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Article
Open AccessFamily-based analysis of the contribution of rare and common genetic variants to school performance in schizophrenia
Impaired cognition in schizophrenia is associated with worse functional outcomes. While genetic factors are known to contribute to variation in cognition in schizophrenia, few rare coding variants with strong ...
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Article
Rare coding variants in ten genes confer substantial risk for schizophrenia
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 schizophrenia cases and 97,322 controls,...
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Article
Map** genomic loci implicates genes and synaptic biology in schizophrenia
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 schizophrenia and 243,649 con...
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Article
Reduced reproductive success is associated with selective constraint on human genes
Genome-wide sequencing of human populations has revealed substantial variation among genes in the intensity of purifying selection acting on damaging genetic variants1. Although genes under the strongest selectiv...
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Article
Open AccessSchizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations
People with schizophrenia are enriched for rare coding variants in genes associated with neurodevelopmental disorders, particularly autism spectrum disorders and intellectual disability. However, it is unclear...
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Article
Open AccessGenetic association of FMRP targets with psychiatric disorders
Genes encoding the mRNA targets of fragile X mental retardation protein (FMRP) are enriched for genetic association with psychiatric disorders. However, many FMRP targets possess functions that are themselves ...
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Article
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 6...
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Article
International Consortium on the Genetics of Electroconvulsive Therapy and Severe Depressive Disorders (Gen-ECT-ic)
Recent genome-wide association studies have demonstrated that the genetic burden associated with depression correlates with depression severity. Therefore, conducting genetic studies of patients at the most se...
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Article
Open AccessA brief report: de novo copy number variants in children with attention deficit hyperactivity disorder
Recent case–control genetic studies of attention deficit hyperactivity disorder (ADHD) have implicated common and rare genetic risk alleles, highlighting the polygenic and complex aetiology of this neurodevelo...
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Article
Genetic liability to schizophrenia is negatively associated with educational attainment in UK Biobank
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Open AccessSchizophrenia-associated genomic copy number variants and subcortical brain volumes in the UK Biobank
Schizophrenia is a highly heritable disorder for which anatomical brain alterations have been repeatedly reported in clinical samples. Unaffected at-risk groups have also been studied in an attempt to identify...
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Article
De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia
Schizophrenia is a highly polygenic disorder with important contributions from both common and rare risk alleles. We analyzed exome sequencing data for de novo variants (DNVs) in a new sample of 613 schizophre...
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Publisher Correction: Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Genome-wide association study identifies 30 loci associated with bipolar disorder
Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study (GWAS) including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 v...
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Article
Open AccessEffects of pathogenic CNVs on physical traits in participants of the UK Biobank
Copy number variants (CNVs) have been shown to increase risk for physical anomalies, developmental, psychiatric and medical disorders. Some of them have been associated with changes in weight, height, and othe...
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Article
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
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 attributed to limited k...
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Article
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
The CNV analysis group of the Psychiatric Genomic Consortium analyzes a large schizophrenia cohort to examine genomic copy number variants (CNVs) and disease risk. They find an enrichment of CNV burden in case...
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Article
Open AccessGender differences in CNV burden do not confound schizophrenia CNV associations
Compared with the general population, an excess of rare copy number variants (CNVs) has been identified in people with schizophrenia. Females with neurodevelopmental disorders and in the general population hav...
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Article
Open AccessPathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ...
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Article
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype
Myoclonus dystonia syndrome (MDS) is a young-onset movement disorder. A proportion of cases are due to mutations in the maternally imprinted SGCE gene. We assembled the largest cohort of MDS patients to date, and...
