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 …

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.
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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 …

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 …

De novo mutations in schizophrenia implicate synaptic networks

M Fromer, AJ Pocklington, DH Kavanagh, HJ Williams… - Nature, 2014 - nature.com
Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de
novo) mutations, in the form of large chromosomal copy number changes, occur in a small …

Exome sequencing supports a de novo mutational paradigm for schizophrenia

B Xu, JL Roos, P Dexheimer, B Boone, B Plummer… - Nature …, 2011 - nature.com
Despite its high heritability, a large fraction of individuals with schizophrenia do not have a
family history of the disease (sporadic cases). Here we examined the possibility that rare de …

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 …

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

B Xu, I Ionita-Laza, JL Roos, B Boone, S Woodrick… - Nature …, 2012 - nature.com
To evaluate evidence for de novo etiologies in schizophrenia, we sequenced at high
coverage the exomes of families recruited from two populations with distinct demographic …

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 …

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 …