
Using whole-exome sequencing to identify inherited causes of autismTimothy W Yu, Maria H Chahrour, Michael E Coulter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signatureRichard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, et al.
Biorxiv : the Preprint Server for Biology|February 9, 2026
Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsySattar Khoshkhoo, Mingyun Bae, Yilan Wang, et al.
Brain : a Journal of Neurology|March 22, 2025
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migrationJordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
American Journal of Human Genetics|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Nature|July 3, 2025
The Somatic Mosaicism across Human Tissues NetworkTim H H Coorens, Ji Won Oh, Yujin Angelina Choi, et al.
Nature Neuroscience|April 5, 2022
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalusPhan Q Duy, Stefan C Weise, Claudia Marini, et al.
Neuron|June 11, 2011
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autismStephan J Sanders, A Gulhan Ercan-Sencicek, Vanessa Hus, et al.
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