{"doi":"10.1038/mp.2013.156","title":"Evidence that duplications of 22q11.2 protect against schizophrenia","abstract":"A number of large, rare copy number variants (CNVs) are deleterious for neurodevelopmental disorders, but large, rare, protective CNVs have not been reported for such phenotypes. Here we show in a CNV analysis of 47 005 individuals, the largest CNV analysis of schizophrenia to date, that large duplications (1.5-3.0 Mb) at 22q11.2--the reciprocal of the well-known, risk-inducing deletion of this locus--are substantially less common in schizophrenia cases than in the general population (0.014% vs 0.085%, OR=0.17, P=0.00086). 22q11.2 duplications represent the first putative protective mutation for schizophrenia.","journal":"Molecular Psychiatry","year":2013,"id":2338,"datarank":5.771184910966407,"base_score":5.241747015059643,"endowment":5.241747015059643,"self_citation_contribution":0.7862620522589465,"citation_network_contribution":4.984922858707461,"self_endowment_contribution":0.7862620522589465,"citer_contribution":4.984922858707461,"corpus_percentile":null,"corpus_rank":null,"citation_count":188,"citer_count":163,"citers_with_citation_signal":125,"citers_with_endowment":125,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.0483,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2013-11-12","algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":37949,"name":"James T.R. 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