[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 …

Immune mediators in the brain and peripheral tissues in autism spectrum disorder

ML Estes, AK McAllister - Nature Reviews Neuroscience, 2015 - nature.com
Increasing evidence points to a central role for immune dysregulation in autism spectrum
disorder (ASD). Several ASD risk genes encode components of the immune system and …

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

S Ripke, C O'dushlaine, K Chambert, JL Moran… - Nature …, 2013 - nature.com
Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial
public health impact. We conducted a multi-stage genome-wide association study (GWAS) …

[HTML][HTML] Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism

NN Parikshak, R Luo, A Zhang, H Won, JK Lowe… - Cell, 2013 - cell.com
Genetic studies have identified dozens of autism spectrum disorder (ASD) susceptibility
genes, raising two critical questions:(1) do these genetic loci converge on specific biological …

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

D Pinto, E Delaby, D Merico, M Barbosa… - The American Journal of …, 2014 - cell.com
Rare copy-number variation (CNV) is an important source of risk for autism spectrum
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …

Genetic contributions to autism spectrum disorder

A Havdahl, M Niarchou, A Starnawska… - Psychological …, 2021 - cambridge.org
Autism spectrum disorder (autism) is a heterogeneous group of neurodevelopmental
conditions characterized by early childhood-onset impairments in communication and social …

Heritability and genomics of gene expression in peripheral blood

FA Wright, PF Sullivan, AI Brooks, F Zou, W Sun, K Xia… - Nature …, 2014 - nature.com
We assessed gene expression profiles in 2,752 twins, using a classic twin design to quantify
expression heritability and quantitative trait loci (eQTLs) in peripheral blood. The most highly …

Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

DJ Weiner, E Ling, S Erdin, DJC Tai, R Yadav… - Nature …, 2022 - nature.com
The canonical paradigm for converting genetic association to mechanism involves iteratively
mapping individual associations to the proximal genes through which they act. In contrast, in …

Cortical organoids model early brain development disrupted by 16p11. 2 copy number variants in autism

J Urresti, P Zhang, P Moran-Losada, NK Yu… - Molecular …, 2021 - nature.com
Reciprocal deletion and duplication of the 16p11. 2 region is the most common copy number
variation (CNV) associated with autism spectrum disorders. We generated cortical organoids …

Autism genetics: searching for specificity and convergence

JM Berg, DH Geschwind - Genome biology, 2012 - Springer
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