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�…
[HTML][HTML] The changing epidemiology of autism spectrum disorders
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with lifelong
impacts. Genetic and environmental factors contribute to ASD etiology, which remains�…
impacts. Genetic and environmental factors contribute to ASD etiology, which remains�…
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�…
[HTML][HTML] Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new�…
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new�…
[HTML][HTML] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to�…
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to�…
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�…
Genomic architecture of autism from comprehensive whole-genome sequence annotation
B Trost, B Thiruvahindrapuram, AJS Chan…�- Cell, 2022 - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource�…
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource�…
Heritability of autism spectrum disorders: a meta‐analysis of twin studies
Background The etiology of Autism Spectrum Disorder (ASD) has been recently debated
due to emerging findings on the importance of shared environmental influences. However�…
due to emerging findings on the importance of shared environmental influences. However�…
[HTML][HTML] Environmental risk factors for autism: an evidence-based review of systematic reviews and meta-analyses
A Modabbernia, E Velthorst, A Reichenberg�- Molecular autism, 2017 - Springer
Background According to recent evidence, up to 40–50% of variance in autism spectrum
disorder (ASD) liability might be determined by environmental factors. In the present paper�…
disorder (ASD) liability might be determined by environmental factors. In the present paper�…
Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap
MJ Gandal, JR Haney, NN Parikshak, V Leppa…�- Science, 2018 - science.org
The predisposition to neuropsychiatric disease involves a complex, polygenic, and
pleiotropic genetic architecture. However, little is known about how genetic variants impart�…
pleiotropic genetic architecture. However, little is known about how genetic variants impart�…