Autism spectrum disorder: a review

T Hirota, BH King - Jama, 2023 - jamanetwork.com
Importance Autism spectrum disorder (ASD), characterized by deficits in social
communication and the presence of restricted, repetitive behaviors or interests, is a …

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 …

Autism spectrum disorder at the crossroad between genes and environment: contributions, convergences, and interactions in ASD developmental pathophysiology

C Cheroni, N Caporale, G Testa - Molecular autism, 2020 - Springer
The complex pathophysiology of autism spectrum disorder encompasses interactions
between genetic and environmental factors. On the one hand, hundreds of genes …

Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …

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 …

Inherited and de novo genetic risk for autism impacts shared networks

EK Ruzzo, L Pérez-Cano, JY Jung, L Wang… - Cell, 2019 - cell.com
We performed a comprehensive assessment of rare inherited variation in autism spectrum
disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families …

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 …

From the genetic architecture to synaptic plasticity in autism spectrum disorder

T Bourgeron - Nature Reviews Neuroscience, 2015 - nature.com
Genetics studies of autism spectrum disorder (ASD) have identified several risk genes that
are key regulators of synaptic plasticity. Indeed, many of the risk genes that have been …

Autism genetics: opportunities and challenges for clinical translation

JAS Vorstman, JR Parr, D Moreno-De-Luca… - Nature Reviews …, 2017 - nature.com
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …

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 …