Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang… - Nature Reviews …, 2022 - nature.com
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 …

Candidate biomarkers in psychiatric disorders: state of the field

A AbiDargham, SJ Moeller, F Ali… - World …, 2023 - Wiley Online Library
The field of psychiatry is hampered by a lack of robust, reliable and valid biomarkers that can
aid in objectively diagnosing patients and providing individualized treatment …

Autism genes converge on asynchronous development of shared neuron classes

B Paulsen, S Velasco, AJ Kedaigle, M Pigoni… - Nature, 2022 - nature.com
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes
spanning a wide range of biological functions,,,,–. The alterations in the human brain …

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 …

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 …

New and emerging approaches to treat psychiatric disorders

KW Scangos, MW State, AH Miller, JT Baker… - Nature medicine, 2023 - nature.com
Psychiatric disorders are highly prevalent, often devastating diseases that negatively impact
the lives of millions of people worldwide. Although their etiological and diagnostic …

Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype

D Kim, JM Paggi, C Park, C Bennett… - Nature biotechnology, 2019 - nature.com
The human reference genome represents only a small number of individuals, which limits its
usefulness for genotyping. We present a method named HISAT2 (hierarchical indexing for …

Changes in access to educational and healthcare services for individuals with intellectual and developmental disabilities during COVID19 restrictions

S Jeste, C Hyde, C Distefano… - Journal of …, 2020 - Wiley Online Library
Background COVID19 restrictions have significantly limited access to inperson
educational and healthcare services for all, including individuals with intellectual and …

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 …

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …