{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T09:14:14Z","timestamp":1783761254877,"version":"3.55.0"},"reference-count":50,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T00:00:00Z","timestamp":1782086400000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Hong Kong Health and Medical Research Fund Research","award":["2022"],"award-info":[{"award-number":["2022"]}]},{"name":"Hong Kong Health and Medical Research Fund Research","award":["07210227"],"award-info":[{"award-number":["07210227"]}]},{"name":"Hong Kong Health and Medical Research Fund Research Fellowship","award":["2022"],"award-info":[{"award-number":["2022"]}]},{"name":"Hong Kong College of Physicians-Hong Kong Genome Institute Training","award":["2023"],"award-info":[{"award-number":["2023"]}]},{"name":"Hong Kong Academy of Medicine-Hong Kong Genome Institute","award":["2024"],"award-info":[{"award-number":["2024"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>A significant proportion of patients present with chronic kidney disease of unexplained cause (CKDx) despite standard-of-care diagnostic workup. Data from Australian, European, and US cohorts show that some are due to monogenic etiology. The diagnostic yield and clinical utility of genetic testing in Chinese patients remains unclear.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We prospectively recruited adult CKDx patients following up at Queen Mary Hospital nephrology unit from 1 October 2022 to 1 June 2024. After genetic counseling, patients underwent whole-genome sequencing focused on kidney disease genes (637 genes). Variant classification was performed according to the American College of Medical Genetics guidelines.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 131 CKDx patients, 92% self-identified as Chinese and 21% presented with kidney failure. Mean age at clinical presentation was 35 years. 36% had positive family history of CKD. We identified Pathogenic\/Likely pathogenic variants in 13 patients, giving a diagnostic yield of 10%. Of variants identified, 33% were novel. Variants in type IV collagen genes (COL4A3, COL4A5, COL4A4) were the most frequent, followed by ALG9, CEP290, and IFT140. Alport-spectrum disorders were the leading genetic diagnoses, representing 77% of all genetically positive cases. A significantly higher proportion of patients with positive genetic findings had positive family history of CKD or CKDx, compared with those with negative genetic findings (CKD: 85% versus 31%, P\u00a0&amp;lt;\u00a0.001; CKDx: 77% versus 19%, P\u00a0&amp;lt;\u00a0.001).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Monogenic etiology could be established in 10% of adult CKDx patients in Hong Kong. Alport-spectrum disorders were the leading genetic diagnoses, followed by atypical autosomal dominant polycystic kidney disease and nephronophthisis. Genetic testing in CKDx population is clinically useful since a significant proportion could reach a diagnosis and permit disease-specific management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ndt\/gfag148","type":"journal-article","created":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T11:22:39Z","timestamp":1782127359000},"source":"Crossref","is-referenced-by-count":0,"title":["Whole-genome sequencing for CKD of unexplained cause in Hong Kong"],"prefix":"10.1093","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9267-7956","authenticated-orcid":false,"given":"Becky Mingyao","family":"Ma","sequence":"first","affiliation":[{"name":"Division of Nephrology, Department of Medicine, Queen Mary Hospital, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirley Pik Ying","family":"Hue","sequence":"additional","affiliation":[{"name":"Hong Kong Genome Institute, Hong Kong Special Administrative Region ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Ma","sequence":"additional","affiliation":[{"name":"Hong Kong Genome Institute, Hong Kong Special Administrative Region ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie Sui Lam","family":"Kwok","sequence":"additional","affiliation":[{"name":"Hong Kong Genome Institute, Hong Kong Special Administrative Region ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy Hin Yan","family":"Tong","sequence":"additional","affiliation":[{"name":"Hong Kong Genome Institute, Hong Kong Special Administrative Region ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dingge","family":"Ying","sequence":"additional","affiliation":[{"name":"Hong Kong Genome Institute, Hong Kong Special Administrative Region ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desiree Man Sik","family":"Tse","sequence":"additional","affiliation":[{"name":"Hong Kong Genome Institute, Hong Kong Special Administrative Region ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie Tsz Wai","family":"Chu","sequence":"additional","affiliation":[{"name":"Hong Kong Genome Institute, Hong Kong Special Administrative Region ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desmond Yat Hin","family":"Yap","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Medicine, Queen Mary Hospital, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-8346-3662","authenticated-orcid":false,"given":"Nora","family":"Franceschini","sequence":"additional","affiliation":[{"name":"Departments of Epidemiology and Genetics, Gillings School of Global Public Health and School of Medicine, University of North Carolina , Chapel Hill, NC ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian Hon Yin","family":"Chung","sequence":"additional","affiliation":[{"name":"Hong Kong Genome Institute, Hong Kong Special Administrative Region ,","place":["China"]},{"name":"Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Su Vui","family":"Lo","sequence":"additional","affiliation":[{"name":"Hong Kong Genome Institute, Hong Kong Special Administrative Region ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3495-4051","authenticated-orcid":false,"given":"Tak Mao","family":"Chan","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Medicine, Queen Mary Hospital, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,6,22]]},"reference":[{"key":"2026071105111521800_bib1","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1038\/s41581-024-00820-6","article-title":"Chronic kidney disease and the global public health agenda: an international consensus","volume":"20","author":"Francis","year":"2024","journal-title":"Nat Rev Nephrol"},{"key":"2026071105111521800_bib2","doi-asserted-by":"publisher","first-page":"2390","DOI":"10.1093\/ndt\/gfaf092","article-title":"Chronic kidney disease of unexplained cause (CKDx): a Consensus Statement by the Genes & Kidney Working Group of the ERA","volume":"40","author":"Halbritter","year":"2025","journal-title":"Nephrol Dial Transplant"},{"key":"2026071105111521800_bib3","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1016\/j.kint.2020.03.031","article-title":"Genetic testing for kidney disease of unknown etiology","volume":"98","author":"Hays","year":"2020","journal-title":"Kidney Int"},{"key":"2026071105111521800_bib4","doi-asserted-by":"publisher","first-page":"101","DOI":"10.2215\/CJN.0000000000000564","article-title":"Utility of genetic testing in adults with CKD: a systematic review and meta-analysis","volume":"20","author":"Schott","year":"1 2025","journal-title":"Clin J Am Soc Nephrol"},{"key":"2026071105111521800_bib5","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1016\/S0140-6736(23)02843-X","article-title":"Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort","volume":"403","author":"Wong","year":"2024","journal-title":"Lancet"},{"key":"2026071105111521800_bib6","doi-asserted-by":"publisher","first-page":"151659","DOI":"10.1016\/j.semnephrol.2025.151659","article-title":"Should genetic testing be indicated and implemented for chronic kidney disease of unknown cause?","volume":"45","author":"Jefferis","year":"2025","journal-title":"Semin Nephrol"},{"key":"2026071105111521800_bib7","doi-asserted-by":"publisher","first-page":"887","DOI":"10.2215\/CJN.0000000000000464","article-title":"Genomic testing in patients with kidney failure of an unknown cause: a national Australian study","volume":"19","author":"Mallawaarachchi","year":"2024","journal-title":"Clin J Am Soc Nephrol"},{"key":"2026071105111521800_bib8","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1053\/j.ajkd.2024.04.021","article-title":"Genetic characterization of kidney failure of unknown etiology in Spain: findings from the GENSEN Study","volume":"84","author":"Blasco","year":"2024","journal-title":"Am J Kidney Dis"},{"key":"2026071105111521800_bib9","doi-asserted-by":"publisher","first-page":"994","DOI":"10.1016\/j.ekir.2024.01.027","article-title":"Genetic diagnosis of adult hemodialysis patients with unknown etiology","volume":"9","author":"Fujimaru","year":"2024","journal-title":"Kidney Int Rep"},{"key":"2026071105111521800_bib10","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1093\/ndt\/gfae270","article-title":"Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin","volume":"40","author":"de\u00a0Haan","year":"2025","journal-title":"Nephrol Dial Transplant"},{"key":"2026071105111521800_bib11","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1056\/NEJMoa1806891","article-title":"Diagnostic utility of exome sequencing for kidney disease","volume":"380","author":"Groopman","year":"10 2019","journal-title":"N Engl J Med"},{"key":"2026071105111521800_bib12","first-page":"101473","article-title":"The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong Genome Project","volume":"55","author":"Lam","year":"2025","journal-title":"Lancet Reg Health West Pac"},{"key":"2026071105111521800_bib13","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"2026071105111521800_bib14","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res"},{"key":"2026071105111521800_bib15","doi-asserted-by":"publisher","first-page":"e1004873","DOI":"10.1371\/journal.pcbi.1004873","article-title":"Genome-wide copy number detection and visualization from targeted DNA sequencing","volume":"12","author":"Talevich","year":"2016","journal-title":"PLoS Comput Biol"},{"key":"2026071105111521800_bib16","doi-asserted-by":"publisher","first-page":"1220","DOI":"10.1093\/bioinformatics\/btv710","article-title":"Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications","volume":"32","author":"Chen","year":"2016","journal-title":"Bioinformatics"},{"key":"2026071105111521800_bib17","doi-asserted-by":"publisher","first-page":"1497","DOI":"10.1093\/bioinformatics\/btz261","article-title":"SurVIndel: improving CNV calling from high-throughput sequencing data through statistical testing","volume":"37","author":"Rajaby","year":"12 2021","journal-title":"Bioinformatics"},{"key":"2026071105111521800_bib18","doi-asserted-by":"publisher","first-page":"3243","DOI":"10.1038\/s41467-023-38870-2","article-title":"INSurVeyor: improving insertion calling from short read sequencing data","volume":"14","author":"Rajaby","year":"5 2023","journal-title":"Nat Commun"},{"key":"2026071105111521800_bib19","doi-asserted-by":"publisher","first-page":"4754","DOI":"10.1093\/bioinformatics\/btz431","article-title":"ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions","volume":"35","author":"Dolzhenko","year":"2019","journal-title":"Bioinformatics"},{"key":"2026071105111521800_bib20","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1101\/gr.160325.113","article-title":"Improved exome prioritization of disease genes through cross-species phenotype comparison","volume":"24","author":"Robinson","year":"2014","journal-title":"Genome Res"},{"key":"2026071105111521800_bib21","doi-asserted-by":"publisher","first-page":"1560","DOI":"10.1038\/s41588-019-0528-2","article-title":"PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels","volume":"51","author":"Martin","year":"2019","journal-title":"Nat Genet"},{"key":"2026071105111521800_bib22","doi-asserted-by":"publisher","first-page":"100820","DOI":"10.1016\/j.gimo.2023.100820","article-title":"Evolution of virtual gene panels over time and implications for genomic data re-analysis","volume":"1","author":"Robertson","year":"2023","journal-title":"Genet Med Open"},{"key":"2026071105111521800_bib23","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1146\/annurev-biodatasci-102423-112456","article-title":"Generating clinical-grade gene-disease validity classifications through the clingen data platforms","volume":"7","author":"Wright","year":"2024","journal-title":"Annu Rev Biomed Data Sci"},{"key":"2026071105111521800_bib24","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2026071105111521800_bib25","author":"Sequence Variant Interpretation Working Group (SVI) Updates"},{"key":"2026071105111521800_bib26","doi-asserted-by":"crossref","first-page":"2048","DOI":"10.1016\/S0140-6736(08)60875-2","article-title":"Empowerment of patients: lessons from the rare diseases community","volume":"371","author":"Aym\u00e9","year":"2008","journal-title":"Lancet"},{"key":"2026071105111521800_bib27","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1053\/j.ajkd.2020.08.012","article-title":"Ciliopathies and the kidney: a review","volume":"77","author":"McConnachie","year":"2021","journal-title":"Am J Kidney Dis"},{"key":"2026071105111521800_bib28","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1016\/j.ajo.2023.03.025","article-title":"Pathogenic variants in CEP290 or IQCB1 cause earlier-onset retinopathy in Senior-Loken syndrome compared to those in INVS, NPHP3, or NPHP4","volume":"252","author":"Wang","year":"2023","journal-title":"Am J Ophthalmol"},{"key":"2026071105111521800_bib29","doi-asserted-by":"crossref","first-page":"122","DOI":"10.6002\/ect.PediatricSymp2022.O39","article-title":"Long-term outcomes of kidney transplant recipients with juvenile nephronophthisis","volume":"20","author":"Avc\u0131","year":"2022","journal-title":"Exp Clin Transplant"},{"key":"2026071105111521800_bib30","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1091\/mbc.e16-11-0813","article-title":"Intraflagellar transport-A complex mediates ciliary entry and retrograde trafficking of ciliary G protein-coupled receptors","volume":"28","author":"Hirano","year":"2017","journal-title":"MBoC"},{"key":"2026071105111521800_bib31","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1016\/j.ajhg.2021.11.016","article-title":"Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype","volume":"109","author":"Senum","year":"2022","journal-title":"Am Hum Genet"},{"key":"2026071105111521800_bib32","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1053\/j.ajkd.2024.10.009","article-title":"Clincal spectrum and prognosis of atypical autosomal dominant polycystic kidney disease caused by monoallelic pathogenic variants of IFT140","volume":"85","author":"Zagorec","year":"2025","journal-title":"Am J Kidney Dis"},{"key":"2026071105111521800_bib33","doi-asserted-by":"publisher","first-page":"825","DOI":"10.7326\/0003-4819-158-11-201306040-00007","article-title":"Evaluation and Management of chronic kidney disease: synopsis of the Kidney Disease: Improving Global Outcomes 2012 Clinical Practice Guideline","volume":"158","author":"Stevens","year":"2013","journal-title":"Ann Intern Med"},{"key":"2026071105111521800_bib34","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1053\/j.ajkd.2012.02.330","article-title":"Bleeding complications of native kidney biopsy: a systematic review and meta-analysis","volume":"60","author":"Corapi","year":"2012","journal-title":"Am J Kidney Dis"},{"key":"2026071105111521800_bib35","first-page":"478","article-title":"Management of chronic kidney disease: a Hong Kong consensus recommendation","volume":"30","author":"Tang","year":"2024","journal-title":"Hong Kong Med J"},{"key":"2026071105111521800_bib36","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1016\/j.kint.2024.07.010","article-title":"KDIGO 2025 Clinical Practice Guideline for the evaluation, management, and treatment of autosomal dominant polycystic kidney disease (ADPKD): executive summary","volume":"107","author":"Torres","year":"2025","journal-title":"Kidney Int"},{"key":"2026071105111521800_bib37","doi-asserted-by":"publisher","first-page":"e1508","DOI":"10.1002\/mgg3.1508","article-title":"Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review","volume":"8","author":"Tan","year":"2020","journal-title":"Molec Gen Gen Med"},{"key":"2026071105111521800_bib38","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1038\/ki.2011.407","article-title":"Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy","volume":"81","author":"Gross","year":"2012","journal-title":"Kidney Int"},{"key":"2026071105111521800_bib39","doi-asserted-by":"publisher","first-page":"1275","DOI":"10.1016\/j.kint.2019.12.015","article-title":"A multicenter, randomized, placebo-controlled, double-blind Phase 3 Trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport\u2019s syndrome","volume":"97","author":"Gross","year":"2020","journal-title":"Kidney Int"},{"key":"2026071105111521800_bib40","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1038\/ki.2011.452","article-title":"Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations","volume":"81","author":"Temme","year":"2012","journal-title":"Kidney Int"},{"key":"2026071105111521800_bib41","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1007\/s00467-016-3452-z","article-title":"Prospective study on the potential of RAAS blockade to halt renal disease in Alport syndrome patients with heterozygous mutations","volume":"32","author":"Stock","year":"2017","journal-title":"Pediatr Nephrol"},{"key":"2026071105111521800_bib42","doi-asserted-by":"publisher","first-page":"1091","DOI":"10.1093\/ndt\/gfae265","article-title":"Diagnosis, management and treatment of the Alport syndrome\u20132024 guideline on behalf of ERKNet, ERA and ESPN","volume":"40","author":"Torra","year":"2025","journal-title":"Nephrol Dial Transplant"},{"key":"2026071105111521800_bib43","doi-asserted-by":"publisher","first-page":"2273","DOI":"10.1681\/ASN.2020071065","article-title":"Prevalence estimates of predicted pathogenic COL4A3-COL4A5 variants in a population sequencing database and their implications for Alport syndrome","volume":"32","author":"Gibson","year":"2021","journal-title":"J Am Soc Nephrol"},{"key":"2026071105111521800_bib44","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1136\/jcp.43.6.457","article-title":"Incidence of thin membrane nephropathy: morphometric investigation of a population sample","volume":"43","author":"Dische","year":"1990","journal-title":"J Clin Pathol"},{"key":"2026071105111521800_bib45","article-title":"New insights into renal failure in a cohort of 317 patients with autosomal dominant forms of Alport Syndrome: report of two novel heterozygous mutations in COL4A3","volume":"11:4883","author":"Garc\u00eda-Aznar","year":"2022","journal-title":"J Clin Med"},{"key":"2026071105111521800_bib46","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1093\/ckj\/sfz176","article-title":"Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review","volume":"13","author":"Matthaiou","year":"2020","journal-title":"Clin Kidney J"},{"key":"2026071105111521800_bib47","doi-asserted-by":"publisher","first-page":"2088","DOI":"10.1016\/j.ekir.2023.07.010","article-title":"The Phenotypic Spectrum of COL4A3 Heterozygotes","volume":"8","author":"Solanki","year":"2023","journal-title":"Kidney Int Rep"},{"key":"2026071105111521800_bib48","doi-asserted-by":"publisher","first-page":"1933","DOI":"10.1016\/j.ekir.2022.06.001","article-title":"Heterozygous pathogenic COL4A3 and COL4A4 variants (autosomal dominant Alport Syndrome) are common, and not typically associated with end-stage kidney failure, hearing loss, or ocular abnormalities","volume":"7","author":"Savige","year":"2022","journal-title":"Kidney Int Rep"},{"key":"2026071105111521800_bib49","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1038\/s41525-022-00309-w","article-title":"PKD2 Founder mutation is the most common mutation of polycystic kidney disease in Taiwan","volume":"7","author":"Yu","year":"2022","journal-title":"npj Genom Med"},{"key":"2026071105111521800_bib50","doi-asserted-by":"publisher","first-page":"3984","DOI":"10.1016\/j.ekir.2025.09.001","article-title":"Diagnostic yield of whole-genome sequencing in patients with kidney failure of undetermined etiology at age 50 years or younger","volume":"10","author":"Granh\u00f8j","year":"4","journal-title":"Kidney Int Rep"}],"container-title":["Nephrology Dialysis Transplantation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ndt\/advance-article-pdf\/doi\/10.1093\/ndt\/gfag148\/68576250\/gfag148.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ndt\/advance-article-pdf\/doi\/10.1093\/ndt\/gfag148\/68576250\/gfag148.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T09:11:24Z","timestamp":1783761084000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ndt\/advance-article\/doi\/10.1093\/ndt\/gfag148\/8713292"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,22]]},"references-count":50,"URL":"https:\/\/doi.org\/10.1093\/ndt\/gfag148","relation":{},"ISSN":["0931-0509","1460-2385"],"issn-type":[{"value":"0931-0509","type":"print"},{"value":"1460-2385","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,22]]},"article-number":"gfag148"}}