{"id":"https://openalex.org/W4295756088","doi":"https://doi.org/10.1038/s41431-022-01177-9","title":"Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study","display_name":"Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study","publication_year":2022,"publication_date":"2022-09-13","ids":{"openalex":"https://openalex.org/W4295756088","doi":"https://doi.org/10.1038/s41431-022-01177-9","pmid":"https://pubmed.ncbi.nlm.nih.gov/36100708","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9712573"},"language":"en","primary_location":{"id":"doi:10.1038/s41431-022-01177-9","doi":"https://doi.org/10.1038/s41431-022-01177-9","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41431-022-01177-9","pdf_url":"https://www.nature.com/articles/s41431-022-01177-9.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://www.nature.com/articles/s41431-022-01177-9.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5067753808","display_name":"Bernt Popp","orcid":"https://orcid.org/0000-0002-3679-1081","observed_orcids":["https://orcid.org/0000-0002-3679-1081"]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]},{"id":"https://openalex.org/I4210088053","display_name":"Universit\u00e4tsklinikum Erlangen","ror":"https://ror.org/0030f2a11","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210088053"]},{"id":"https://openalex.org/I4210125843","display_name":"University Hospital Leipzig","ror":"https://ror.org/028hv5492","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210125843"]},{"id":"https://openalex.org/I4210139777","display_name":"Berlin Institute of Health at Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/0493xsw21","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210139777","https://openalex.org/I7877124"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Bernt Popp","raw_affiliation_strings":["Berlin Institute of Health at Charit\u00e9 - Universit\u00e4tsmedizin Berlin, Center of Functional Genomics, Hessische Stra\u00dfe 4A, 10115, Berlin, Germany","Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany"],"raw_orcid":"https://orcid.org/0000-0002-3679-1081","affiliations":[{"raw_affiliation_string":"Berlin Institute of Health at Charit\u00e9 - Universit\u00e4tsmedizin Berlin, Center of Functional Genomics, Hessische Stra\u00dfe 4A, 10115, Berlin, Germany","institution_ids":["https://openalex.org/I4210139777","https://openalex.org/I7877124"]},{"raw_affiliation_string":"Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854","https://openalex.org/I4210088053"]},{"raw_affiliation_string":"Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany","institution_ids":["https://openalex.org/I4210125843"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044952697","display_name":"Arif B\u00fclent Ekici","orcid":"https://orcid.org/0000-0001-6099-7066","observed_orcids":["https://orcid.org/0000-0001-6099-7066"]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]},{"id":"https://openalex.org/I4210088053","display_name":"Universit\u00e4tsklinikum Erlangen","ror":"https://ror.org/0030f2a11","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210088053"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Arif B. Ekici","raw_affiliation_strings":["Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany"],"raw_orcid":"https://orcid.org/0000-0001-6099-7066","affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854","https://openalex.org/I4210088053"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068032065","display_name":"Karl Xaver Knaup","orcid":"https://orcid.org/0000-0003-1803-4463","observed_orcids":["https://orcid.org/0000-0003-1803-4463"]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]},{"id":"https://openalex.org/I4210088053","display_name":"Universit\u00e4tsklinikum Erlangen","ror":"https://ror.org/0030f2a11","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210088053"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Karl X. Knaup","raw_affiliation_strings":["Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854","https://openalex.org/I4210088053"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Karen Schneider","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]},{"id":"https://openalex.org/I4210088053","display_name":"Universit\u00e4tsklinikum Erlangen","ror":"https://ror.org/0030f2a11","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210088053"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Karen Schneider","raw_affiliation_strings":["Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854","https://openalex.org/I4210088053"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036137995","display_name":"Steffen Uebe","orcid":"https://orcid.org/0000-0002-4819-7637","observed_orcids":["https://orcid.org/0000-0002-4819-7637"]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]},{"id":"https://openalex.org/I4210088053","display_name":"Universit\u00e4tsklinikum Erlangen","ror":"https://ror.org/0030f2a11","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210088053"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Steffen Uebe","raw_affiliation_strings":["Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854","https://openalex.org/I4210088053"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080762084","display_name":"Jonghun Park","orcid":"https://orcid.org/0000-0002-0001-0554","observed_orcids":["https://orcid.org/0000-0002-0001-0554"]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jonghun Park","raw_affiliation_strings":["Department of Computer Science & Engineering, University of California, San Diego, La Jolla, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Computer Science & Engineering, University of California, San Diego, La Jolla, CA, USA","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028801735","display_name":"Vineet Bafna","orcid":"https://orcid.org/0000-0002-5810-6241","observed_orcids":["https://orcid.org/0000-0002-5810-6241"]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Vineet Bafna","raw_affiliation_strings":["Department of Computer Science & Engineering, University of California, San Diego, La Jolla, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Computer Science & Engineering, University of California, San Diego, La Jolla, CA, USA","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008646033","display_name":"Heike Meiselbach","orcid":"https://orcid.org/0000-0001-5163-8264","observed_orcids":["https://orcid.org/0000-0001-5163-8264"]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]},{"id":"https://openalex.org/I4210088053","display_name":"Universit\u00e4tsklinikum Erlangen","ror":"https://ror.org/0030f2a11","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210088053"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Heike Meiselbach","raw_affiliation_strings":["Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany"],"raw_orcid":"https://orcid.org/0000-0001-5163-8264","affiliations":[{"raw_affiliation_string":"Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854","https://openalex.org/I4210088053"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066841350","display_name":"Kai\u2010Uwe Eckardt","orcid":"https://orcid.org/0000-0003-3823-0920","observed_orcids":["https://orcid.org/0000-0003-3823-0920","https://orcid.org/0000-0001-8345-4371"]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]},{"id":"https://openalex.org/I4210088053","display_name":"Universit\u00e4tsklinikum Erlangen","ror":"https://ror.org/0030f2a11","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210088053"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Kai-Uwe Eckardt","raw_affiliation_strings":["Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","Department of Nephrology and Medical Intensive Care, Charit\u00e9 Universit\u00e4tsmedizin Berlin, Berlin, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854","https://openalex.org/I4210088053"]},{"raw_affiliation_string":"Department of Nephrology and Medical Intensive Care, Charit\u00e9 Universit\u00e4tsmedizin Berlin, Berlin, Germany","institution_ids":["https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072552734","display_name":"Mario Schiffer","orcid":"https://orcid.org/0000-0002-8414-1470","observed_orcids":["https://orcid.org/0000-0002-8414-1470"]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]},{"id":"https://openalex.org/I4210088053","display_name":"Universit\u00e4tsklinikum Erlangen","ror":"https://ror.org/0030f2a11","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210088053"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Mario Schiffer","raw_affiliation_strings":["Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854","https://openalex.org/I4210088053"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082130600","display_name":"Andr\u00e9 Reis","orcid":"https://orcid.org/0000-0002-6301-6363","observed_orcids":["https://orcid.org/0000-0002-6301-6363"]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]},{"id":"https://openalex.org/I4210088053","display_name":"Universit\u00e4tsklinikum Erlangen","ror":"https://ror.org/0030f2a11","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210088053"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Andr\u00e9 Reis","raw_affiliation_strings":["Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany"],"raw_orcid":"https://orcid.org/0000-0002-6301-6363","affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854","https://openalex.org/I4210088053"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080566676","display_name":"Cornelia S. Kraus","orcid":"https://orcid.org/0000-0002-9885-0366","observed_orcids":["https://orcid.org/0000-0002-9885-0366"]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]},{"id":"https://openalex.org/I4210088053","display_name":"Universit\u00e4tsklinikum Erlangen","ror":"https://ror.org/0030f2a11","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210088053"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Cornelia Kraus","raw_affiliation_strings":["Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854","https://openalex.org/I4210088053"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5001373461","display_name":"Michael Sean Wiesener","orcid":"https://orcid.org/0000-0003-4992-3132","observed_orcids":["https://orcid.org/0000-0003-4992-3132"]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]},{"id":"https://openalex.org/I4210088053","display_name":"Universit\u00e4tsklinikum Erlangen","ror":"https://ror.org/0030f2a11","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210088053"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Michael Wiesener","raw_affiliation_strings":["Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany. michael.wiesener@uk-erlangen.de","Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany"],"raw_orcid":"https://orcid.org/0000-0003-4992-3132","affiliations":[{"raw_affiliation_string":"Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany. michael.wiesener@uk-erlangen.de","institution_ids":["https://openalex.org/I181369854","https://openalex.org/I4210088053"]},{"raw_affiliation_string":"Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander Universit\u00e4t Erlangen-N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854","https://openalex.org/I4210088053"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5001373461"],"corresponding_institution_ids":["https://openalex.org/I181369854","https://openalex.org/I4210088053"],"apc_list":{"value":3380,"currency":"USD","value_usd":3380},"apc_paid":{"value":3380,"currency":"USD","value_usd":3380},"fwci":2.4031,"has_fulltext":true,"cited_by_count":22,"citation_normalized_percentile":{"value":0.89635213,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"30","issue":"12","first_page":"1413","last_page":"1422"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.38940000534057617,"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/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.38940000534057617,"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":0.3582000136375427,"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/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.15760000050067902,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/tubulointerstitial-kidney-disease","display_name":"tubulointerstitial kidney disease","score":0.9810000061988831},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.7419999837875366},{"id":"https://openalex.org/keywords/col4a5","display_name":"COL4A5","score":0.8970000147819519},{"id":"https://openalex.org/keywords/uromodulin","display_name":"uromodulin","score":0.6600000262260437},{"id":"https://openalex.org/keywords/hnf1b","display_name":"HNF1B","score":0.9919999837875366},{"id":"https://openalex.org/keywords/mean-time-to-failure","display_name":"mean time to failure","score":0.6370000243186951},{"id":"https://openalex.org/keywords/muc1","display_name":"MUC1","score":0.5839999914169312},{"id":"https://openalex.org/keywords/tubulointerstitial-fibrosis","display_name":"tubulointerstitial fibrosis","score":0.8820000290870667},{"id":"https://openalex.org/keywords/phenocopy","display_name":"phenocopy","score":0.6840000152587891},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.7570000290870667},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.597000002861023}],"concepts":[{"id":"https://openalex.org/C12387725","wikidata":"https://www.wikidata.org/wiki/Q937024","display_name":"Phenocopy","level":4,"score":0.6366591453552246},{"id":"https://openalex.org/C2778653478","wikidata":"https://www.wikidata.org/wiki/Q1054718","display_name":"Kidney disease","level":2,"score":0.6199272871017456},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5288808345794678},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5171460509300232},{"id":"https://openalex.org/C136013683","wikidata":"https://www.wikidata.org/wiki/Q21119107","display_name":"HNF1B","level":5,"score":0.5169112682342529},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.4436258375644684},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4319272041320801},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.41016989946365356},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.380234956741333},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.32090508937835693},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.29154059290885925},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24704992771148682},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.19679048657417297},{"id":"https://openalex.org/C121587040","wikidata":"https://www.wikidata.org/wiki/Q898769","display_name":"Homeobox","level":4,"score":0.0},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009394","descriptor_name":"Nephritis, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009395","descriptor_name":"Nephritis, Interstitial","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009395","descriptor_name":"Nephritis, Interstitial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009395","descriptor_name":"Nephritis, Interstitial","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051436","descriptor_name":"Renal Insufficiency, Chronic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D051436","descriptor_name":"Renal Insufficiency, Chronic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051436","descriptor_name":"Renal Insufficiency, Chronic","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1038/s41431-022-01177-9","doi":"https://doi.org/10.1038/s41431-022-01177-9","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41431-022-01177-9","pdf_url":"https://www.nature.com/articles/s41431-022-01177-9.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},{"id":"doi:10.1101/2021.09.29.21264100","doi":"https://doi.org/10.1101/2021.09.29.21264100","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2021.09.29.21264100","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2021/09/30/2021.09.29.21264100.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:9712573","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9712573","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":"Eur J Hum Genet","raw_type":"Text"},{"id":"pmid:36100708","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/36100708","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":"European journal of human genetics : EJHG","raw_type":"Journal Article"},{"id":"pmh:oai:escholarship.org:ark:/13030/qt98q5n7mk","doi":null,"is_oa":true,"landing_page_url":"https://escholarship.org/uc/item/98q5n7mk","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"European Journal of Human Genetics, vol 30, iss 12","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1038/s41431-022-01177-9","doi":"https://doi.org/10.1038/s41431-022-01177-9","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41431-022-01177-9","pdf_url":"https://www.nature.com/articles/s41431-022-01177-9.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European 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":1.0}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1629332486","display_name":null,"funder_award_id":"PO2366/2\u20131","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G3055204393","display_name":null,"funder_award_id":"SFB-1350","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G3831163817","display_name":"SFB 1350: Tubulussystem und Interstitium der Niere: (Patho)Physiologie und Crosstalk","funder_award_id":"387509280","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G3951575103","display_name":null,"funder_award_id":"SFB1350 TPC4","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G594088947","display_name":null,"funder_award_id":"TP C4","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G9000883565","display_name":"Computational methods for detecting patterns of complex genomic variation","funder_award_id":"R01GM114362","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G9000912216","display_name":"Refining Mendelian disease analysis via detection of clinically relevant repeat variants","funder_award_id":"R01HG010149","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"}],"funders":[{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320321114","display_name":"Bundesministerium f\u00fcr Bildung und Forschung","ror":"https://ror.org/04pz7b180"},{"id":"https://openalex.org/F4320323383","display_name":"Technische Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/02kkvpp62"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4295756088.pdf","grobid_xml":"https://content.openalex.org/works/W4295756088.grobid-xml"},"referenced_works_count":63,"referenced_works":["https://openalex.org/W1965071252","https://openalex.org/W1968635717","https://openalex.org/W1991897687","https://openalex.org/W2010595044","https://openalex.org/W2029641872","https://openalex.org/W2046122623","https://openalex.org/W2051718666","https://openalex.org/W2051978340","https://openalex.org/W2053128888","https://openalex.org/W2063848155","https://openalex.org/W2071767704","https://openalex.org/W2088338354","https://openalex.org/W2099760312","https://openalex.org/W2100526574","https://openalex.org/W2105017977","https://openalex.org/W2106578986","https://openalex.org/W2117856964","https://openalex.org/W2119180969","https://openalex.org/W2121112464","https://openalex.org/W2122084492","https://openalex.org/W2123876487","https://openalex.org/W2147592920","https://openalex.org/W2147730695","https://openalex.org/W2154241726","https://openalex.org/W2227226708","https://openalex.org/W2337209831","https://openalex.org/W2471427314","https://openalex.org/W2559986308","https://openalex.org/W2560641002","https://openalex.org/W2593241914","https://openalex.org/W2607179358","https://openalex.org/W2675830805","https://openalex.org/W2770026599","https://openalex.org/W2770095154","https://openalex.org/W2783075063","https://openalex.org/W2790911965","https://openalex.org/W2810271829","https://openalex.org/W2883755980","https://openalex.org/W2893980705","https://openalex.org/W2903180508","https://openalex.org/W2905452503","https://openalex.org/W2906428833","https://openalex.org/W2971631529","https://openalex.org/W2972577636","https://openalex.org/W2972952970","https://openalex.org/W2987698229","https://openalex.org/W2989680796","https://openalex.org/W3020252211","https://openalex.org/W3020743169","https://openalex.org/W3021986985","https://openalex.org/W3028255664","https://openalex.org/W3041995830","https://openalex.org/W3107322429","https://openalex.org/W3112866005","https://openalex.org/W3151638007","https://openalex.org/W3162351393","https://openalex.org/W3179183153","https://openalex.org/W4205556294","https://openalex.org/W4210952482","https://openalex.org/W4281572263","https://openalex.org/W4285719527","https://openalex.org/W4285809662","https://openalex.org/W4393790979"],"related_works":["https://openalex.org/W4396991555","https://openalex.org/W4415423543","https://openalex.org/W4367300564","https://openalex.org/W2938154758","https://openalex.org/W4229080798","https://openalex.org/W7130313344","https://openalex.org/W4403832079","https://openalex.org/W4397024597","https://openalex.org/W4298087224","https://openalex.org/W4367051082"],"abstract_inverted_index":{"ABSTRACT":[0],"Exome":[1],"sequencing":[2,314],"(ES)":[3],"studies":[4,252],"in":[5,15,65,84,105,116,141,149,173,196,268,297],"chronic":[6],"kidney":[7,26,201,273,282,341],"disease":[8,194],"(CKD)":[9],"cohorts":[10],"could":[11,165],"identify":[12,167],"pathogenic":[13,76,137],"variants":[14,104,138,145,195,219],"\u223c10%":[16],"of":[17,22,146,152,187,246,280,294,306,321],"patients.":[18],"This":[19],"implies":[20],"underdiagnosis":[21],"hereditary":[23,281,339],"CKD.":[24],"Tubulointerstitial":[25,272],"diseases,":[27,263],"showing":[28],"no":[29],"typical":[30,169],"clinical/histologic":[31],"finding":[32],"but":[33],"tubulointerstitial":[34,200,340],"fibrosis,":[35],"are":[36,210,265,275],"particularly":[37,277],"difficult":[38,278],"to":[39,53,261,284,327],"diagnose.":[40],"We":[41,73,100,216],"used":[42],"a":[43,108,112,127,132,255,276,298,304,311,338],"custom":[44,312],"designed":[45,310],"targeted":[46],"panel":[47,313],"(29":[48],"genes)":[49],"and":[50,111,118,131,144,250,288,309,330],"MUC1":[51,163,179],"-SNaPshot":[52],"sequence":[54],"271":[55],"DNA":[56],"samples,":[57],"selected":[58,153],"by":[59,222],"clinical":[60,191,213,270,307],"criteria":[61,233,308],"from":[62],"5,217":[63],"individuals":[64,96,188],"the":[66,86,119,168,205,231,247,269,292,318],"German":[67],"Chronic":[68],"Kidney":[69],"Disease":[70],"(GCKD)":[71],"cohort.":[72],"identified":[74,126,218],"33":[75],"small":[77],"variants.":[78],"Of":[79],"these":[80,295],"27":[81],"(81.8%)":[82],"were":[83,139],"COL4-genes,":[85],"largest":[87,206],"group":[88,279],"being":[89],"15":[90],"COL4A5":[91],"-variants":[92],"with":[93,158,189,199,334],"nine":[94],"unrelated":[95],"carrying":[97],"c.1871G>A,":[98],"p.(Gly624Asp).":[99],"found":[101],"three":[102],"cysteine":[103],"UMOD":[106],",":[107],"novel":[109,113],"missense,":[110],"splice":[114],"variant":[115,122],"HNF1B":[117,133],"homoplastic":[120],"MTTF":[121],"m.616T>C.":[123],"Copy-number":[124],"analysis":[125],"heterozygous":[128],"COL4A5-":[129],"deletion,":[130],"-duplication/-deletion,":[134],"respectively.":[135],"Overall,":[136],"present":[140],"12.5%":[142],"(34/271)":[143],"unknown":[147],"significance":[148],"9.6%":[150],"(26/271)":[151],"individuals.":[154],"Bioinformatic":[155],"predictions":[156],"paired":[157],"gold":[159],"standard":[160],"diagnostics":[161],"for":[162,236,337],"(SNaPshot)":[164],"not":[166],"cytosine":[170],"duplication":[171],"(\u201cc.428dupC\u201d)":[172],"any":[174],"individual,":[175],"implying":[176,208],"that":[177,185,230,254],"ADTKD-":[178],"is":[180],"rare.":[181],"Our":[182],"study":[183],"shows":[184],">10%":[186,245],"certain":[190],"features":[192],"carry":[193],"genes":[197],"associated":[198],"diseases.":[202],"COL4-genes":[203],"constitute":[204],"fraction,":[207],"they":[209],"overlooked":[211],"using":[212],"Alport-syndrome":[214],"criteria.":[215],"also":[217],"easily":[220],"missed":[221],"some":[223],"ES":[224],"pipelines.":[225],"Finally,":[226],"our":[227],"results":[228],"indicate":[229],"filtering":[232],"applied":[234],"enrich":[235],"an":[237,325],"underlying":[238],"genetic":[239],"disorder.":[240],"SIGNIFICANCE":[241],"STATEMENT":[242],"CKD":[243,300],"affects":[244],"global":[248],"population":[249],"recent":[251],"imply":[253],"considerable":[256],"portion":[257],"can":[258],"be":[259],"attributed":[260],"monogenic":[262],"which":[264],"likely":[266],"underappreciated":[267],"routine.":[271],"diseases":[274,283],"diagnose":[285],"both":[286],"clinically":[287,328],"genetically.":[289],"To":[290],"investigate":[291],"prevalence":[293],"disorders":[296],"large":[299],"cohort":[301],"we":[302,323],"established":[303],"set":[305],"pipeline.":[315],"Based":[316],"on":[317],"diagnostic":[319],"yield":[320],"12.5%,":[322],"recommend":[324],"algorithm":[326],"select":[329],"genetically":[331],"evaluate":[332],"patients":[333],"increased":[335],"risk":[336],"disease.":[342]},"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":4}],"updated_date":"2026-11-03T10:50:19.383937","created_date":"2022-09-15T00:00:00"}