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] The changing epidemiology of autism spectrum disorders

K Lyall, L Croen, J Daniels, MD Fallin…�- Annual review of�…, 2017 - annualreviews.org
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with lifelong
impacts. Genetic and environmental factors contribute to ASD etiology, which remains�…

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�…

[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�…

[HTML][HTML] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

FK Satterstrom, JA Kosmicki, J Wang, MS Breen…�- Cell, 2020 - cell.com
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to�…

Synaptic, transcriptional and chromatin genes disrupted in autism

S De Rubeis, X He, AP Goldberg, CS Poultney…�- Nature, 2014 - nature.com
The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we�…

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�…

Heritability of autism spectrum disorders: a meta‐analysis of twin studies

B Tick, P Bolton, F Happ�, M Rutter…�- Journal of Child�…, 2016 - Wiley Online Library
Background The etiology of Autism Spectrum Disorder (ASD) has been recently debated
due to emerging findings on the importance of shared environmental influences. However�…

[HTML][HTML] Environmental risk factors for autism: an evidence-based review of systematic reviews and meta-analyses

A Modabbernia, E Velthorst, A Reichenberg�- Molecular autism, 2017 - Springer
Background According to recent evidence, up to 40–50% of variance in autism spectrum
disorder (ASD) liability might be determined by environmental factors. In the present paper�…

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

MJ Gandal, JR Haney, NN Parikshak, V Leppa…�- Science, 2018 - science.org
The predisposition to neuropsychiatric disease involves a complex, polygenic, and
pleiotropic genetic architecture. However, little is known about how genetic variants impart�…