[HTML][HTML] Epigenomic signatures reveal mechanistic clues and predictive markers for autism spectrum disorder
JM LaSalle - Molecular psychiatry, 2023 - nature.com
Autism spectrum disorder (ASD) comprises a heterogeneous group of neurodevelopmental
outcomes in children with a commonality in deficits in social communication and language …
outcomes in children with a commonality in deficits in social communication and language …
Mental health challenges faced by autistic people
MC Lai - Nature Human Behaviour, 2023 - nature.com
Mental health challenges impede the well-being of autistic people. This Review outlines
contributing neurodevelopmental and physical health conditions, rates and developmental …
contributing neurodevelopmental and physical health conditions, rates and developmental …
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
Copy number variants (CNVs) are major contributors to genetic diversity and disease. While
standardized methods, such as the genome analysis toolkit (GATK), exist for detecting short …
standardized methods, such as the genome analysis toolkit (GATK), exist for detecting short …
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 …
Polygenic architecture of rare coding variation across 394,783 exomes
Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …
Genome-wide association studies have identified thousands of common-variant …
[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 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 …
Molecular and network-level mechanisms explaining individual differences in autism spectrum disorder
The mechanisms underlying phenotypic heterogeneity in autism spectrum disorder (ASD)
are not well understood. Using a large neuroimaging dataset, we identified three latent …
are not well understood. Using a large neuroimaging dataset, we identified three latent …
Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes
Our understanding of the genetics of the human cerebral cortex is limited both in terms of the
diversity and the anatomical granularity of brain structural phenotypes. Here we conducted a …
diversity and the anatomical granularity of brain structural phenotypes. Here we conducted a …
Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders
Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder
(DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we …
(DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we …