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 …
Innate immune dysfunction and neuroinflammation in autism spectrum disorder (ASD)
HK Hughes, RJ Moreno, P Ashwood - Brain, behavior, and immunity, 2023 - Elsevier
Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder
characterized by communication and social behavior deficits. The presence of restricted and …
characterized by communication and social behavior deficits. The presence of restricted and …
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 …
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 …
The contributions of rare inherited and polygenic risk to ASD in multiplex families
M Cirnigliaro, TS Chang, SA Arteaga… - Proceedings of the …, 2023 - National Acad Sciences
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …
from both de novo and inherited variation. Few studies have been designed to address the …
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] 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 …
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 …
Association of genetic and environmental factors with autism in a 5-country cohort
D Bai, BHK Yip, GC Windham, A Sourander… - JAMA …, 2019 - jamanetwork.com
Importance The origins and development of autism spectrum disorder (ASD) remain
unresolved. No individual-level study has provided estimates of additive genetic, maternal …
unresolved. No individual-level study has provided estimates of additive genetic, maternal …