Gene expression elucidates functional impact of polygenic risk for schizophrenia

M Fromer, P Roussos, SK Sieberts, JS Johnson… - Nature …, 2016 - nature.com
Over 100 genetic loci harbor schizophrenia-associated variants, yet how these variants
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …

Advances in schizophrenia

GK Thaker, WT Carpenter - Nature medicine, 2001 - nature.com
Recent studies into the etiology of schizophrenia have yielded both promising leads and
disappointing dead ends, indicating the multifactored and complex nature of the disorder …

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 …

Biological insights from 108 schizophrenia-associated genetic loci

C Pantelis, GN Papadimitriou, S Papiol… - Nature, 2014 - nature.com
Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of
alleles, including common alleles of small effect that might be detected by genome-wide …

Chromosome conformation elucidates regulatory relationships in developing human brain

H Won, L de La Torre-Ubieta, JL Stein, NN Parikshak… - Nature, 2016 - nature.com
Three-dimensional physical interactions within chromosomes dynamically regulate gene
expression in a tissue-specific manner,,. However, the 3D organization of chromosomes …

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 …

Schizophrenia risk from complex variation of complement component 4

A Sekar, AR Bialas, H De Rivera, A Davis… - Nature, 2016 - nature.com
Schizophrenia is a heritable brain illness with unknown pathogenic mechanisms.
Schizophrenia's strongest genetic association at a population level involves variation in the …

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 …

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 …

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

G Genovese, M Fromer, EA Stahl, DM Ruderfer… - Nature …, 2016 - nature.com
By analyzing the exomes of 12,332 unrelated Swedish individuals, including 4,877
individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 …