Increased exonic de novo mutation rate in individuals with schizophrenia

SL Girard, J Gauthier, A Noreau, L Xiong, S Zhou… - Nature …, 2011 - nature.com
Schizophrenia is a severe psychiatric disorder that profoundly affects cognitive, behavioral
and emotional processes. The wide spectrum of symptoms and clinical variability in …

Common variants on chromosome 6p22. 1 are associated with schizophrenia

J Shi, DF Levinson, J Duan, AR Sanders, Y Zheng… - Nature, 2009 - nature.com
Schizophrenia, a devastating psychiatric disorder, has a prevalence of 0.5–1%, with high
heritability (80–85%) and complex transmission. Recent studies implicate rare, large, high …

Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11. 2

WH Yue, HF Wang, LD Sun, FL Tang, ZH Liu… - Nature …, 2011 - nature.com
To identify susceptibility loci for schizophrenia, we performed a two-stage genome-wide
association study (GWAS) of schizophrenia in the Han Chinese population (GWAS: 746 …

De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia

E Rees, J Han, J Morgan, N Carrera… - Nature …, 2020 - nature.com
Schizophrenia is a highly polygenic disorder with important contributions from both common
and rare risk alleles. We analyzed exome sequencing data for de novo variants (DNVs) in a …

Whole genome sequencing in psychiatric disorders: the WGSPD consortium

SJ Sanders, BM Neale, H Huang, DM Werling… - Nature …, 2017 - nature.com
As technology advances, whole genome sequencing (WGS) is likely to supersede other
genotyping technologies. The rate of this change depends on its relative cost and utility …

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability

T Singh, JTR Walters, M Johnstone, D Curtis… - Nature …, 2017 - nature.com
By performing a meta-analysis of rare coding variants in whole-exome sequences from
4,133 schizophrenia cases and 9,274 controls, de novo mutations in 1,077 family trios, and …

A neuroimaging biomarker for striatal dysfunction in schizophrenia

A Li, A Zalesky, W Yue, O Howes, H Yan, Y Liu, L Fan… - Nature Medicine, 2020 - nature.com
Mounting evidence suggests that function and connectivity of the striatum is disrupted in
schizophrenia,,,–. We have developed a new hypothesis-driven neuroimaging biomarker for …

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

LM Huckins, A Dobbyn, DM Ruderfer, G Hoffman… - Nature …, 2019 - nature.com
Transcriptomic imputation approaches combine eQTL reference panels with large-scale
genotype data in order to test associations between disease and gene expression. These …

WebQTL: rapid exploratory analysis of gene expression and genetic networks for brain and behavior

EJ Chesler, L Lu, J Wang, RW Williams… - Nature neuroscience, 2004 - nature.com
WebQTL. The abundance of Grin2b mRNA transcript in several forebrain data sets varies
approximately two-fold across 35 strains. Half of the variation in expression is heritable; and …

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

T Singh, BM Neale, MJ Daly - MedRxiv, 2020 - medrxiv.org
By meta-analyzing the whole-exomes of 24,248 cases and 97,322 controls, we implicate
ultra-rare coding variants (URVs) in ten genes as conferring substantial risk for …