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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...

    Vassily Trubetskoy, Antonio F. Pardiñas, Ting Qi, Georgia Panagiotaropoulou in Nature (2022)

  2. Article

    Open Access

    Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants

    Coordinated programs of gene expression drive brain development. It is unclear which transcriptional programs, in which cell-types, are affected in neuropsychiatric disorders such as schizophrenia. Here we int...

    Bret Sanders, Daniel D’Andrea, Mark O. Collins, Elliott Rees in Nature Communications (2022)

  3. Article

    Open Access

    Genetic 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 ...

    Nicholas E. Clifton, Elliott Rees, Peter A. Holmans in Molecular Psychiatry (2021)

  4. Article

    Open Access

    Polygenic risk for schizophrenia and subcortical brain anatomy in the UK Biobank cohort

    Research has shown differences in subcortical brain volumes between participants with schizophrenia and healthy controls. However, none of these differences have been found to associate with schizophrenia poly...

    Steluta Grama, Isabella Willcocks, John J. Hubert in Translational Psychiatry (2020)

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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...

    Elliott Rees, Jun Han, Joanne Morgan, Noa Carrera in Nature Neuroscience (2020)

  6. 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)

  7. Article

    Open Access

    Dynamic expression of genes associated with schizophrenia and bipolar disorder across development

    Common genetic variation contributes a substantial proportion of risk for both schizophrenia and bipolar disorder. Furthermore, there is evidence of significant, but not complete, overlap in genetic risk betwe...

    Nicholas E. Clifton, Eilís Hannon, Janet C. Harwood in Translational Psychiatry (2019)

  8. 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)

  9. 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)

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    Article

    De novo mutations in schizophrenia implicate synaptic networks

    Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de novo) mutations, in the form of large chromosomal copy number changes, occur in a small fraction of cases and disproporti...

    Menachem Fromer, Andrew J. Pocklington, David H. Kavanagh, Hywel J. Williams in Nature (2014)

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    Chapter

    Reconstructing Models from Proteomics Data

    The synaptic proteome is a highly complex and dynamic structure composed of more roughly 2,000 distinct proteins. The constant improvement of synaptic fraction preparation, protein complex isolation and mass s...

    Lysimachos Zografos, Andrew J. Pocklington in Computational Systems Neurobiology (2012)

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    Article

    Evolutionary expansion and anatomical specialization of synapse proteome complexity

    Grant and colleagues used comparative proteomics and genomics to examine the evolution of the postsynaptic density and MAGUK-associated signaling complexes implicated in learning and memory. They found conserv...

    Richard D Emes, Andrew J Pocklington, Christopher N G Anderson in Nature Neuroscience (2008)