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 …

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 …

Strong association of de novo copy number mutations with sporadic schizophrenia

B Xu, JL Roos, S Levy, EJ Van Rensburg, JA Gogos… - Nature …, 2008 - nature.com
Schizophrenia is an etiologically heterogeneous psychiatric disease, which exists in familial
and nonfamilial (sporadic) forms. Here, we examine the possibility that rare de novo copy …

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 …

CNVs conferring risk of autism or schizophrenia affect cognition in controls

H Stefansson, A Meyer-Lindenberg, S Steinberg… - Nature, 2014 - nature.com
In a small fraction of patients with schizophrenia or autism, alleles of copy-number variants
(CNVs) in their genomes are probably the strongest factors contributing to the pathogenesis …

Copy-number variations associated with neuropsychiatric conditions

EH Cook Jr, SW Scherer - Nature, 2008 - nature.com
Neuropsychiatric conditions such as autism and schizophrenia have long been attributed to
genetic alterations, but identifying the genes responsible has proved challenging …

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

CR Marshall, DP Howrigan, D Merico… - Nature …, 2017 - nature.com
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …

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 …

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 …

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

G Kirov, D Grozeva, N Norton, D Ivanov… - Human molecular …, 2009 - academic.oup.com
We investigated the involvement of rare (< 1%) copy number variants (CNVs) in 471 cases
of schizophrenia and 2792 controls that had been genotyped using the Affymetrix …