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 …
An overview of the main genetic, epigenetic and environmental factors involved in autism spectrum disorder focusing on synaptic activity
E Masini, E Loi, AF Vega-Benedetti, M Carta… - International journal of …, 2020 - mdpi.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social
interaction and communication, with restricted interests, activity and behaviors. ASD is highly …
interaction and communication, with restricted interests, activity and behaviors. ASD is highly …
Identification of common genetic risk variants for autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
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 …
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …
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 …
Most genetic risk for autism resides with common variation
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 …
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo
variation. We aimed to clarify the influence of polygenic risk for ASD and to identify …
variation. We aimed to clarify the influence of polygenic risk for ASD and to identify …
Transcriptome and epigenome landscape of human cortical development modeled in organoids
INTRODUCTION The human cerebral cortex has undergone an extraordinary increase in
size and complexity during mammalian evolution. Cortical cell lineages are specified in the …
size and complexity during mammalian evolution. Cortical cell lineages are specified in the …