Diverse types of genetic variation converge on functional gene networks involved in schizophrenia

SR Gilman, J Chang, B Xu, TS Bawa, JA Gogos… - Nature …, 2012 - nature.com
Despite the successful identification of several relevant genomic loci, the underlying
molecular mechanisms of schizophrenia remain largely unclear. We developed a …

[HTML][HTML] CNVs: harbingers of a rare variant revolution in psychiatric genetics

D Malhotra, J Sebat - Cell, 2012 - cell.com
The genetic bases of neuropsychiatric disorders are beginning to yield to scientific inquiry.
Genome-wide studies of copy number variation (CNV) have given rise to a new …

Genetic risk for schizophrenia: convergence on synaptic pathways involved in plasticity

J Hall, S Trent, KL Thomas, MC O'Donovan… - Biological psychiatry, 2015 - Elsevier
Recent large-scale genomic studies have revealed two broad classes of risk alleles for
schizophrenia: a polygenic component of risk mediated through multiple common risk …

Functional impact of global rare copy number variation in autism spectrum disorders

D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico… - Nature, 2010 - nature.com
The autism spectrum disorders (ASDs) are a group of conditions characterized by
impairments in reciprocal social interaction and communication, and the presence of …

De novo mutations in regulatory elements in neurodevelopmental disorders

PJ Short, JF McRae, G Gallone, A Sifrim, H Won… - Nature, 2018 - nature.com
We previously estimated that 42% of patients with severe developmental disorders carry
pathogenic de novo mutations in coding sequences. The role of de novo mutations in …

[PDF][PDF] Recurrent CNVs disrupt three candidate genes in schizophrenia patients

T Vrijenhoek, JE Buizer-Voskamp, I van der Stelt… - The American Journal of …, 2008 - cell.com
Schizophrenia is a severe psychiatric disease with complex etiology, affecting approximately
1% of the general population. Most genetics studies so far have focused on disease …

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

AF Pardiñas, P Holmans, AJ Pocklington… - Nature …, 2018 - nature.com
Schizophrenia is a debilitating psychiatric condition often associated with poor quality of life
and decreased life expectancy. Lack of progress in improving treatment outcomes has been …

Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis

AD Grotzinger, TT Mallard, WA Akingbuwa, HF Ip… - Nature …, 2022 - nature.com
We interrogate the joint genetic architecture of 11 major psychiatric disorders at
biobehavioral, functional genomic and molecular genetic levels of analysis. We identify four …

Mapping and characterization of structural variation in 17,795 human genomes

HJ Abel, DE Larson, AA Regier, C Chiang, I Das… - Nature, 2020 - nature.com
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …

Exploring the genetic overlap between twelve psychiatric disorders

C Romero, J Werme, PR Jansen, J Gelernter… - Nature …, 2022 - nature.com
The widespread comorbidity among psychiatric disorders demonstrated in epidemiological
studies,,,–is mirrored by non-zero, positive genetic correlations from large-scale genetic …