{"id":"https://openalex.org/W1981504013","doi":"https://doi.org/10.1086/522591","title":"Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy","display_name":"Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy","publication_year":2007,"publication_date":"2007-10-19","ids":{"openalex":"https://openalex.org/W1981504013","doi":"https://doi.org/10.1086/522591","mag":"1981504013","pmid":"https://pubmed.ncbi.nlm.nih.gov/17924346","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2265663"},"language":"en","primary_location":{"id":"doi:10.1086/522591","doi":"https://doi.org/10.1086/522591","is_oa":true,"landing_page_url":"https://doi.org/10.1086/522591","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human 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://doi.org/10.1086/522591","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033872267","display_name":"Heather C. Mefford","orcid":"https://orcid.org/0000-0001-7188-522X","observed_orcids":["https://orcid.org/0000-0001-7188-522X"]},"institutions":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Heather C. Mefford","raw_affiliation_strings":["Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA","Department of Genome Sciences University of Washington, Department of Laboratories, Children's Hospital and Regional Medical Center","Division of Medical Genetics University of Washington, Department of Laboratories, Children's Hospital and Regional Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"Department of Genome Sciences University of Washington, Department of Laboratories, Children's Hospital and Regional Medical Center","institution_ids":["https://openalex.org/I1295499534","https://openalex.org/I201448701"]},{"raw_affiliation_string":"Division of Medical Genetics University of Washington, Department of Laboratories, Children's Hospital and Regional Medical Center","institution_ids":["https://openalex.org/I1295499534","https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111924999","display_name":"S\u00e9verine Clauin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"S\u00e9verine Clauin","raw_affiliation_strings":["Center of Molecular Genetics and Cytogenetics, Assistance Publique\u2013H\u00f4pitaux de Paris Piti\u00e9-Salpetri\u00e8re"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center of Molecular Genetics and Cytogenetics, Assistance Publique\u2013H\u00f4pitaux de Paris Piti\u00e9-Salpetri\u00e8re","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073039943","display_name":"Andrew J. Sharp","orcid":"https://orcid.org/0000-0003-1415-5129","observed_orcids":["https://orcid.org/0000-0003-1415-5129"]},"institutions":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew J. Sharp","raw_affiliation_strings":["Department of Genome Sciences University of Washington, Department of Laboratories, Children\u2019s Hospital and Regional Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genome Sciences University of Washington, Department of Laboratories, Children\u2019s Hospital and Regional Medical Center","institution_ids":["https://openalex.org/I1295499534","https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071894755","display_name":"Rikke Steensbjerre M\u00f8ller","orcid":"https://orcid.org/0000-0002-9664-1448","observed_orcids":["https://orcid.org/0000-0002-9664-1448"]},"institutions":[{"id":"https://openalex.org/I124055696","display_name":"University of Copenhagen","ror":"https://ror.org/035b05819","country_code":"DK","type":"education","lineage":["https://openalex.org/I124055696"]},{"id":"https://openalex.org/I4405272343","display_name":"The Danish Epilepsy Association","ror":"https://ror.org/04115b814","country_code":"DK","type":"nonprofit","lineage":["https://openalex.org/I4405272343"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Rikke S. Moller","raw_affiliation_strings":["Danish Epilepsy Centre, Dianalund, Denmark","Wilhelm Johannsen Centre for Functional Genome Research, Copenhagen"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Danish Epilepsy Centre, Dianalund, Denmark","institution_ids":["https://openalex.org/I4405272343"]},{"raw_affiliation_string":"Wilhelm Johannsen Centre for Functional Genome Research, Copenhagen","institution_ids":["https://openalex.org/I124055696"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010530881","display_name":"Reinhard Ullmann","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210142260","display_name":"Max Planck Institute for Molecular Genetics","ror":"https://ror.org/03ate3e03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210142260"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Reinhard Ullmann","raw_affiliation_strings":["Max-Planck Institute of Molecular Genetics, Berlin"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Max-Planck Institute of Molecular Genetics, Berlin","institution_ids":["https://openalex.org/I4210142260"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007946034","display_name":"Raj P. Kapur","orcid":"https://orcid.org/0000-0002-5718-407X","observed_orcids":["https://orcid.org/0000-0002-5718-407X"]},"institutions":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Raj Kapur","raw_affiliation_strings":["University of Washington, Department of Laboratories, Children\u2019s Hospital and Regional Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Washington, Department of Laboratories, Children\u2019s Hospital and Regional Medical Center","institution_ids":["https://openalex.org/I1295499534","https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112904681","display_name":"Dan Pinkel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"id":"https://openalex.org/I4210167126","display_name":"UCSF Helen Diller Family Comprehensive Cancer Center","ror":"https://ror.org/05yndxy10","country_code":"US","type":"facility","lineage":["https://openalex.org/I180670191","https://openalex.org/I4210110664","https://openalex.org/I4210167126"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dan Pinkel","raw_affiliation_strings":["Comprehensive Cancer Center, University of California\u2013San Francisco, San Francisco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Comprehensive Cancer Center, University of California\u2013San Francisco, San Francisco","institution_ids":["https://openalex.org/I180670191","https://openalex.org/I4210167126"]}]},{"author_position":"middle","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":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gregory M. Cooper","raw_affiliation_strings":["Department of Genome Sciences University of Washington, Department of Laboratories, Children\u2019s Hospital and Regional Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genome Sciences University of Washington, Department of Laboratories, Children\u2019s Hospital and Regional Medical Center","institution_ids":["https://openalex.org/I1295499534","https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064065701","display_name":"Mario Ventura","orcid":"https://orcid.org/0000-0001-7762-8777","observed_orcids":["https://orcid.org/0000-0001-7762-8777"]},"institutions":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]},{"id":"https://openalex.org/I5561750","display_name":"University of Bari Aldo Moro","ror":"https://ror.org/027ynra39","country_code":"IT","type":"education","lineage":["https://openalex.org/I5561750"]}],"countries":["IT","US"],"is_corresponding":false,"raw_author_name":"Mario Ventura","raw_affiliation_strings":["Department of Genetics and Microbiology, Universit\u00e1 di Bari, Bari, Italy","Department of Genome Sciences University of Washington, Department of Laboratories, Children\u2019s Hospital and Regional Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Microbiology, Universit\u00e1 di Bari, Bari, Italy","institution_ids":["https://openalex.org/I5561750"]},{"raw_affiliation_string":"Department of Genome Sciences University of Washington, Department of Laboratories, Children\u2019s Hospital and Regional Medical Center","institution_ids":["https://openalex.org/I1295499534","https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009225418","display_name":"Hans\u2010Hilger Ropers","orcid":"https://orcid.org/0000-0002-8552-9813","observed_orcids":["https://orcid.org/0000-0002-8552-9813"]},"institutions":[{"id":"https://openalex.org/I4210142260","display_name":"Max Planck Institute for Molecular Genetics","ror":"https://ror.org/03ate3e03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210142260"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"H. Hilger Ropers","raw_affiliation_strings":["Max-Planck Institute of Molecular Genetics, Berlin"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Max-Planck Institute of Molecular Genetics, Berlin","institution_ids":["https://openalex.org/I4210142260"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041429809","display_name":"Niels Tommerup","orcid":"https://orcid.org/0000-0003-2304-0112","observed_orcids":["https://orcid.org/0000-0003-2304-0112"]},"institutions":[{"id":"https://openalex.org/I124055696","display_name":"University of Copenhagen","ror":"https://ror.org/035b05819","country_code":"DK","type":"education","lineage":["https://openalex.org/I124055696"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Niels Tommerup","raw_affiliation_strings":["Wilhelm Johannsen Centre for Functional Genome Research, Copenhagen"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Wilhelm Johannsen Centre for Functional Genome Research, Copenhagen","institution_ids":["https://openalex.org/I124055696"]}]},{"author_position":"middle","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":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]},{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Evan E. Eichler","raw_affiliation_strings":["Department of Genome Sciences University of Washington, Department of Laboratories, Children\u2019s Hospital and Regional Medical Center","Howard Hughes Medical Institute Seattle"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genome Sciences University of Washington, Department of Laboratories, Children\u2019s Hospital and Regional Medical Center","institution_ids":["https://openalex.org/I1295499534","https://openalex.org/I201448701"]},{"raw_affiliation_string":"Howard Hughes Medical Institute Seattle","institution_ids":["https://openalex.org/I1344073410"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5040184602","display_name":"Christine Bellann\u00e9\u2010Chantelot","orcid":"https://orcid.org/0000-0001-8415-6771","observed_orcids":["https://orcid.org/0000-0001-8415-6771"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405264447","display_name":"Universit\u00e9 Pierre-et-Marie-Curie","ror":"https://ror.org/01yvrd251","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081","https://openalex.org/I4405264447"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Christine Bellanne-Chantelot","raw_affiliation_strings":["Center of Molecular Genetics and Cytogenetics, Assistance Publique\u2013H\u00f4pitaux de Paris Piti\u00e9-Salpetri\u00e8re","Universit\u00e9 Pierre et Marie Curie; Paris;","Paris","Universit\u00e9 Pierre et Marie Curie"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center of Molecular Genetics and Cytogenetics, Assistance Publique\u2013H\u00f4pitaux de Paris Piti\u00e9-Salpetri\u00e8re","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie; Paris;","institution_ids":["https://openalex.org/I4405264447"]},{"raw_affiliation_string":"Paris","institution_ids":[]},{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie","institution_ids":["https://openalex.org/I4405264447"]}]}],"institutions":[],"countries_distinct_count":5,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5014870107"],"corresponding_institution_ids":["https://openalex.org/I1295499534","https://openalex.org/I1344073410","https://openalex.org/I201448701"],"apc_list":{"value":5150,"currency":"USD","value_usd":5150},"apc_paid":null,"fwci":8.189,"has_fulltext":false,"cited_by_count":274,"citation_normalized_percentile":{"value":0.98556833,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":96,"max":100},"biblio":{"volume":"81","issue":"5","first_page":"1057","last_page":"1069"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9980000257492065,"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":0.9980000257492065,"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":0.00139999995008111,"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":9.999999747378752e-05,"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/hnf1b","display_name":"HNF1B","score":0.5950000286102295},{"id":"https://openalex.org/keywords/renal-anomalies","display_name":"renal anomalies","score":0.47600001096725464},{"id":"https://openalex.org/keywords/multicystic-dysplastic-kidney","display_name":"multicystic dysplastic kidney","score":0.9649999737739563},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.8960000276565552},{"id":"https://openalex.org/keywords/microdeletion","display_name":"microdeletion","score":0.7770000100135803},{"id":"https://openalex.org/keywords/microduplication","display_name":"microduplication","score":0.8999999761581421},{"id":"https://openalex.org/keywords/unequal-crossing-over","display_name":"unequal crossover","score":0.847000002861023},{"id":"https://openalex.org/keywords/segmental-duplication","display_name":"segmental duplication","score":0.9010000228881836},{"id":"https://openalex.org/keywords/de-novo-deletion","display_name":"de novo deletion","score":0.8140000104904175},{"id":"https://openalex.org/keywords/phenotypic-spectrum","display_name":"phenotypic spectrum","score":0.7429999709129333}],"concepts":[{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.713740348815918},{"id":"https://openalex.org/C2777742833","wikidata":"https://www.wikidata.org/wiki/Q1964083","display_name":"Reciprocal","level":2,"score":0.6050221920013428},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5751693248748779},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.5379254817962646},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.46890202164649963},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.34896227717399597},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.33978909254074097},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.33644068241119385},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3348362147808075},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.2352142333984375},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.09970703721046448},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.09721368551254272},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.058431535959243774}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001344","descriptor_name":"Autopsy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002886","descriptor_name":"Chromosomes, Human, Pair 17","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003920","descriptor_name":"Diabetes Mellitus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005333","descriptor_name":"Fetus","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007674","descriptor_name":"Kidney Diseases","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D007674","descriptor_name":"Kidney Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009693","descriptor_name":"Nucleic Acid Hybridization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015321","descriptor_name":"Gene Rearrangement","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018628","descriptor_name":"Gene Dosage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020440","descriptor_name":"Gene Duplication","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1086/522591","doi":"https://doi.org/10.1086/522591","is_oa":true,"landing_page_url":"https://doi.org/10.1086/522591","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:17924346","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17924346","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":"American journal of human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2265663","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2265663/","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":"Am J Hum Genet","raw_type":"Text"},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/3e024610-20ec-11dd-bc23-000ea68e967b","doi":null,"is_oa":false,"landing_page_url":"https://researchprofiles.ku.dk/da/publications/3e024610-20ec-11dd-bc23-000ea68e967b","pdf_url":null,"source":{"id":"https://openalex.org/S4306401983","display_name":"Research at the University of Copenhagen (University of Copenhagen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I124055696","host_organization_name":"University of Copenhagen","host_organization_lineage":["https://openalex.org/I124055696"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mefford, H C, Clauin, S, Sharp, A J, M\u00f8ller, R S, Ullmann, R, Kapur, R, Pinkel, D, Cooper, G M, Ventura, M, Ropers, H H, Tommerup, N, Eichler, E E & Bellanne-Chantelot, C 2007, 'Recurrent reciprocal genomic Rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy', American Journal of Human Genetics, vol. 81, no. 5, pp. 1057-1069.","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:edoc.mpg.de:334259","doi":null,"is_oa":false,"landing_page_url":"http://edoc.mpg.de/334259","pdf_url":null,"source":{"id":"https://openalex.org/S4406922265","display_name":"Max Planck Institute for Plasma Physics","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":"American Journal of Human Genetics : AJHG, v.81, 1057-1069 (2007)","raw_type":"Article"},{"id":"pmh:oai:pure.mpg.de:item_1584731","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11858/00-001M-0000-0010-812D-1","pdf_url":null,"source":{"id":"https://openalex.org/S4306400654","display_name":"MPG.PuRe (Max Planck Society)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I149899117","host_organization_name":"Max Planck Society","host_organization_lineage":["https://openalex.org/I149899117"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Human Genetics : AJHG","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:ricerca.uniba.it:11586/105699","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11586/105699","pdf_url":null,"source":{"id":"https://openalex.org/S4377196296","display_name":"CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I5561750","host_organization_name":"University of Bari Aldo Moro","host_organization_lineage":["https://openalex.org/I5561750"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1086/522591","doi":"https://doi.org/10.1086/522591","is_oa":true,"landing_page_url":"https://doi.org/10.1086/522591","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G4683444503","display_name":"Pharmacogenomics and Risk of Cardiovascular Disease","funder_award_id":"U01HL069757","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G6694721115","display_name":"SEGMENTAL ANEUSOMY BETWEEN BLOCKS OF DUPLICATED DNA","funder_award_id":"R01HD043569","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":32,"referenced_works":["https://openalex.org/W1499500424","https://openalex.org/W1971321176","https://openalex.org/W1981913177","https://openalex.org/W2000971189","https://openalex.org/W2002079712","https://openalex.org/W2002969945","https://openalex.org/W2022276281","https://openalex.org/W2043522420","https://openalex.org/W2044110911","https://openalex.org/W2049643291","https://openalex.org/W2080292758","https://openalex.org/W2088848325","https://openalex.org/W2094145003","https://openalex.org/W2095123953","https://openalex.org/W2101446132","https://openalex.org/W2106982327","https://openalex.org/W2110793364","https://openalex.org/W2111453238","https://openalex.org/W2111746502","https://openalex.org/W2125847325","https://openalex.org/W2128115913","https://openalex.org/W2129087747","https://openalex.org/W2140331829","https://openalex.org/W2142701631","https://openalex.org/W2146948473","https://openalex.org/W2151566815","https://openalex.org/W2155677754","https://openalex.org/W2155707112","https://openalex.org/W2160868309","https://openalex.org/W2161409513","https://openalex.org/W2163177727","https://openalex.org/W6629874611"],"related_works":["https://openalex.org/W7140240758","https://openalex.org/W1982966806","https://openalex.org/W4312081029","https://openalex.org/W4402965835","https://openalex.org/W7160892491","https://openalex.org/W1966584689","https://openalex.org/W4417326090","https://openalex.org/W2029678419","https://openalex.org/W2029271848","https://openalex.org/W2947003545"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":19},{"year":2023,"cited_by_count":9},{"year":2022,"cited_by_count":13},{"year":2021,"cited_by_count":15},{"year":2020,"cited_by_count":14},{"year":2019,"cited_by_count":11},{"year":2018,"cited_by_count":16},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":8},{"year":2015,"cited_by_count":17},{"year":2014,"cited_by_count":16},{"year":2013,"cited_by_count":16},{"year":2012,"cited_by_count":20}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}