{"id":"https://openalex.org/W1997721091","doi":"https://doi.org/10.1038/ng0914-1040a","title":"Corrigendum: A copy number variation morbidity map of developmental delay","display_name":"Corrigendum: A copy number variation morbidity map of developmental delay","publication_year":2014,"publication_date":"2014-08-27","ids":{"openalex":"https://openalex.org/W1997721091","doi":"https://doi.org/10.1038/ng0914-1040a","mag":"1997721091"},"language":"en","primary_location":{"id":"doi:10.1038/ng0914-1040a","doi":"https://doi.org/10.1038/ng0914-1040a","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ng0914-1040a","pdf_url":"https://www.nature.com/articles/ng0914-1040a.pdf","source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"},"volume":null,"type":"erratum","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.nature.com/articles/ng0914-1040a.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5027561780","display_name":"Gregory M. Cooper","orcid":"https://orcid.org/0000-0001-5509-9923","observed_orcids":["https://orcid.org/0000-0001-5509-9923"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gregory M Cooper","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022167873","display_name":"Bradley P. Coe","orcid":"https://orcid.org/0000-0001-8471-4016","observed_orcids":["https://orcid.org/0000-0001-8471-4016"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bradley P Coe","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052791919","display_name":"Santhosh Girirajan","orcid":"https://orcid.org/0000-0003-0598-4945","observed_orcids":["https://orcid.org/0000-0003-0598-4945"]},"institutions":[{"id":"https://openalex.org/I130769515","display_name":"Pennsylvania State University","ror":"https://ror.org/04p491231","country_code":"US","type":"education","lineage":["https://openalex.org/I130769515"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Santhosh Girirajan","raw_affiliation_strings":["Penn State Neuroscience Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Penn State Neuroscience Institute","institution_ids":["https://openalex.org/I130769515"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051066678","display_name":"Jill  Anne Rosenfeld","orcid":"https://orcid.org/0000-0001-5664-7987","observed_orcids":["https://orcid.org/0000-0001-5664-7987"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jill A Rosenfeld","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051708736","display_name":"Tiffany H. Vu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tiffany H Vu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113536165","display_name":"Carl A. Baker","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Carl Baker","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101896596","display_name":"Charles A. Williams","orcid":"https://orcid.org/0000-0001-5401-1475","observed_orcids":["https://orcid.org/0000-0001-5401-1475"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Charles Williams","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109071571","display_name":"Heather Stalker","orcid":"https://orcid.org/0000-0002-5712-7286","observed_orcids":["https://orcid.org/0000-0002-5712-7286"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Heather Stalker","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101944234","display_name":"Rizwan Hamid","orcid":"https://orcid.org/0000-0001-5063-7614","observed_orcids":["https://orcid.org/0000-0001-5063-7614"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rizwan Hamid","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047645444","display_name":"Vickie Hannig","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Vickie Hannig","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111605365","display_name":"Hoda Z Abdel-Hamid","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hoda Abdel-Hamid","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110348481","display_name":"Patricia I. Bader","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Patricia Bader","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006550064","display_name":"Elizabeth McCracken","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Elizabeth McCracken","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112739716","display_name":"Dmitriy Niyazov","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dmitriy Niyazov","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005240191","display_name":"Kathleen A. Leppig","orcid":"https://orcid.org/0000-0002-8678-6221","observed_orcids":["https://orcid.org/0000-0002-8678-6221"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kathleen Leppig","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086393292","display_name":"Heidi A. Thiese","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Heidi Thiese","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077487973","display_name":"Marybeth Hummel","orcid":"https://orcid.org/0000-0002-5588-7847","observed_orcids":["https://orcid.org/0000-0002-5588-7847"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Marybeth Hummel","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108229186","display_name":"Nora Alexander","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Nora Alexander","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110068378","display_name":"Jerome L. Gorski","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jerome Gorski","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075458025","display_name":"Jennifer L. Kussmann","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jennifer Kussmann","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084740808","display_name":"Vandana Shashi","orcid":"https://orcid.org/0000-0002-5011-7501","observed_orcids":["https://orcid.org/0000-0002-5011-7501","https://orcid.org/0000-0002-3763-4643"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Vandana Shashi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113987571","display_name":"Krys Johnson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Krys Johnson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018615078","display_name":"Catherine Weaver Rehder","orcid":"https://orcid.org/0000-0003-4924-9010","observed_orcids":["https://orcid.org/0000-0003-4924-9010"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Catherine Rehder","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018127934","display_name":"Blake C. Ballif","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Blake C Ballif","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070769975","display_name":"Lisa G. Shaffer","orcid":"https://orcid.org/0000-0002-2848-8103","observed_orcids":["https://orcid.org/0000-0002-2848-8103"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lisa G Shaffer","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5014870107","display_name":"Evan E. Eichler","orcid":"https://orcid.org/0000-0002-8246-4014","observed_orcids":["https://orcid.org/0000-0002-8246-4014"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Evan E Eichler","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":12690,"currency":"USD","value_usd":12690},"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":7,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"46","issue":"9","first_page":"1040","last_page":"1040"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9868000149726868,"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":0.9868000149726868,"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":0.004699999932199717,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.004399999976158142,"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":0.9990000128746033},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.9890000224113464},{"id":"https://openalex.org/keywords/penetrance-estimation","display_name":"penetrance estimation","score":0.8799999952316284},{"id":"https://openalex.org/keywords/genetic-association","display_name":"genetic association","score":0.33799999952316284}],"concepts":[{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.8121386766433716},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7697348594665527},{"id":"https://openalex.org/C45235069","wikidata":"https://www.wikidata.org/wiki/Q278425","display_name":"Table (database)","level":2,"score":0.5826997756958008},{"id":"https://openalex.org/C2778334786","wikidata":"https://www.wikidata.org/wiki/Q1586270","display_name":"Variation (astronomy)","level":2,"score":0.5796114206314087},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5669731497764587},{"id":"https://openalex.org/C177264268","wikidata":"https://www.wikidata.org/wiki/Q1514741","display_name":"Set (abstract data type)","level":2,"score":0.46676963567733765},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.4277622699737549},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4239587187767029},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.37122637033462524},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.3140881657600403},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.14104855060577393},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.13853564858436584},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.10277038812637329},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.0785776674747467},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.05393514037132263},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.05184227228164673},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.049541473388671875},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0},{"id":"https://openalex.org/C44870925","wikidata":"https://www.wikidata.org/wiki/Q37547","display_name":"Astrophysics","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1038/ng0914-1040a","doi":"https://doi.org/10.1038/ng0914-1040a","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ng0914-1040a","pdf_url":"https://www.nature.com/articles/ng0914-1040a.pdf","source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1038/ng0914-1040a","doi":"https://doi.org/10.1038/ng0914-1040a","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ng0914-1040a","pdf_url":"https://www.nature.com/articles/ng0914-1040a.pdf","source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.8371999859809875,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1997721091.pdf","grobid_xml":"https://content.openalex.org/works/W1997721091.grobid-xml"},"referenced_works_count":2,"referenced_works":["https://openalex.org/W1557675999","https://openalex.org/W2106650442"],"related_works":["https://openalex.org/W4415210108","https://openalex.org/W4246368504","https://openalex.org/W2022567536","https://openalex.org/W2106650442","https://openalex.org/W4401115920","https://openalex.org/W1964512314","https://openalex.org/W4237105727","https://openalex.org/W2010458876","https://openalex.org/W2015154123","https://openalex.org/W7042776639"],"abstract_inverted_index":null,"counts_by_year":[{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":3},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-03T10:50:19.383937","created_date":"2016-06-24T00:00:00"}