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 …

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

RK C Yuen, D Merico, M Bookman, JL Howe… - Nature …, 2017 - nature.com
We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …

[HTML][HTML] Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

HN Cukier, ND Dueker, SH Slifer, JM Lee… - Molecular autism, 2014 - Springer
Abstract Background Autism spectrum disorders (ASDs) comprise a range of
neurodevelopmental conditions of varying severity, characterized by marked qualitative …

[HTML][HTML] Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies

L Choi, JY An - Neuroscience & Biobehavioral Reviews, 2021 - Elsevier
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic
component. Recently developed genomic technologies, including microarray and next …

[HTML][HTML] Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism

G Ramaswami, H Won, MJ Gandal, J Haney… - Nature …, 2020 - nature.com
Autism spectrum disorder (ASD) is a phenotypically and genetically heterogeneous
neurodevelopmental disorder. Despite this heterogeneity, previous studies have shown …

[PDF][PDF] Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

Y Jiang, RKC Yuen, X Jin, M Wang, N Chen… - The American Journal of …, 2013 - cell.com
Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet
the genetic causes remain only partially understood as a result of extensive clinical and …

Autism genetics

AM Persico, V Napolioni - Behavioural brain research, 2013 - Elsevier
Autism spectrum disorder (ASD) is a severe neuropsychiatric disease with strong genetic
underpinnings. However, genetic contributions to autism are extremely heterogeneous, with …

The genetic landscape of autism spectrum disorders

RO Rosti, AA Sadek, KK Vaux… - … Medicine & Child …, 2014 - Wiley Online Library
Autism spectrum disorders (ASD s) are a group of heterogeneous neurodevelopmental
disorders that show impaired communication and socialization, restricted interests, and …

Genetic architecture in autism spectrum disorder

B Devlin, SW Scherer - Current opinion in genetics & development, 2012 - Elsevier
Autism spectrum disorder (ASD) is characterized by impairments in reciprocal social
interaction and communication, and by restricted and repetitive behaviors. Family studies …

[PDF][PDF] Genomic patterns of de novo mutation in simplex autism

TN Turner, BP Coe, DE Dickel, K Hoekzema… - Cell, 2017 - cell.com
To further our understanding of the genetic etiology of autism, we generated and analyzed
genome sequence data from 516 idiopathic autism families (2,064 individuals). This …