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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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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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Article
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
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 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
Microduplications of 16p11.2 are associated with schizophrenia
Jonathan Sebat and colleagues report the association of microduplication on chromosome 16p11.2 with schizophrenia, while the reciprocal microdeletion was associated with autism and developmental disorders.
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Article
Phenotypic variations on the theme of CNVs
Copy number variation has emerged as an important type of genetic risk factor for developmental disorders, including the neurodevelopmental disorders schizophrenia, autism and mental retardation. The highly pl...
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Article
Open AccessA genome-wide association study for late-onset Alzheimer's disease using DNA pooling
Late-onset Alzheimer's disease (LOAD) is an age related neurodegenerative disease with a high prevalence that places major demands on healthcare resources in societies with increasingly aged populations. The o...
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Article
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder
Pamela Sklar and colleagues report a genome-wide association study of bipolar disorder and identify variants in the genes encoding ankyrin-3 and the alpha-1C subunit of the L-type voltage-gated calcium channel...
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Article
Identification of loci associated with schizophrenia by genome-wide association and follow-up
Michael O'Donovan and colleagues present a genome-wide association study of schizophrenia in 479 cases and 2,937 controls, followed by replication in several cohorts. They report evidence for association for a...
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Article
Lack of support for a genetic association of the XBP1 promoter polymorphism with bipolar disorder in probands of European origin
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Article
Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools
Detecting alleles that confer small increments in susceptibility to disease will require large-scale allelic association studies of single-nucleotide polymorphisms (SNPs) in candidate, or positional candidate...
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Article
Association analysis of NOTCH4 loci in schizophrenia using family and population-based controls
A genetic association between NOTCH4 and schizophrenia has previously been proposed1. Unsing all markers previously shown to be associated, we found no evidence for such in three independent family-based samples ...
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Article
Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools
At present, the cost of genoty** single nucleotide polymorphisms (SNPs) in large numbers of subjects poses a formidable problem for molecular genetic approaches to complex diseases. We have tested the possi...