Autism spectrum disorder: insights into convergent mechanisms from transcriptomics

M Quesnel-Vallières, RJ Weatheritt, SP Cordes… - Nature Reviews …, 2019 - nature.com
Heredity has a major role in autism spectrum disorder (ASD), yet underlying causal genetic
variants have been defined only in a fairly small subset of cases. The enormous genetic …

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 …

Autism spectrum disorders: from genes to neurobiology

AJ Willsey, MW State - Current opinion in neurobiology, 2015 - Elsevier
Highlights•High throughput genomic methods are rapidly increasing the pool of ASD
genes.•Heterogeneity, pleiotropy, and brain complexity complicate translation to …

Gene expression studies in autism: moving from the genome to the transcriptome and beyond

I Voineagu - Neurobiology of disease, 2012 - Elsevier
Autism is a clinically and genetically heterogeneous neurodevelopmental disorder. Although
multiple genes, risk alleles and copy number variants (CNVs) have been implicated in ASD …

Genetic heterogeneity in autism: From single gene to a pathway perspective

JY An, C Claudianos - Neuroscience & Biobehavioral Reviews, 2016 - Elsevier
The extreme genetic heterogeneity of autism spectrum disorder (ASD) represents a major
challenge. Recent advances in genetic screening and systems biology approaches have …

Advancing the understanding of autism disease mechanisms through genetics

L de la Torre-Ubieta, H Won, JL Stein… - Nature medicine, 2016 - nature.com
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …

The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders

JD Buxbaum, MJ Daly, B Devlin, T Lehner, K Roeder - Neuron, 2012 - cell.com
Research during the past decade has seen significant progress in the understanding of the
genetic architecture of autism spectrum disorders (ASDs), with gene discovery accelerating …

[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 …

Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism

NN Parikshak, V Swarup, TG Belgard, M Irimia… - Nature, 2016 - nature.com
Autism spectrum disorder (ASD) involves substantial genetic contributions. These
contributions are profoundly heterogeneous but may converge on common pathways that …

New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders

M Moyses-Oliveira, R Yadav, S Erdin… - Current Opinion in …, 2020 - Elsevier
Highlights•Exome sequencing on unprecedented scale has identified 400 genes associated
with ASD and NDD.•Functional networks disrupted in NDD converge on distinct …