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  1. No Access

    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...

    Niamh Mullins, Andreas J. Forstner, Kevin S. O’Connell, Brandon Coombes in Nature Genetics (2021)

  2. Article

    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.

    Antonio F. Pardiñas, Peter Holmans, Andrew J. Pocklington in Nature Genetics (2019)

  3. No Access

    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...

    Eli A. Stahl, Gerome Breen, Andreas J. Forstner, Andrew McQuillin in Nature Genetics (2019)

  4. No Access

    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...

    Antonio F. Pardiñas, Peter Holmans, Andrew J. Pocklington in Nature Genetics (2018)

  5. No Access

    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...

    Christian R Marshall, Daniel P Howrigan, Daniele Merico in Nature Genetics (2017)

  6. Article

    Open Access

    Pathogenic 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 ...

    Andrew E. Fry, Elliott Rees, Rose Thompson, Kiran Mantripragada in BMC Medical Genetics (2016)

  7. No Access

    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.

    Shane E McCarthy, Vladimir Makarov, George Kirov, Anjene M Addington in Nature Genetics (2009)

  8. No Access

    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...

    Michael C O'Donovan, George Kirov, Michael J Owen in Nature Genetics (2008)

  9. Article

    Open Access

    A 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...

    Richard Abraham, Valentina Moskvina, Rebecca Sims in BMC Medical Genomics (2008)

  10. No Access

    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...

    Manuel A R Ferreira, Michael C O'Donovan, Yan A Meng, Ian R Jones in Nature Genetics (2008)

  11. No Access

    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...

    Michael C O'Donovan, Nicholas Craddock, Nadine Norton, Hywel Williams in Nature Genetics (2008)

  12. No Access

    Article

    Lack of support for a genetic association of the XBP1 promoter polymorphism with bipolar disorder in probands of European origin

    Sven Cichon, Silvia Buervenich, George Kirov, Nirmala Akula in Nature Genetics (2004)

  13. No Access

    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...

    Nadine Norton, Nigel M. Williams, Hywel J. Williams, Gillian Spurlock in Human Genetics (2002)

  14. No Access

    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 ...

    Pamela Sklar, Sibylle G. Schwab, Nigel M. Williams, Mark Daly in Nature Genetics (2001)

  15. No Access

    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...

    Bastiaan Hoogendoorn, Nadine Norton, George Kirov, Nigel Williams in Human Genetics (2000)