{"id":"https://openalex.org/W207220581","doi":"https://doi.org/10.1007/7854_2011_179","title":"Rare Genomic Deletions and Duplications and their Role in Neurodevelopmental Disorders","display_name":"Rare Genomic Deletions and Duplications and their Role in Neurodevelopmental Disorders","publication_year":2011,"publication_date":"2011-01-01","ids":{"openalex":"https://openalex.org/W207220581","doi":"https://doi.org/10.1007/7854_2011_179","mag":"207220581","pmid":"https://pubmed.ncbi.nlm.nih.gov/22241247"},"language":"en","primary_location":{"id":"doi:10.1007/7854_2011_179","doi":"https://doi.org/10.1007/7854_2011_179","is_oa":false,"landing_page_url":"https://doi.org/10.1007/7854_2011_179","pdf_url":null,"source":{"id":"https://openalex.org/S2754447418","display_name":"Current topics in behavioral neurosciences","issn_l":"1866-3370","issn":["1866-3370","1866-3389"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Current Topics in Behavioral Neurosciences","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W4240504704","display_name":"Behavioral Neurogenetics"},"type":"book-chapter","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5066789855","display_name":"Joseph Glessner","orcid":"https://orcid.org/0000-0001-5131-2811","observed_orcids":["https://orcid.org/0000-0001-5131-2811"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Joseph T. Glessner","raw_affiliation_strings":["Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA","THE CHILDREN\u2019S HOSPITAL OF PHILADELPHIA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"THE CHILDREN\u2019S HOSPITAL OF PHILADELPHIA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064040046","display_name":"John J. Connolly","orcid":"https://orcid.org/0000-0003-4396-1226","observed_orcids":["https://orcid.org/0000-0003-4396-1226"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John J.M. Connolly","raw_affiliation_strings":["Center for Applied Genomics, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA, 19104, USA","THE CHILDREN\u2019S HOSPITAL OF PHILADELPHIA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied Genomics, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA, 19104, USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"THE CHILDREN\u2019S HOSPITAL OF PHILADELPHIA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5088244425","display_name":"Hakon H. Hakonarson","orcid":"https://orcid.org/0000-0003-2814-7461","observed_orcids":["https://orcid.org/0000-0003-2814-7461"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Hakon Hakonarson","raw_affiliation_strings":["Center for Applied Genomics, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA, 19104, USA","Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, 19104, USA","Division of Genetics, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA, 19104, USA","The Children\u2019s Hospital of Philadelphia","University of Pennsylvania School of Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied Genomics, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA, 19104, USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, 19104, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Genetics, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA, 19104, USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"The Children\u2019s Hospital of Philadelphia","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"University of Pennsylvania School of Medicine","institution_ids":["https://openalex.org/I79576946"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5088244425"],"corresponding_institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"],"apc_list":null,"apc_paid":null,"fwci":8.1603,"has_fulltext":false,"cited_by_count":22,"citation_normalized_percentile":{"value":0.97381392,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"12","issue":null,"first_page":"345","last_page":"360"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9990000128746033,"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":0.9990000128746033,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.0010000000474974513,"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/T13664","display_name":"Genome Rearrangement Algorithms","score":0.0,"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":0.9670000076293945},{"id":"https://openalex.org/keywords/genomic-deletions","display_name":"genomic deletions","score":0.984000027179718},{"id":"https://openalex.org/keywords/genomic-duplication","display_name":"genomic duplication","score":0.9879999756813049},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.9739999771118164},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.9900000095367432},{"id":"https://openalex.org/keywords/attention-deficit-hyperactivity-disorder","display_name":"attention deficit hyperactivity disorder","score":0.996999979019165},{"id":"https://openalex.org/keywords/schizophrenia","display_name":"schizophrenia","score":1.0},{"id":"https://openalex.org/keywords/structural-variants","display_name":"structural variants","score":0.7369999885559082},{"id":"https://openalex.org/keywords/etiology","display_name":"etiology","score":0.7059999704360962}],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.8415564298629761},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.7960789203643799},{"id":"https://openalex.org/C2779388368","wikidata":"https://www.wikidata.org/wiki/Q3450985","display_name":"Neurodevelopmental disorder","level":3,"score":0.6366692781448364},{"id":"https://openalex.org/C2776412080","wikidata":"https://www.wikidata.org/wiki/Q7431605","display_name":"Schizophrenia (object-oriented programming)","level":2,"score":0.5895735025405884},{"id":"https://openalex.org/C137627325","wikidata":"https://www.wikidata.org/wiki/Q156318","display_name":"Etiology","level":2,"score":0.5101192593574524},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4780193567276001},{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.4329889416694641},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.39003539085388184},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.3728907108306885},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3288962244987488},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.294550359249115},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.2143166959285736},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17585420608520508}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001523","descriptor_name":"Mental Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1007/7854_2011_179","doi":"https://doi.org/10.1007/7854_2011_179","is_oa":false,"landing_page_url":"https://doi.org/10.1007/7854_2011_179","pdf_url":null,"source":{"id":"https://openalex.org/S2754447418","display_name":"Current topics in behavioral neurosciences","issn_l":"1866-3370","issn":["1866-3370","1866-3389"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Current Topics in Behavioral Neurosciences","raw_type":"book-chapter"},{"id":"pmid:22241247","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22241247","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":"Current topics in behavioral neurosciences","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8371999859809875}],"sustainable_development_goals_aurora":[{"display_name":"Zero hunger","id":"https://metadata.un.org/sdg/2","score":0.46000000834465027}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":68,"referenced_works":["https://openalex.org/W181881221","https://openalex.org/W1967990660","https://openalex.org/W1971321176","https://openalex.org/W1973502710","https://openalex.org/W1974760773","https://openalex.org/W1976358763","https://openalex.org/W1976599875","https://openalex.org/W1979641457","https://openalex.org/W1986002337","https://openalex.org/W1992577657","https://openalex.org/W1997031801","https://openalex.org/W1997647094","https://openalex.org/W2002012536","https://openalex.org/W2003388124","https://openalex.org/W2004766618","https://openalex.org/W2005848760","https://openalex.org/W2006473457","https://openalex.org/W2007508740","https://openalex.org/W2013153062","https://openalex.org/W2017929785","https://openalex.org/W2021377987","https://openalex.org/W2021714239","https://openalex.org/W2022421778","https://openalex.org/W2023369015","https://openalex.org/W2025142360","https://openalex.org/W2030092290","https://openalex.org/W2030273467","https://openalex.org/W2032247293","https://openalex.org/W2037784940","https://openalex.org/W2039861170","https://openalex.org/W2050161506","https://openalex.org/W2053725906","https://openalex.org/W2054300703","https://openalex.org/W2055937107","https://openalex.org/W2065141457","https://openalex.org/W2073062083","https://openalex.org/W2075059777","https://openalex.org/W2092825250","https://openalex.org/W2098597355","https://openalex.org/W2106360880","https://openalex.org/W2108284636","https://openalex.org/W2109529720","https://openalex.org/W2110374888","https://openalex.org/W2119907069","https://openalex.org/W2120648845","https://openalex.org/W2125253114","https://openalex.org/W2125486839","https://openalex.org/W2127450586","https://openalex.org/W2129852804","https://openalex.org/W2130842427","https://openalex.org/W2140289804","https://openalex.org/W2140744737","https://openalex.org/W2140968934","https://openalex.org/W2141704631","https://openalex.org/W2144601878","https://openalex.org/W2145048364","https://openalex.org/W2147429782","https://openalex.org/W2149681218","https://openalex.org/W2159511216","https://openalex.org/W2161641617","https://openalex.org/W2162696552","https://openalex.org/W2164136141","https://openalex.org/W2165433062","https://openalex.org/W2171074660","https://openalex.org/W2253685848","https://openalex.org/W4229924429","https://openalex.org/W4243845605","https://openalex.org/W4245696248"],"related_works":["https://openalex.org/W4409785973","https://openalex.org/W4398167541","https://openalex.org/W2555247562","https://openalex.org/W2952505253","https://openalex.org/W2081036744","https://openalex.org/W1681155821","https://openalex.org/W4414293348","https://openalex.org/W2104400619","https://openalex.org/W2978273148","https://openalex.org/W2083283348"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}