Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang… - Nature Reviews …, 2022 - nature.com
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

[HTML][HTML] Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders

PF Sullivan, DH Geschwind - Cell, 2019 - cell.com
Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins… - Nature …, 2022 - nature.com
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …

[HTML][HTML] Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

X Zhou, P Feliciano, C Shu, T Wang, I Astrovskaya… - Nature …, 2022 - nature.com
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …

Genomic architecture of autism from comprehensive whole-genome sequence annotation

B Trost, B Thiruvahindrapuram, AJS Chan… - Cell, 2022 - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …

Molecular and network-level mechanisms explaining individual differences in autism spectrum disorder

AM Buch, PE Vértes, J Seidlitz, SH Kim… - Nature …, 2023 - nature.com
The mechanisms underlying phenotypic heterogeneity in autism spectrum disorder (ASD)
are not well understood. Using a large neuroimaging dataset, we identified three latent …

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

Motor impairment increases in children with autism spectrum disorder as a function of social communication, cognitive and functional impairment, repetitive behavior …

AN Bhat - Autism research, 2021 - Wiley Online Library
Eighty‐seven percent of a large sample of children with autism spectrum disorder (ASD) are
at risk for motor impairment (Bhat, Physical Therapy, 2020, 100, 633–644). In spite of the …

[HTML][HTML] Big data approaches to decomposing heterogeneity across the autism spectrum

MV Lombardo, MC Lai, S Baron-Cohen - Molecular psychiatry, 2019 - nature.com
Autism is a diagnostic label based on behavior. While the diagnostic criteria attempt to
maximize clinical consensus, it also masks a wide degree of heterogeneity between and …

Recent ultra-rare inherited variants implicate new autism candidate risk genes

AB Wilfert, TN Turner, SC Murali, PH Hsieh… - Nature …, 2021 - nature.com
Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families …