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 …
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 …
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how
combinations of genetic factors determine risk is unclear. In a large family sample, we show …
combinations of genetic factors determine risk is unclear. In a large family sample, we show …
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 …
[HTML][HTML] Sex/gender differences and autism: setting the scene for future research
Objective The relationship between sex/gender differences and autism has attracted a
variety of research ranging from clinical and neurobiological to etiological, stimulated by the …
variety of research ranging from clinical and neurobiological to etiological, stimulated by the …
Most genetic risk for autism resides with common variation
T Gaugler, L Klei, SJ Sanders, CA Bodea… - Nature …, 2014 - nature.com
A key component of genetic architecture is the allelic spectrum influencing trait variability.
For autism spectrum disorder (herein termed autism), the nature of the allelic spectrum is …
For autism spectrum disorder (herein termed autism), the nature of the allelic spectrum is …
Large-scale discovery of novel genetic causes of developmental disorders
Nature, 2015 - nature.com
Despite three decades of successful, predominantly phenotype-driven discovery of the
genetic causes of monogenic disorders, up to half of children with severe developmental …
genetic causes of monogenic disorders, up to half of children with severe developmental …
[HTML][HTML] Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism
Genetic studies have identified dozens of autism spectrum disorder (ASD) susceptibility
genes, raising two critical questions:(1) do these genetic loci converge on specific biological …
genes, raising two critical questions:(1) do these genetic loci converge on specific biological …