Clinical and translational implications of an emerging developmental substructure for autism

JN Constantino, T Charman… - Annual review of clinical …, 2021 - annualreviews.org
A vast share of the population-attributable risk for autism relates to inherited polygenic risk. A
growing number of studies in the past five years have indicated that inherited susceptibility …

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 …

Fundamental elements in autism: from neurogenesis and neurite growth to synaptic plasticity

J Gilbert, HY Man - Frontiers in cellular neuroscience, 2017 - frontiersin.org
Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders with a high
prevalence and impact on society. ASDs are characterized by deficits in both social behavior …

Genetic causes of developmental disorders

JAS Vorstman, RA Ophoff - Current opinion in neurology, 2013 - journals.lww.com
Similar to what is the case for intellectual disability, recent genetic studies indicate a large
degree of genetic heterogeneity for autism and ADHD. Many of the disease risk variants …

Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci

SJ Sanders, X He, AJ Willsey, AG Ercan-Sencicek… - Neuron, 2015 - cell.com
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC)(N=
2,591 families) replicates prior findings of strong association with autism spectrum disorders …

An overview of autism spectrum disorder, heterogeneity and treatment options

A Masi, MM DeMayo, N Glozier, AJ Guastella - Neuroscience bulletin, 2017 - Springer
Since the documented observations of Kanner in 1943, there has been great debate about
the diagnoses, the sub-types, and the diagnostic threshold that relates to what is now known …

Genes associated with autism spectrum disorder

X Li, H Zou, WT Brown - Brain research bulletin, 2012 - Elsevier
Autism spectrum disorder (ASD) is a heterogeneous grouping of neurodevelopmental
disorders characterized by impairment in social interaction, verbal communication and …

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 …

Autism spectrum disorder: signaling pathways and prospective therapeutic targets

J Baranova, G Dragunas, MCS Botellho… - Cellular and molecular …, 2021 - Springer
Abstract The Autism Spectrum Disorder (ASD) consists of a prevalent and heterogeneous
group of neurodevelopmental diseases representing a severe burden to affected individuals …

Autism and environmental genomics

MR Herbert, JP Russo, S Yang, J Roohi, M Blaxill… - Neurotoxicology, 2006 - Elsevier
Autism spectrum disorders (ASD) are defined by behavior and diagnosed by clinical history
and observation but have no biomarkers and are presumably, etiologically and biologically …