Rare coding variants in ten genes confer substantial risk for schizophrenia

T Singh, T Poterba, D Curtis, H Akil, M Al Eissa… - Nature, 2022 - nature.com
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

A polygenic burden of rare disruptive mutations in schizophrenia

SM Purcell, JL Moran, M Fromer, D Ruderfer… - Nature, 2014 - nature.com
Schizophrenia is a common disease with a complex aetiology, probably involving multiple
and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 …

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

V Trubetskoy, AF Pardiñas, T Qi, G Panagiotaropoulou… - Nature, 2022 - nature.com
Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Indonesia Schizophrenia Consortium… - Nature, 2022 - research.vu.nl
Schizophrenia has a heritability of 60-80% 1, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …

Large recurrent microdeletions associated with schizophrenia

H Stefansson, D Rujescu, S Cichon, OPH Pietiläinen… - nature, 2008 - nature.com
Reduced fecundity, associated with severe mental disorders, places negative selection
pressure on risk alleles and may explain, in part, why common variants have not been found …

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

MEK Niemi, HC Martin, DL Rice, G Gallone, S Gordon… - Nature, 2018 - nature.com
There are thousands of rare human disorders that are caused by single deleterious, protein-
coding genetic variants. However, patients with the same genetic defect can have different …

Genesis of a complex disease

J Flint, M Munafo - Nature, 2014 - nature.com
Genesis of a complex disease | Nature Skip to main content Thank you for visiting nature.com.
You are using a browser version with limited support for CSS. To obtain the best experience …

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 …

Common variants conferring risk of schizophrenia

H Stefansson, RA Ophoff, S Steinberg, OA Andreassen… - Nature, 2009 - nature.com
Schizophrenia is a complex disorder, caused by both genetic and environmental factors and
their interactions. Research on pathogenesis has traditionally focused on neurotransmitter …

Rare chromosomal deletions and duplications increase risk of schizophrenia

Cardiff University O'Donovan Michael C. 5 Kirov … - Nature, 2008 - nature.com
Schizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive
deficits and apathy, with a heritability estimated at 73–90%(ref.). Inheritance patterns are …