6 Result(s)
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Andrew J. Pocklington
Biomedicine
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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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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.
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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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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...
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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...
