Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
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 (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
The complex pathophysiology of autism spectrum disorder encompasses interactions
between genetic and environmental factors. On the one hand, hundreds of genes …
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 …
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
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 …
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
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 …
disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families …
Advancing the understanding of autism disease mechanisms through genetics
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …
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 …
are key regulators of synaptic plasticity. Indeed, many of the risk genes that have been …
Autism genetics: opportunities and challenges for clinical translation
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 …
risk effects are highly variable, and they are frequently related to other conditions besides …
Synaptic, transcriptional and chromatin genes disrupted in autism
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 …
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …