{"id":"https://openalex.org/W3011753678","doi":"https://doi.org/10.3390/jcm9030751","title":"Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract","display_name":"Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract","publication_year":2020,"publication_date":"2020-03-10","ids":{"openalex":"https://openalex.org/W3011753678","doi":"https://doi.org/10.3390/jcm9030751","mag":"3011753678","pmid":"https://pubmed.ncbi.nlm.nih.gov/32164334","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/7141392"},"language":"en","primary_location":{"id":"doi:10.3390/jcm9030751","doi":"https://doi.org/10.3390/jcm9030751","is_oa":true,"landing_page_url":"http://dx.doi.org/10.3390/jcm9030751","pdf_url":"https://www.mdpi.com/2077-0383/9/3/751/pdf?version=1584452984","source":{"id":"https://openalex.org/S2737969411","display_name":"Journal of Clinical Medicine","issn_l":"2077-0383","issn":["2077-0383"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Medicine","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/2077-0383/9/3/751/pdf?version=1584452984","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5091489041","display_name":"Yo Han Ahn","orcid":"https://orcid.org/0000-0002-8185-4408","observed_orcids":["https://orcid.org/0000-0002-8185-4408"]},"institutions":[{"id":"https://openalex.org/I139264467","display_name":"Seoul National University","ror":"https://ror.org/04h9pn542","country_code":"KR","type":"education","lineage":["https://openalex.org/I139264467"]},{"id":"https://openalex.org/I4210104532","display_name":"Seoul National University Children's Hospital","ror":"https://ror.org/01ks0bt75","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I139264467","https://openalex.org/I2802835388","https://openalex.org/I4210104532"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Yo Han Ahn","raw_affiliation_strings":["Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul 03080, Korea","Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul 03080, Korea","institution_ids":["https://openalex.org/I4210104532"]},{"raw_affiliation_string":"Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Korea","institution_ids":["https://openalex.org/I139264467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030411648","display_name":"Chung Lee","orcid":"https://orcid.org/0000-0003-0855-4553","observed_orcids":["https://orcid.org/0000-0003-0855-4553"]},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Chung Lee","raw_affiliation_strings":["Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul 06351, Korea","Samsung Genome Institute, Samsung Medical Center, Seoul 06351, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul 06351, Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Samsung Genome Institute, Samsung Medical Center, Seoul 06351, Korea","institution_ids":["https://openalex.org/I2802194831"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019258410","display_name":"Nayoung K. D. Kim","orcid":"https://orcid.org/0000-0001-8350-6266","observed_orcids":["https://orcid.org/0000-0001-8350-6266","https://orcid.org/0000-0001-7129-9044"]},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Nayoung K. D. Kim","raw_affiliation_strings":["Samsung Genome Institute, Samsung Medical Center, Seoul 06351, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Samsung Genome Institute, Samsung Medical Center, Seoul 06351, Korea","institution_ids":["https://openalex.org/I2802194831"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036555967","display_name":"Eujin Park","orcid":"https://orcid.org/0000-0002-4413-468X","observed_orcids":["https://orcid.org/0000-0002-4413-468X"]},"institutions":[{"id":"https://openalex.org/I139264467","display_name":"Seoul National University","ror":"https://ror.org/04h9pn542","country_code":"KR","type":"education","lineage":["https://openalex.org/I139264467"]},{"id":"https://openalex.org/I146824383","display_name":"Hallym University","ror":"https://ror.org/03sbhge02","country_code":"KR","type":"education","lineage":["https://openalex.org/I146824383"]},{"id":"https://openalex.org/I4210094082","display_name":"Hallym University Kangnam Sacred Heart Hospital","ror":"https://ror.org/00njt2653","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I4210094082","https://openalex.org/I4210167048"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Eujin Park","raw_affiliation_strings":["Department of Pediatrics, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul 07441, Korea","Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Korea"],"raw_orcid":"https://orcid.org/0000-0002-4413-468X","affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul 07441, Korea","institution_ids":["https://openalex.org/I146824383","https://openalex.org/I4210094082"]},{"raw_affiliation_string":"Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Korea","institution_ids":["https://openalex.org/I139264467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012698044","display_name":"Hee Gyung Kang","orcid":"https://orcid.org/0000-0001-8323-5320","observed_orcids":["https://orcid.org/0000-0001-8323-5320"]},"institutions":[{"id":"https://openalex.org/I139264467","display_name":"Seoul National University","ror":"https://ror.org/04h9pn542","country_code":"KR","type":"education","lineage":["https://openalex.org/I139264467"]},{"id":"https://openalex.org/I4210104532","display_name":"Seoul National University Children's Hospital","ror":"https://ror.org/01ks0bt75","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I139264467","https://openalex.org/I2802835388","https://openalex.org/I4210104532"]}],"countries":["KR"],"is_corresponding":true,"raw_author_name":"Hee Gyung Kang","raw_affiliation_strings":["Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul 03080, Korea","Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Korea","Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul 03080, Korea"],"raw_orcid":"https://orcid.org/0000-0001-8323-5320","affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul 03080, Korea","institution_ids":["https://openalex.org/I4210104532"]},{"raw_affiliation_string":"Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Korea","institution_ids":["https://openalex.org/I139264467"]},{"raw_affiliation_string":"Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul 03080, Korea","institution_ids":["https://openalex.org/I139264467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007101454","display_name":"Il Soo Ha","orcid":"https://orcid.org/0000-0001-5428-6209","observed_orcids":["https://orcid.org/0000-0001-5428-6209"]},"institutions":[{"id":"https://openalex.org/I139264467","display_name":"Seoul National University","ror":"https://ror.org/04h9pn542","country_code":"KR","type":"education","lineage":["https://openalex.org/I139264467"]},{"id":"https://openalex.org/I4210104532","display_name":"Seoul National University Children's Hospital","ror":"https://ror.org/01ks0bt75","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I139264467","https://openalex.org/I2802835388","https://openalex.org/I4210104532"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Il-Soo Ha","raw_affiliation_strings":["Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul 03080, Korea","Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Korea","Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul 03080, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul 03080, Korea","institution_ids":["https://openalex.org/I4210104532"]},{"raw_affiliation_string":"Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Korea","institution_ids":["https://openalex.org/I139264467"]},{"raw_affiliation_string":"Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul 03080, Korea","institution_ids":["https://openalex.org/I139264467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003283147","display_name":"Woong\u2010Yang Park","orcid":"https://orcid.org/0000-0003-4234-0380","observed_orcids":["https://orcid.org/0000-0003-4234-0380"]},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Woong-Yang Park","raw_affiliation_strings":["Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul 06351, Korea","Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon 16419, Korea","Samsung Genome Institute, Samsung Medical Center, Seoul 06351, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul 06351, Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon 16419, Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Samsung Genome Institute, Samsung Medical Center, Seoul 06351, Korea","institution_ids":["https://openalex.org/I2802194831"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5018210961","display_name":"Hae Il Cheong","orcid":"https://orcid.org/0000-0001-7556-1265","observed_orcids":["https://orcid.org/0000-0001-7556-1265"]},"institutions":[{"id":"https://openalex.org/I139264467","display_name":"Seoul National University","ror":"https://ror.org/04h9pn542","country_code":"KR","type":"education","lineage":["https://openalex.org/I139264467"]},{"id":"https://openalex.org/I4210104532","display_name":"Seoul National University Children's Hospital","ror":"https://ror.org/01ks0bt75","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I139264467","https://openalex.org/I2802835388","https://openalex.org/I4210104532"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Hae Il Cheong","raw_affiliation_strings":["Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul 03080, Korea","Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Korea","Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul 03080, Korea"],"raw_orcid":"https://orcid.org/0000-0001-7556-1265","affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul 03080, Korea","institution_ids":["https://openalex.org/I4210104532"]},{"raw_affiliation_string":"Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Korea","institution_ids":["https://openalex.org/I139264467"]},{"raw_affiliation_string":"Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul 03080, Korea","institution_ids":["https://openalex.org/I139264467"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5012698044"],"corresponding_institution_ids":["https://openalex.org/I139264467","https://openalex.org/I4210104532"],"apc_list":{"value":2200,"currency":"CHF","value_usd":2324},"apc_paid":{"value":2200,"currency":"CHF","value_usd":2324},"fwci":6.2618,"has_fulltext":true,"cited_by_count":27,"citation_normalized_percentile":{"value":0.9694829,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"9","issue":"3","first_page":"751","last_page":"751"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11815","display_name":"Urological Disorders and Treatments","score":0.2992999851703644,"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":0.2992999851703644,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.2741999924182892,"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/T11174","display_name":"Pediatric Urology and Nephrology Studies","score":0.2653999924659729,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-anomalies-of-the-kidney-and-urinary-tract","display_name":"congenital anomalies of the kidney and urinary tract","score":0.996999979019165},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.8500000238418579},{"id":"https://openalex.org/keywords/targeted-exome-sequencing","display_name":"targeted exome sequencing","score":0.9679999947547913},{"id":"https://openalex.org/keywords/single-nucleotide-variants","display_name":"single nucleotide variants","score":0.7720000147819519},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.9470000267028809},{"id":"https://openalex.org/keywords/hnf1b","display_name":"HNF1B","score":0.9900000095367432},{"id":"https://openalex.org/keywords/pax2","display_name":"PAX2","score":0.9990000128746033},{"id":"https://openalex.org/keywords/eya1","display_name":"EYA1","score":1.0},{"id":"https://openalex.org/keywords/fras1","display_name":"FRAS1","score":0.9900000095367432},{"id":"https://openalex.org/keywords/chd1l","display_name":"CHD1L","score":0.9990000128746033},{"id":"https://openalex.org/keywords/pediatric-chronic-kidney-disease","display_name":"pediatric chronic kidney disease","score":0.7799999713897705},{"id":"https://openalex.org/keywords/korean-children","display_name":"Korean children","score":0.878000020980835}],"concepts":[{"id":"https://openalex.org/C136013683","wikidata":"https://www.wikidata.org/wiki/Q21119107","display_name":"HNF1B","level":5,"score":0.8664137721061707},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7533007860183716},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7183169722557068},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5659674406051636},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5153436064720154},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.48793360590934753},{"id":"https://openalex.org/C23085057","wikidata":"https://www.wikidata.org/wiki/Q5532877","display_name":"Genetic analysis","level":3,"score":0.486505925655365},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.434257447719574},{"id":"https://openalex.org/C77411442","wikidata":"https://www.wikidata.org/wiki/Q181100","display_name":"Urinary system","level":2,"score":0.4218143820762634},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.37897631525993347},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.22357600927352905},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.1965768039226532},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.13361668586730957},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.09717020392417908},{"id":"https://openalex.org/C121587040","wikidata":"https://www.wikidata.org/wiki/Q898769","display_name":"Homeobox","level":4,"score":0.08321264386177063},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.3390/jcm9030751","doi":"https://doi.org/10.3390/jcm9030751","is_oa":true,"landing_page_url":"http://dx.doi.org/10.3390/jcm9030751","pdf_url":"https://www.mdpi.com/2077-0383/9/3/751/pdf?version=1584452984","source":{"id":"https://openalex.org/S2737969411","display_name":"Journal of Clinical Medicine","issn_l":"2077-0383","issn":["2077-0383"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Medicine","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:7141392","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7141392","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Clin Med","raw_type":"Text"},{"id":"pmid:32164334","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32164334","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":"Journal of clinical medicine","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:8e745c5f15494db8993cbb23abfc2e42","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/8e745c5f15494db8993cbb23abfc2e42","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","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":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Clinical Medicine, Vol 9, Iss 3, p 751 (2020)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3390/jcm9030751","doi":"https://doi.org/10.3390/jcm9030751","is_oa":true,"landing_page_url":"http://dx.doi.org/10.3390/jcm9030751","pdf_url":"https://www.mdpi.com/2077-0383/9/3/751/pdf?version=1584452984","source":{"id":"https://openalex.org/S2737969411","display_name":"Journal of Clinical Medicine","issn_l":"2077-0383","issn":["2077-0383"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1674473555","display_name":null,"funder_award_id":"HI18C0013","funder_id":"https://openalex.org/F4320322107","funder_display_name":"Korea Health Industry Development Institute"}],"funders":[{"id":"https://openalex.org/F4320322107","display_name":"Korea Health Industry Development Institute","ror":"https://ror.org/00fdzyk40"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3011753678.pdf","grobid_xml":"https://content.openalex.org/works/W3011753678.grobid-xml"},"referenced_works_count":51,"referenced_works":["https://openalex.org/W1133571833","https://openalex.org/W1771101363","https://openalex.org/W1773442406","https://openalex.org/W1966786568","https://openalex.org/W1969381388","https://openalex.org/W1976408610","https://openalex.org/W1977032251","https://openalex.org/W1981504013","https://openalex.org/W1981673938","https://openalex.org/W1982966806","https://openalex.org/W1984067034","https://openalex.org/W1984068087","https://openalex.org/W1995758506","https://openalex.org/W2003063028","https://openalex.org/W2003163571","https://openalex.org/W2015969984","https://openalex.org/W2023013441","https://openalex.org/W2028884725","https://openalex.org/W2029457763","https://openalex.org/W2033338117","https://openalex.org/W2043135940","https://openalex.org/W2051978340","https://openalex.org/W2065004259","https://openalex.org/W2103441770","https://openalex.org/W2107237646","https://openalex.org/W2108234281","https://openalex.org/W2110793364","https://openalex.org/W2119180969","https://openalex.org/W2121743400","https://openalex.org/W2121950137","https://openalex.org/W2139872889","https://openalex.org/W2152079029","https://openalex.org/W2161586867","https://openalex.org/W2161949692","https://openalex.org/W2164130717","https://openalex.org/W2170531623","https://openalex.org/W2171377237","https://openalex.org/W2227226708","https://openalex.org/W2303661378","https://openalex.org/W2466526019","https://openalex.org/W2521487197","https://openalex.org/W2590327141","https://openalex.org/W2604621762","https://openalex.org/W2729513220","https://openalex.org/W2766097594","https://openalex.org/W2782121072","https://openalex.org/W2888728741","https://openalex.org/W2899668339","https://openalex.org/W2934457664","https://openalex.org/W2949967641","https://openalex.org/W6719919284"],"related_works":["https://openalex.org/W2775624638","https://openalex.org/W2619033859","https://openalex.org/W2888728741","https://openalex.org/W4396999368","https://openalex.org/W4396999057","https://openalex.org/W2345421927","https://openalex.org/W4327677060","https://openalex.org/W4400151887","https://openalex.org/W2065104087","https://openalex.org/W7221504927"],"abstract_inverted_index":{"Congenital":[0],"anomalies":[1],"of":[2,14,25,36,47,59,77,86,106,131,152,159],"the":[3,10,78,147],"kidney":[4,16],"and":[5,95,114],"urinary":[6],"tract":[7],"(CAKUT)":[8],"are":[9,174],"most":[11],"common":[12],"cause":[13,64],"chronic":[15],"disease":[17],"in":[18,32,49,66,75,99,111,167],"children.":[19],"The":[20],"search":[21],"for":[22],"genetic":[23,30,45,73,149],"causes":[24,46,74],"CAKUT":[26,37,48,65,125],"has":[27],"led":[28],"to":[29,63,124,163,181],"diagnosis":[31],"approximately":[33],"5\u201320":[34],"%":[35],"patients":[38,108,154,160],"from":[39],"Western":[40],"countries.":[41],"In":[42],"this":[43],"study,":[44],"Korean":[50,153],"children":[51],"were":[52,97,109,161],"sought":[53],"using":[54],"targeted":[55,132],"exome":[56],"sequencing":[57],"(TES)":[58],"60":[60],"genes":[61,133,177],"reported":[62],"human":[67],"or":[68,178],"murine":[69],"models.":[70],"We":[71],"identified":[72],"13.8%":[76],"94":[79],"recruited":[80],"patients.":[81],"Pathogenic":[82,102],"single":[83],"nucleotide":[84],"variants":[85,130],"five":[87],"known":[88,168],"disease-causing":[89],"genes,":[90,170],"HNF1B,":[91,112],"PAX2,":[92],"EYA1,":[93,113],"UPK3A,":[94],"FRAS1":[96],"found":[98,110,162],"7":[100],"cases.":[101],"copy":[103],"number":[104],"variations":[105],"6":[107],"CHD1L.":[115],"Genetic":[116],"abnormality":[117],"types":[118],"did":[119],"not":[120],"significantly":[121],"differ":[122],"according":[123],"phenotypes.":[126],"Patients":[127],"with":[128,155],"pathogenic":[129,165],"had":[134],"syndromic":[135],"features":[136],"more":[137,175],"frequently":[138],"than":[139],"those":[140],"without":[141],"(p":[142],"<":[143],"0.001).":[144],"This":[145],"is":[146],"first":[148],"analysis":[150],"study":[151],"CAKUT.":[156],"Only":[157],"one-seventh":[158],"have":[164],"mutations":[166],"CAKUT-related":[169],"indicating":[171],"that":[172],"there":[173],"CAKUT-causing":[176],"environmental":[179],"factors":[180],"discover.":[182]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":9},{"year":2022,"cited_by_count":8},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":1}],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2020-03-23T00:00:00"}