Export 9 results:Author Title [ Year]
Filters: Keyword is Autism Spectrum Disorder [Clear All Filters]
DLG4-related synaptopathy: a new rare brain disorder. Genet Med 23, 888-899 (2021).
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med 22, 538-546 (2020).
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. Proc Natl Acad Sci U S A 117, 10055-10066 (2020).
Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes (Basel) 11, (2020).
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet 136, 377-386 (2017).
Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 174, 381-389 (2017).
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. Cell 167, 1481-1494.e18 (2016).