{"id":"https://openalex.org/W2091467970","doi":"https://doi.org/10.1093/hmg/ddp043","title":"Support for the involvement of large copy number variants in the pathogenesis of schizophrenia","display_name":"Support for the involvement of large copy number variants in the pathogenesis of schizophrenia","publication_year":2009,"publication_date":"2009-01-29","ids":{"openalex":"https://openalex.org/W2091467970","doi":"https://doi.org/10.1093/hmg/ddp043","mag":"2091467970","pmid":"https://pubmed.ncbi.nlm.nih.gov/19181681","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2664144"},"language":"en","primary_location":{"id":"doi:10.1093/hmg/ddp043","doi":"https://doi.org/10.1093/hmg/ddp043","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddp043","pdf_url":"https://academic.oup.com/hmg/article-pdf/18/8/1497/17248527/ddp043.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/hmg/article-pdf/18/8/1497/17248527/ddp043.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5048946250","display_name":"George Kirov","orcid":"https://orcid.org/0000-0002-3427-3950","observed_orcids":["https://orcid.org/0000-0002-3427-3950"]},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"George Kirov","raw_affiliation_strings":["Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I79510175"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056401075","display_name":"Detelina Grozeva","orcid":"https://orcid.org/0000-0003-3239-8415","observed_orcids":["https://orcid.org/0000-0003-3239-8415"]},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Detelina Grozeva","raw_affiliation_strings":["Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I79510175"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023752531","display_name":"Nadine Norton","orcid":"https://orcid.org/0000-0002-3848-4288","observed_orcids":["https://orcid.org/0000-0002-3848-4288"]},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Nadine Norton","raw_affiliation_strings":["Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I79510175"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057712097","display_name":"Dobril K. Ivanov","orcid":"https://orcid.org/0000-0001-6271-6301","observed_orcids":["https://orcid.org/0000-0001-6271-6301"]},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Dobril Ivanov","raw_affiliation_strings":["Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I79510175"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065259473","display_name":"Kiran K. Mantripragada","orcid":"https://orcid.org/0000-0003-2070-8105","observed_orcids":["https://orcid.org/0000-0003-2070-8105"]},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Kiran K. Mantripragada","raw_affiliation_strings":["Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I79510175"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028228908","display_name":"Peter Holmans","orcid":"https://orcid.org/0000-0003-0870-9412","observed_orcids":["https://orcid.org/0000-0003-0870-9412"]},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Peter Holmans","raw_affiliation_strings":["Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I79510175"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030438682","display_name":"Nick J. Craddock","orcid":"https://orcid.org/0000-0003-2171-0610","observed_orcids":["https://orcid.org/0000-0003-2171-0610"]},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Nick Craddock","raw_affiliation_strings":["Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I79510175"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026352442","display_name":"Michael John Owen","orcid":"https://orcid.org/0000-0003-4798-0862","observed_orcids":["https://orcid.org/0000-0003-4798-0862"]},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Michael J. Owen","raw_affiliation_strings":["Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I79510175"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5059458620","display_name":"Michael C. O\u2019Donovan","orcid":"https://orcid.org/0000-0001-7073-2379","observed_orcids":["https://orcid.org/0000-0001-7073-2379"]},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michael C. O'Donovan","raw_affiliation_strings":["Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I79510175"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5026352442"],"corresponding_institution_ids":["https://openalex.org/I79510175"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":null,"fwci":29.3852,"has_fulltext":true,"cited_by_count":397,"citation_normalized_percentile":{"value":0.99821495,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":91,"max":100},"biblio":{"volume":"18","issue":"8","first_page":"1497","last_page":"1503"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9570000171661377,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9570000171661377,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10023","display_name":"Schizophrenia research and treatment","score":0.040699999779462814,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.8299999833106995},{"id":"https://openalex.org/keywords/schizophrenia","display_name":"schizophrenia","score":0.9729999899864197},{"id":"https://openalex.org/keywords/rare-copy-number-variants","display_name":"rare copy number variants","score":0.5989999771118164},{"id":"https://openalex.org/keywords/large-deletions","display_name":"large deletions","score":0.6480000019073486},{"id":"https://openalex.org/keywords/22q11-2-deletion","display_name":"22q11.2 deletion","score":0.8809999823570251},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.7400000095367432},{"id":"https://openalex.org/keywords/pathogenesis","display_name":"pathogenesis","score":0.4399999976158142}],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.8532454967498779},{"id":"https://openalex.org/C2776412080","wikidata":"https://www.wikidata.org/wiki/Q7431605","display_name":"Schizophrenia (object-oriented programming)","level":2,"score":0.717056393623352},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6897802352905273},{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.6663488149642944},{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.6475437879562378},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6323992013931274},{"id":"https://openalex.org/C156957248","wikidata":"https://www.wikidata.org/wiki/Q1862216","display_name":"Odds ratio","level":2,"score":0.5030545592308044},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.30307814478874207},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.17357710003852844},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1485666036605835},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.12568989396095276},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.11928832530975342},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.08334526419639587}],"mesh":[{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006113","descriptor_name":"United Kingdom","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012559","descriptor_name":"Schizophrenia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017353","descriptor_name":"Gene Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018628","descriptor_name":"Gene Dosage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1093/hmg/ddp043","doi":"https://doi.org/10.1093/hmg/ddp043","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddp043","pdf_url":"https://academic.oup.com/hmg/article-pdf/18/8/1497/17248527/ddp043.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2664144","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2664144","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hum Mol Genet","raw_type":"Text"},{"id":"pmid:19181681","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19181681","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human molecular genetics","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.834.3228","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.834.3228","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://hmg.oxfordjournals.org/content/18/8/1497.full.pdf","raw_type":"text"},{"id":"pmh:oai:https://orca.cardiff.ac.uk:25799","doi":null,"is_oa":false,"landing_page_url":"https://orca.cardiff.ac.uk/id/eprint/25799/","pdf_url":null,"source":{"id":"https://openalex.org/S4306401195","display_name":"ORCA Online Research @Cardiff (Cardiff University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79510175","host_organization_name":"Cardiff University","host_organization_lineage":["https://openalex.org/I79510175"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:open-archive.highwire.org:hmg:18/8/1497","doi":null,"is_oa":false,"landing_page_url":"http://hmg.oxfordjournals.org/cgi/content/short/18/8/1497","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"TEXT"}],"best_oa_location":{"id":"doi:10.1093/hmg/ddp043","doi":"https://doi.org/10.1093/hmg/ddp043","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddp043","pdf_url":"https://academic.oup.com/hmg/article-pdf/18/8/1497/17248527/ddp043.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G3125097226","display_name":"White Matter Abnormalities in Schizophrenia","funder_award_id":"P50MH066392","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G8846473491","display_name":null,"funder_award_id":"MH066392","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G8987205718","display_name":"The genetics of weight, BMI, adiposity and obesity","funder_award_id":"076113","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"}],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320337346","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2091467970.pdf","grobid_xml":"https://content.openalex.org/works/W2091467970.grobid-xml"},"referenced_works_count":39,"referenced_works":["https://openalex.org/W749225980","https://openalex.org/W1500812111","https://openalex.org/W1689993039","https://openalex.org/W1967111730","https://openalex.org/W1969958137","https://openalex.org/W1971321176","https://openalex.org/W1973502710","https://openalex.org/W1976358763","https://openalex.org/W1997031801","https://openalex.org/W2024862524","https://openalex.org/W2026537232","https://openalex.org/W2040159957","https://openalex.org/W2049973822","https://openalex.org/W2050161506","https://openalex.org/W2053439438","https://openalex.org/W2066874799","https://openalex.org/W2071697059","https://openalex.org/W2084865691","https://openalex.org/W2092630887","https://openalex.org/W2098380802","https://openalex.org/W2103256993","https://openalex.org/W2103785875","https://openalex.org/W2106949460","https://openalex.org/W2108284636","https://openalex.org/W2109428406","https://openalex.org/W2109810791","https://openalex.org/W2119907069","https://openalex.org/W2125160980","https://openalex.org/W2134783591","https://openalex.org/W2139830073","https://openalex.org/W2141069481","https://openalex.org/W2141704631","https://openalex.org/W2152793478","https://openalex.org/W2158370744","https://openalex.org/W2161633633","https://openalex.org/W2161641617","https://openalex.org/W2253685848","https://openalex.org/W6675979281","https://openalex.org/W6676209384"],"related_works":["https://openalex.org/W7095842390","https://openalex.org/W2032883444","https://openalex.org/W7070849782","https://openalex.org/W2043735140","https://openalex.org/W2161295392","https://openalex.org/W6982002367","https://openalex.org/W2086619421","https://openalex.org/W2160736551","https://openalex.org/W2110094217","https://openalex.org/W2280036448"],"abstract_inverted_index":{"We":[0,201],"investigated":[1],"the":[2,24,45,136,154,204,224,230,237],"involvement":[3,225],"of":[4,14,124,130,139,145,226,232,240],"rare":[5,227],"(<1%)":[6],"copy":[7],"number":[8],"variants":[9],"(CNVs)":[10],"in":[11,39,76,81,122,135,186,229],"471":[12],"cases":[13,40,78,127,188],"schizophrenia":[15,95,146,217,233],"and":[16,96,128,189,216,234],"2792":[17],"controls":[18,134,191],"that":[19,243],"had":[20],"been":[21,175],"genotyped":[22],"using":[23],"Affymetrix":[25],"GeneChip":[26],"500K":[27],"Mapping":[28],"Array.":[29],"Large":[30],"CNVs":[31,228,242],">1":[32],"Mb":[33],"were":[34,61,74],"2.26":[35],"times":[36],"more":[37,63],"common":[38,64],"(P":[41,218],"=":[42,54,57,66,69,148,151,164,196,199,219],"0.00027),":[43],"with":[44,112,153],"effect":[46],"coming":[47],"mostly":[48],"from":[49],"deletions":[50,73,213],"(odds":[51],"ratio,":[52],"OR":[53,195],"4.53,":[55],"P":[56,68,150,163,198],"0.00013)":[58],"although":[59],"duplications":[60],"also":[62,202],"(OR":[65,147],"1.71,":[67],"0.04).":[70],"Two":[71],"large":[72,142,169],"found":[75,121,185],"two":[77,140],"each,":[79],"but":[80],"no":[82],"controls:":[83],"a":[84,91,97,179,208],"deletion":[85,98,119],"at":[86,101,214],"22q11.2":[87],"known":[88,107],"to":[89,108,114,236],"be":[90],"susceptibility":[92,180],"factor":[93,181],"for":[94,158,182,207],"on":[99,171],"17p12,":[100],"14.0-15.4":[102],"Mb.":[103],"The":[104,117],"latter":[105],"is":[106],"cause":[109],"hereditary":[110],"neuropathy":[111],"liability":[113],"pressure":[115],"palsies.":[116],"same":[118],"was":[120,184],"6":[123,129],"4618":[125],"(0.13%)":[126],"36":[131],"092":[132],"(0.017%)":[133],"re-analysed":[137],"data":[138],"recent":[141],"CNV":[143],"studies":[144,161],"7.82,":[149],"0.001),":[152],"combined":[155],"significance":[156],"level":[157],"all":[159],"three":[160,187],"achieving":[162],"5":[165],"x":[166],"10(-5).":[167],"One":[168],"duplication":[170],"16p13.1,":[172],"which":[173],"has":[174],"previously":[176],"implicated":[177],"as":[178],"autism,":[183],"six":[190],"(0.6%":[192],"versus":[193],"0.2%,":[194],"2.98,":[197],"0.13).":[200],"provide":[203],"first":[205],"support":[206],"recently":[209],"reported":[210],"association":[211],"between":[212],"15q11.2":[215],"0.026).":[220],"This":[221],"study":[222],"confirms":[223],"pathogenesis":[231],"contributes":[235],"growing":[238],"list":[239],"specific":[241],"are":[244],"implicated.":[245]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":7},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":9},{"year":2019,"cited_by_count":11},{"year":2018,"cited_by_count":15},{"year":2017,"cited_by_count":13},{"year":2016,"cited_by_count":19},{"year":2015,"cited_by_count":34},{"year":2014,"cited_by_count":34},{"year":2013,"cited_by_count":38},{"year":2012,"cited_by_count":57}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
