[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 …

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 …

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

M Babadi, JM Fu, SK Lee, AN Smirnov, LD Gauthier… - Nature …, 2023 - nature.com
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 …

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 …

Polygenic architecture of rare coding variation across 394,783 exomes

DJ Weiner, A Nadig, KA Jagadeesh, KK Dey, BM Neale… - Nature, 2023 - nature.com
Both common and rare genetic variants influence complex traits and common diseases.
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 …

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 …

Molecular and network-level mechanisms explaining individual differences in autism spectrum disorder

AM Buch, PE Vértes, J Seidlitz, SH Kim… - Nature …, 2023 - nature.com
The mechanisms underlying phenotypic heterogeneity in autism spectrum disorder (ASD)
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

V Warrier, EM Stauffer, QQ Huang, EM Wigdor… - Nature …, 2023 - nature.com
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 …

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders

T Wang, CN Kim, TE Bakken… - Proceedings of the …, 2022 - National Acad Sciences
Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder
(DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we …