{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T08:28:36Z","timestamp":1793953716769,"version":"4.8.0"},"reference-count":66,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T00:00:00Z","timestamp":1777420800000},"content-version":"vor","delay-in-days":118,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008093","name":"Schulich School of Medicine and Dentistry","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008093","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010564","name":"Academic Medical Organization of Southwestern Ontario","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010564","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["akdh.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Advances in Kidney Disease and Health"],"published-print":{"date-parts":[[2026,1]]},"DOI":"10.1053\/j.akdh.2026.04.003","type":"journal-article","created":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T20:26:46Z","timestamp":1779481606000},"page":"37-47","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Autosomal Dominant Tubulointerstitial Kidney Disease: Approach to Diagnosis"],"prefix":"10.1053","volume":"33","author":[{"given":"Dervla M.","family":"Connaughton","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Arnaldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kendrah O.","family":"Kidd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony J.","family":"Bleyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"11","key":"10.1053\/j.akdh.2026.04.003_bib1","doi-asserted-by":"crossref","first-page":"2348","DOI":"10.1681\/ASN.V12112348","article-title":"Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?","volume":"12","author":"Dahan","year":"2001","journal-title":"J Am Soc Nephrol"},{"issue":"1","key":"10.1053\/j.akdh.2026.04.003_bib2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12882-020-02169-x","article-title":"Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-UMOD: is kidney biopsy truly nonspecific?","volume":"22","author":"Onoe","year":"2021","journal-title":"BMC Nephrol"},{"issue":"3","key":"10.1053\/j.akdh.2026.04.003_bib3","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/ajmg.c.32008","article-title":"Autosomal dominant tubulointerstitial kidney disease: a review","volume":"190","author":"\u017divn\u00e1","year":"2022","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"4","key":"10.1053\/j.akdh.2026.04.003_bib4","doi-asserted-by":"crossref","first-page":"408","DOI":"10.3390\/genes16040408","article-title":"Genetic testing in adults over 50 years with chronic kidney disease: diagnostic yield and clinical implications in a specialized kidney genetics clinic","volume":"16","author":"Schott","year":"2025","journal-title":"Genes"},{"issue":"1","key":"10.1053\/j.akdh.2026.04.003_bib5","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1038\/s41436-019-0617-8","article-title":"Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases","volume":"22","author":"Bleyer","year":"2020","journal-title":"Genet Med"},{"key":"10.1053\/j.akdh.2026.04.003_bib6","series-title":"StatPearls","article-title":"Autosomal dominant tubulointerstitial kidney disease","author":"Shamam","year":"2025"},{"issue":"11","key":"10.1053\/j.akdh.2026.04.003_bib7","doi-asserted-by":"crossref","first-page":"2332","DOI":"10.1016\/j.ekir.2022.08.012","article-title":"Autosomal dominant tubulointerstitial kidney disease: an emerging cause of genetic CKD","volume":"7","author":"Econimo","year":"2022","journal-title":"Kidney Int Rep"},{"issue":"2","key":"10.1053\/j.akdh.2026.04.003_bib8","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/j.kint.2022.04.031","article-title":"Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases","volume":"102","author":"Wopperer","year":"2022","journal-title":"Kidney Int"},{"issue":"4","key":"10.1053\/j.akdh.2026.04.003_bib9","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/j.kint.2023.11.021","article-title":"Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis","volume":"105","author":"Kmochov\u00e1","year":"2024","journal-title":"Kidney Int"},{"issue":"2","key":"10.1053\/j.akdh.2026.04.003_bib10","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1056\/NEJMoa1806891","article-title":"Diagnostic utility of exome sequencing for kidney disease","volume":"380","author":"Groopman","year":"2019","journal-title":"N Engl J Med"},{"issue":"1","key":"10.1053\/j.akdh.2026.04.003_bib11","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1080\/0886022X.2019.1655452","article-title":"Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland","volume":"41","author":"Cormican","year":"2019","journal-title":"Ren Fail"},{"issue":"2","key":"10.1053\/j.akdh.2026.04.003_bib12","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.ekir.2024.11.004","article-title":"Implementation of a kidney genetic service into the diagnostic pathway for patients with chronic kidney disease in Canada","volume":"10","author":"Schott","year":"2025","journal-title":"Kidney Int Rep"},{"issue":"11","key":"10.1053\/j.akdh.2026.04.003_bib15","doi-asserted-by":"crossref","first-page":"2446","DOI":"10.1681\/ASN.V10112446","article-title":"Anti-glomerular basement membrane disease","volume":"10","author":"Kluth","year":"1999","journal-title":"J Am Soc Nephrol"},{"issue":"1","key":"10.1053\/j.akdh.2026.04.003_bib16","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1038\/s41572-019-0109-9","article-title":"Autosomal dominant tubulointerstitial kidney disease","volume":"5","author":"Devuyst","year":"2019","journal-title":"Nat Rev Dis Primer"},{"issue":"4","key":"10.1053\/j.akdh.2026.04.003_bib17","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1111\/j.1523-1755.2002.kid581.x","article-title":"Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families","volume":"62","author":"Stavrou","year":"2002","journal-title":"Kidney Int"},{"issue":"1","key":"10.1053\/j.akdh.2026.04.003_bib18","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1046\/j.1523-1755.2003.00081.x","article-title":"Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene","volume":"64","author":"Bleyer","year":"2003","journal-title":"Kidney Int"},{"issue":"6","key":"10.1053\/j.akdh.2026.04.003_bib19","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1016\/j.kint.2020.06.041","article-title":"An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes","volume":"98","author":"\u017divn\u00e1","year":"2020","journal-title":"Kidney Int"},{"issue":"2","key":"10.1053\/j.akdh.2026.04.003_bib20","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/nrneph.2014.232","article-title":"HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum","volume":"11","author":"Clissold","year":"2015","journal-title":"Nat Rev Nephrol"},{"issue":"2","key":"10.1053\/j.akdh.2026.04.003_bib21","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1002\/(SICI)1096-8628(19980501)77:2<149::AID-AJMG8>3.0.CO;2-N","article-title":"Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1","volume":"77","author":"Stavrou","year":"1998","journal-title":"Am J Med Genet"},{"issue":"3","key":"10.1053\/j.akdh.2026.04.003_bib22","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/j.xkme.2020.01.010","article-title":"SGLT2 inhibitors for treatment of refractory hypomagnesemia: a case report of 3 patients","volume":"2","author":"Ray","year":"2020","journal-title":"Kidney Med"},{"issue":"9","key":"10.1053\/j.akdh.2026.04.003_bib23","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1038\/ng1623","article-title":"Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis","volume":"37","author":"Gribouval","year":"2005","journal-title":"Nat Genet"},{"issue":"5","key":"10.1053\/j.akdh.2026.04.003_bib24","doi-asserted-by":"crossref","first-page":"411","DOI":"10.5414\/CNP74411","article-title":"Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone","volume":"74","author":"Bleyer","year":"2010","journal-title":"Clin Nephrol"},{"issue":"2","key":"10.1053\/j.akdh.2026.04.003_bib25","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1093\/ndt\/gfab268","article-title":"Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease","volume":"38","author":"Mabillard","year":"2023","journal-title":"Nephrol Dial Transplant"},{"issue":"9","key":"10.1053\/j.akdh.2026.04.003_bib26","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1016\/j.ekir.2020.06.029","article-title":"Genetic and clinical predictors of age of ESKD in individuals with autosomal dominant tubulointerstitial kidney disease due to UMOD mutations","volume":"5","author":"Kidd","year":"2020","journal-title":"Kidney Int Rep"},{"issue":"1","key":"10.1053\/j.akdh.2026.04.003_bib27","doi-asserted-by":"crossref","first-page":"101","DOI":"10.2215\/CJN.0000000000000564","article-title":"Utility of genetic testing in adults with chronic kidney disease: a systematic review and meta-analysis","volume":"20","author":"Schott","year":"2024","journal-title":"Clin J Am Soc Nephrol"},{"issue":"1","key":"10.1053\/j.akdh.2026.04.003_bib28","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1159\/000504869","article-title":"Utility of genomic testing after renal biopsy","volume":"51","author":"Murray","year":"2020","journal-title":"Am J Nephrol"},{"issue":"4","key":"10.1053\/j.akdh.2026.04.003_bib29","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1159\/000522226","article-title":"Genetic etiologies for chronic kidney disease revealed through next-generation renal gene panel","volume":"53","author":"Bleyer","year":"2022","journal-title":"Am J Nephrol"},{"issue":"12","key":"10.1053\/j.akdh.2026.04.003_bib30","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1681\/ASN.0000000000000249","article-title":"The clinical utility of genetic testing in the diagnosis and management of adults with chronic kidney disease","volume":"34","author":"Dahl","year":"2023","journal-title":"J Am Soc Nephrol"},{"key":"10.1053\/j.akdh.2026.04.003_bib31","article-title":"Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario","volume":"3","author":"Du","year":"2025","journal-title":"Genet Med Open"},{"issue":"5","key":"10.1053\/j.akdh.2026.04.003_bib32","doi-asserted-by":"crossref","DOI":"10.1016\/j.semnephrol.2025.151649","article-title":"Models of care for the implementation of genetic testing in nephrology","volume":"45","author":"Connaughton","year":"2025","journal-title":"Semin Nephrol"},{"issue":"1","key":"10.1053\/j.akdh.2026.04.003_bib33","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1146\/annurev-genom-090711-163800","article-title":"Genetic discrimination: international perspectives","volume":"13","author":"Otlowski","year":"2012","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"10.1053\/j.akdh.2026.04.003_bib34","author":"Branch"},{"issue":"4","key":"10.1053\/j.akdh.2026.04.003_bib35","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1016\/j.kint.2018.10.031","article-title":"Monogenic causes of chronic kidney disease in adults","volume":"95","author":"Connaughton","year":"2019","journal-title":"Kidney Int"},{"issue":"2","key":"10.1053\/j.akdh.2026.04.003_bib36","doi-asserted-by":"crossref","first-page":"100","DOI":"10.7326\/M17-1319","article-title":"Whole-exome sequencing in adults with chronic kidney disease: a pilot study","volume":"168","author":"Lata","year":"2018","journal-title":"Ann Intern Med"},{"issue":"5","key":"10.1053\/j.akdh.2026.04.003_bib37","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1053\/j.ajkd.2024.05.011","article-title":"Clinical genetic testing in nephrology: core curriculum 2024","volume":"84","author":"Aron","year":"2024","journal-title":"Am J Kidney Dis"},{"issue":"6","key":"10.1053\/j.akdh.2026.04.003_bib38","article-title":"Diagnostic utility of genetic testing in patients undergoing renal biopsy","volume":"6","author":"Benson","year":"2020","journal-title":"Cold Spring Harb Mol Case Stud"},{"issue":"15","key":"10.1053\/j.akdh.2026.04.003_bib39","doi-asserted-by":"crossref","first-page":"2998","DOI":"10.1093\/hmg\/ddq205","article-title":"A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure","volume":"19","author":"Bernascone","year":"2010","journal-title":"Hum Mol Genet"},{"issue":"5","key":"10.1053\/j.akdh.2026.04.003_bib40","doi-asserted-by":"crossref","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"},{"issue":"1","key":"10.1053\/j.akdh.2026.04.003_bib41","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s13073-019-0688-9","article-title":"Is \u2018likely pathogenic\u2019 really 90% likely? Reclassification data in ClinVar","volume":"11","author":"Harrison","year":"2019","journal-title":"Genome Med"},{"issue":"1","key":"10.1053\/j.akdh.2026.04.003_bib42","article-title":"Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level","volume":"27","author":"Bennett","year":"2025","journal-title":"Genet Med"},{"key":"10.1053\/j.akdh.2026.04.003_bib43","doi-asserted-by":"crossref","DOI":"10.1016\/j.xkme.2026.101265","article-title":"A partial UMOD deletion results in altered UMOD synthesis and ADTKD","volume":"8","author":"Fagnoul","year":"2026","journal-title":"Kidney Med"},{"issue":"4","key":"10.1053\/j.akdh.2026.04.003_bib45","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1016\/j.jmoldx.2016.03.003","article-title":"Development and validation of a mass spectrometry\u2013based assay for the molecular diagnosis of Mucin-1 kidney disease","volume":"18","author":"Blumenstiel","year":"2016","journal-title":"J Mol Diagn"},{"issue":"8","key":"10.1053\/j.akdh.2026.04.003_bib46","article-title":"An intermediate-effect size variant in UMOD confers risk for chronic kidney disease","volume":"119","author":"Olinger","year":"2022","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"4","key":"10.1053\/j.akdh.2026.04.003_bib47","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0175970","article-title":"Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response","volume":"12","author":"Schaeffer","year":"2017","journal-title":"PLoS One"},{"issue":"11","key":"10.1053\/j.akdh.2026.04.003_bib48","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1111\/j.1600-0854.2006.00481.x","article-title":"Defective intracellular trafficking of uromodulin mutant isoforms","volume":"7","author":"Bernascone","year":"2006","journal-title":"Traffic"},{"issue":"17","key":"10.1053\/j.akdh.2026.04.003_bib49","article-title":"Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors","volume":"134","author":"Bazua-Valenti","year":"2024","journal-title":"J Clin Invest"},{"issue":"3","key":"10.1053\/j.akdh.2026.04.003_bib50","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1016\/j.kint.2020.04.038","article-title":"Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1","volume":"98","author":"Olinger","year":"2020","journal-title":"Kidney Int"},{"issue":"9","key":"10.1053\/j.akdh.2026.04.003_bib51","doi-asserted-by":"crossref","first-page":"2418","DOI":"10.1681\/ASN.2018020180","article-title":"Noninvasive immunohistochemical diagnosis and novel MUC1 mutations causing autosomal dominant tubulointerstitial kidney disease","volume":"29","author":"\u017divn\u00e1","year":"2018","journal-title":"J Am Soc Nephrol"},{"issue":"3","key":"10.1053\/j.akdh.2026.04.003_bib52","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.cell.2019.07.002","article-title":"Small molecule targets TMED9 and promotes lysosomal degradation to reverse proteinopathy","volume":"178","author":"Dvela-Levitt","year":"2019","journal-title":"Cell"},{"issue":"3","key":"10.1053\/j.akdh.2026.04.003_bib53","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/ng.2543","article-title":"Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing","volume":"45","author":"Kirby","year":"2013","journal-title":"Nat Genet"},{"issue":"2","key":"10.1053\/j.akdh.2026.04.003_bib54","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/ki.2011.316","article-title":"Medullary amyloidosis associated with apolipoprotein A-IV deposition","volume":"81","author":"Sethi","year":"2012","journal-title":"Kidney Int"},{"issue":"1","key":"10.1053\/j.akdh.2026.04.003_bib55","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-019-48014-6","article-title":"Autosomal dominant tubulointerstitial kidney disease with adult onset due to a novel renin mutation mapping in the mature protein","volume":"9","author":"Schaeffer","year":"2019","journal-title":"Sci Rep"},{"issue":"7","key":"10.1053\/j.akdh.2026.04.003_bib56","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1038\/ki.2011.225","article-title":"Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood","volume":"80","author":"Faguer","year":"2011","journal-title":"Kidney Int"},{"issue":"5","key":"10.1053\/j.akdh.2026.04.003_bib57","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1086\/522591","article-title":"Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy","volume":"81","author":"Mefford","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1053\/j.akdh.2026.04.003_bib58","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1093\/ndt\/gfu370","article-title":"Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract","volume":"30","author":"Raaijmakers","year":"2015","journal-title":"Nephrol Dial Transplant"},{"issue":"3","key":"10.1053\/j.akdh.2026.04.003_bib60","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1038\/ki.2014.72","article-title":"Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin","volume":"86","author":"Ekici","year":"2014","journal-title":"Kidney Int"},{"issue":"12","key":"10.1053\/j.akdh.2026.04.003_bib61","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1038\/s41431-022-01177-9","article-title":"Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study","volume":"30","author":"Popp","year":"2022","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"10.1053\/j.akdh.2026.04.003_bib62","doi-asserted-by":"crossref","DOI":"10.1093\/ckj\/sfae355","article-title":"MUC1-associated autosomal dominant tubulointerstitial kidney disease: prevalence in kidney failure of undetermined aetiology and clinical insights from Danish families","volume":"18","author":"Granh\u00f8j","year":"2025","journal-title":"Clin Kidney J"},{"issue":"5","key":"10.1053\/j.akdh.2026.04.003_bib63","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1016\/j.ekir.2024.01.058","article-title":"Description of a new simple and cost-effective molecular testing that could simplify MUC1 variant detection","volume":"9","author":"Fages","year":"2024","journal-title":"Kidney Int Rep"},{"issue":"10","key":"10.1053\/j.akdh.2026.04.003_bib64","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/s41576-020-0236-x","article-title":"Long-read human genome sequencing and its applications","volume":"21","author":"Logsdon","year":"2020","journal-title":"Nat Rev Genet"},{"issue":"1","key":"10.1053\/j.akdh.2026.04.003_bib65","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s13059-020-1935-5","article-title":"Opportunities and challenges in long-read sequencing data analysis","volume":"21","author":"Amarasinghe","year":"2020","journal-title":"Genome Biol"},{"issue":"1","key":"10.1053\/j.akdh.2026.04.003_bib66","doi-asserted-by":"crossref","first-page":"4170","DOI":"10.1038\/s41598-018-22428-0","article-title":"Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations","volume":"8","author":"Wenzel","year":"2018","journal-title":"Sci Rep"},{"issue":"8","key":"10.1053\/j.akdh.2026.04.003_bib67","article-title":"VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease","volume":"26","author":"Saei","year":"2023","journal-title":"iScience"},{"issue":"9","key":"10.1053\/j.akdh.2026.04.003_bib68","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1007\/s10157-025-02675-y","article-title":"Clinical use of the VNtyper-Kestrel pipeline for MUC1 variant detection in autosomal-dominant tubulointerstitial kidney disease","volume":"29","author":"Nagano","year":"2025","journal-title":"Clin Exp Nephrol"},{"issue":"5","key":"10.1053\/j.akdh.2026.04.003_bib69","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1053\/j.ajkd.2024.11.010","article-title":"Phenotypic heterogeneity of ADTKD-MUC1 diagnosed using VNtyper, a novel genetic technique","volume":"85","author":"Kachmar","year":"2025","journal-title":"Am J Kidney Dis"},{"issue":"2","key":"10.1053\/j.akdh.2026.04.003_bib70","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1681\/ASN.0000000503","article-title":"Systematic screening of ADTKD-MUC1 27dupC pathogenic variant through exome sequencing","volume":"36","author":"Bensouna","year":"2024","journal-title":"J Am Soc Nephrol"}],"container-title":["Advances in Kidney Disease and Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2949813926000674?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2949813926000674?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T08:07:56Z","timestamp":1793952476000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2949813926000674"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":66,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["S2949813926000674"],"URL":"https:\/\/doi.org\/10.1053\/j.akdh.2026.04.003","relation":{},"ISSN":["2949-8139"],"issn-type":[{"value":"2949-8139","type":"print"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Autosomal Dominant Tubulointerstitial Kidney Disease: Approach to Diagnosis","name":"articletitle","label":"Article Title"},{"value":"Advances in Kidney Disease and Health","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/j.akdh.2026.04.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Inc. on behalf of the National Kidney Foundation, Inc.","name":"copyright","label":"Copyright"}]}}