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 …
Identification, evaluation, and management of children with autism spectrum disorder
SL Hyman, SE Levy, SM Myers, DZ Kuo, S Apkon… - …, 2020 - publications.aap.org
Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with reported
prevalence in the United States of 1 in 59 children (approximately 1.7%). Core deficits are …
prevalence in the United States of 1 in 59 children (approximately 1.7%). Core deficits are …
[HTML][HTML] Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
AM Valencia, A Sankar, PJ van der Sluijs… - Nature Genetics, 2023 - nature.com
DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a
wide range of genetic determinants. However, a comprehensive analysis of these data, in …
wide range of genetic determinants. However, a comprehensive analysis of these data, in …
The landscape of tolerated genetic variation in humans and primates
H Gao, T Hamp, J Ede, JG Schraiber, J McRae… - Science, 2023 - science.org
Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …
individuals, but our understanding of their clinical relevance remains largely incomplete. To …
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] Human gut microbiota from autism spectrum disorder promote behavioral symptoms in mice
Autism spectrum disorder (ASD) manifests as alterations in complex human behaviors
including social communication and stereotypies. In addition to genetic risks, the gut …
including social communication and stereotypies. In addition to genetic risks, the gut …
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
Schizophrenia is a debilitating psychiatric condition often associated with poor quality of life
and decreased life expectancy. Lack of progress in improving treatment outcomes has been …
and decreased life expectancy. Lack of progress in improving treatment outcomes has been …
[HTML][HTML] Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders
PF Sullivan, DH Geschwind - Cell, 2019 - cell.com
Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …
Prevalence and architecture of de novo mutations in developmental disorders
Nature, 2017 - nature.com
The genomes of individuals with severe, undiagnosed developmental disorders are
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …
[HTML][HTML] 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 …