{"id":"https://openalex.org/W3088044569","doi":"https://doi.org/10.1016/j.jpurol.2020.05.033","title":"Genome-wide association study in Chinese cohort reveals a new susceptibility locus within the 12q13.13 region for hypospadias","display_name":"Genome-wide association study in Chinese cohort reveals a new susceptibility locus within the 12q13.13 region for hypospadias","publication_year":2020,"publication_date":"2020-01-01","ids":{"openalex":"https://openalex.org/W3088044569","doi":"https://doi.org/10.1016/j.jpurol.2020.05.033","mag":"3088044569"},"language":"en","primary_location":{"id":"doi:10.1016/j.jpurol.2020.05.033","doi":"https://doi.org/10.1016/j.jpurol.2020.05.033","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jpurol.2020.05.033","pdf_url":"http://www.jpurol.com/article/S1477513120302011/pdf","source":{"id":"https://openalex.org/S12548615","display_name":"Journal of Pediatric Urology","issn_l":"1477-5131","issn":["1477-5131","1873-4898"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-2","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":"Journal of Pediatric Urology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.jpurol.com/article/S1477513120302011/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5073338579","display_name":"Zhongzhong Chen","orcid":"https://orcid.org/0000-0001-6662-5837","observed_orcids":["https://orcid.org/0000-0001-6662-5837"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I4210159420","display_name":"Shanghai Children's Hospital","ror":"https://ror.org/05pea1m70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159420"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Zhongzhong Chen","raw_affiliation_strings":["Department of Urology, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University, Shanghai 200062, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Urology, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University, Shanghai 200062, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210159420"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081092523","display_name":"Xiaoling Lin","orcid":"https://orcid.org/0009-0004-7129-8104","observed_orcids":["https://orcid.org/0009-0004-7129-8104"]},"institutions":[{"id":"https://openalex.org/I24943067","display_name":"Fudan University","ror":"https://ror.org/013q1eq08","country_code":"CN","type":"education","lineage":["https://openalex.org/I24943067"]},{"id":"https://openalex.org/I4210159575","display_name":"Huashan Hospital","ror":"https://ror.org/05201qm87","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159575"]},{"id":"https://openalex.org/I4391768242","display_name":"State Key Laboratory of Genetic Engineering","ror":"https://ror.org/01n3rg866","country_code":"CN","type":"facility","lineage":["https://openalex.org/I24943067","https://openalex.org/I4391768242"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiaoling Lin","raw_affiliation_strings":["Department of Urology, Huashan Hospital, Fudan University, Shanghai 200040, China","State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai 200438, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Urology, Huashan Hospital, Fudan University, Shanghai 200040, China","institution_ids":["https://openalex.org/I24943067","https://openalex.org/I4210159575"]},{"raw_affiliation_string":"State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai 200438, China","institution_ids":["https://openalex.org/I24943067","https://openalex.org/I4391768242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024860920","display_name":"Yunping Lei","orcid":"https://orcid.org/0000-0003-1504-0884","observed_orcids":["https://orcid.org/0000-0003-1504-0884"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yunping Lei","raw_affiliation_strings":["Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, Texas 77030, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, Texas 77030, USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100737746","display_name":"Haitao Chen","orcid":"https://orcid.org/0000-0001-9937-8676","observed_orcids":["https://orcid.org/0000-0001-9937-8676"]},"institutions":[{"id":"https://openalex.org/I24943067","display_name":"Fudan University","ror":"https://ror.org/013q1eq08","country_code":"CN","type":"education","lineage":["https://openalex.org/I24943067"]},{"id":"https://openalex.org/I4391768242","display_name":"State Key Laboratory of Genetic Engineering","ror":"https://ror.org/01n3rg866","country_code":"CN","type":"facility","lineage":["https://openalex.org/I24943067","https://openalex.org/I4391768242"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Haitao Chen","raw_affiliation_strings":["State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai 200438, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai 200438, China","institution_ids":["https://openalex.org/I24943067","https://openalex.org/I4391768242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075319792","display_name":"Richard H. Finnell","orcid":"https://orcid.org/0000-0002-5962-8754","observed_orcids":["https://orcid.org/0000-0002-5962-8754"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard Finnell","raw_affiliation_strings":["Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, Texas 77030, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, Texas 77030, USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5115602036","display_name":"Yaping Wang","orcid":"https://orcid.org/0000-0002-1115-4879","observed_orcids":["https://orcid.org/0000-0002-1115-4879"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I4210159420","display_name":"Shanghai Children's Hospital","ror":"https://ror.org/05pea1m70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159420"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yaping Wang","raw_affiliation_strings":["Department of Urology, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University, Shanghai 200062, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Urology, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University, Shanghai 200062, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210159420"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031205173","display_name":"Jianfeng Xu","orcid":"https://orcid.org/0000-0002-1343-8752","observed_orcids":["https://orcid.org/0000-0002-1343-8752"]},"institutions":[{"id":"https://openalex.org/I24943067","display_name":"Fudan University","ror":"https://ror.org/013q1eq08","country_code":"CN","type":"education","lineage":["https://openalex.org/I24943067"]},{"id":"https://openalex.org/I4210159575","display_name":"Huashan Hospital","ror":"https://ror.org/05201qm87","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159575"]},{"id":"https://openalex.org/I4391768242","display_name":"State Key Laboratory of Genetic Engineering","ror":"https://ror.org/01n3rg866","country_code":"CN","type":"facility","lineage":["https://openalex.org/I24943067","https://openalex.org/I4391768242"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jianfeng Xu","raw_affiliation_strings":["Department of Urology, Huashan Hospital, Fudan University, Shanghai 200040, China","State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai 200438, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Urology, Huashan Hospital, Fudan University, Shanghai 200040, China","institution_ids":["https://openalex.org/I24943067","https://openalex.org/I4210159575"]},{"raw_affiliation_string":"State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai 200438, China","institution_ids":["https://openalex.org/I24943067","https://openalex.org/I4391768242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100686854","display_name":"Daru Lu","orcid":"https://orcid.org/0000-0001-6748-7966","observed_orcids":["https://orcid.org/0000-0001-6748-7966"]},"institutions":[{"id":"https://openalex.org/I24943067","display_name":"Fudan University","ror":"https://ror.org/013q1eq08","country_code":"CN","type":"education","lineage":["https://openalex.org/I24943067"]},{"id":"https://openalex.org/I4391768242","display_name":"State Key Laboratory of Genetic Engineering","ror":"https://ror.org/01n3rg866","country_code":"CN","type":"facility","lineage":["https://openalex.org/I24943067","https://openalex.org/I4391768242"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Daru Lu","raw_affiliation_strings":["State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai 200438, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai 200438, China","institution_ids":["https://openalex.org/I24943067","https://openalex.org/I4391768242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075124603","display_name":"Hua Xie","orcid":"https://orcid.org/0000-0003-2867-4114","observed_orcids":["https://orcid.org/0000-0003-2867-4114"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I4210159420","display_name":"Shanghai Children's Hospital","ror":"https://ror.org/05pea1m70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159420"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Hua Xie","raw_affiliation_strings":["Department of Urology, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University, Shanghai 200062, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Urology, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University, Shanghai 200062, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210159420"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101965160","display_name":"Fang Chen","orcid":"https://orcid.org/0000-0003-0189-618X","observed_orcids":["https://orcid.org/0000-0003-0189-618X"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I4210144482","display_name":"Shanghai Sixth People's Hospital","ror":"https://ror.org/049zrh188","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210144482"]},{"id":"https://openalex.org/I4210159420","display_name":"Shanghai Children's Hospital","ror":"https://ror.org/05pea1m70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159420"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Fang Chen","raw_affiliation_strings":["Department of Urology, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University, Shanghai 200062, China","Department of Urology, Shanghai Jiao Tong University Affiliated Sixth People\u2019s Hospital, Shanghai 200233, China","Shanghai Eastern Urological Reconstruction and Repair Institute, Shanghai 200233, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Urology, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University, Shanghai 200062, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210159420"]},{"raw_affiliation_string":"Department of Urology, Shanghai Jiao Tong University Affiliated Sixth People\u2019s Hospital, Shanghai 200233, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I4210144482"]},{"raw_affiliation_string":"Shanghai Eastern Urological Reconstruction and Repair Institute, Shanghai 200233, China","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":7,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3300,"currency":"USD","value_usd":3300},"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.20975794,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"16","issue":null,"first_page":"S9","last_page":"S9"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11815","display_name":"Urological Disorders and Treatments","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2748","display_name":"Urology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11815","display_name":"Urological Disorders and Treatments","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2748","display_name":"Urology"},"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":0.00019999999494757503,"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/T11956","display_name":"Sexual Differentiation and Disorders","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/hypospadias","display_name":"hypospadias","score":1.0},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.6710000038146973},{"id":"https://openalex.org/keywords/han-chinese","display_name":"Han Chinese","score":0.7860000133514404},{"id":"https://openalex.org/keywords/congenital-urinary-tract-anomalies","display_name":"congenital urinary tract anomalies","score":0.546999990940094}],"concepts":[{"id":"https://openalex.org/C2777990738","wikidata":"https://www.wikidata.org/wiki/Q1132108","display_name":"Hypospadias","level":2,"score":0.9636064767837524},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.8046520948410034},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7564431428909302},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.6519895792007446},{"id":"https://openalex.org/C3020469904","wikidata":"https://www.wikidata.org/wiki/Q42740","display_name":"Han chinese","level":5,"score":0.6280105113983154},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5463327765464783},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.5391438603401184},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.5062834024429321},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3905082941055298},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.3107350468635559},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.22150126099586487},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.18793171644210815},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.14928752183914185},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.0859098732471466}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.jpurol.2020.05.033","doi":"https://doi.org/10.1016/j.jpurol.2020.05.033","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jpurol.2020.05.033","pdf_url":"http://www.jpurol.com/article/S1477513120302011/pdf","source":{"id":"https://openalex.org/S12548615","display_name":"Journal of Pediatric Urology","issn_l":"1477-5131","issn":["1477-5131","1873-4898"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-2","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":"Journal of Pediatric Urology","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1016/j.jpurol.2020.05.033","doi":"https://doi.org/10.1016/j.jpurol.2020.05.033","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jpurol.2020.05.033","pdf_url":"http://www.jpurol.com/article/S1477513120302011/pdf","source":{"id":"https://openalex.org/S12548615","display_name":"Journal of Pediatric Urology","issn_l":"1477-5131","issn":["1477-5131","1873-4898"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-2","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":"Journal of Pediatric Urology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3088044569.pdf","grobid_xml":"https://content.openalex.org/works/W3088044569.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2994830666","https://openalex.org/W6977274482","https://openalex.org/W6939475881","https://openalex.org/W6977196227","https://openalex.org/W6957969258","https://openalex.org/W6977458826","https://openalex.org/W6920618196","https://openalex.org/W4410153634","https://openalex.org/W2068561627","https://openalex.org/W3157701498"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2020-10-01T00:00:00"}
