{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T20:17:56Z","timestamp":1789503476589,"version":"build-2803163510"},"reference-count":116,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T00:00:00Z","timestamp":1691539200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005624","name":"Medizinischen Hochschule Hannover","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005624","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["KO 5614\/2-1"],"award-info":[{"award-number":["KO 5614\/2-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["MA 9606\/1-1"],"award-info":[{"award-number":["MA 9606\/1-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003042","name":"Else Kr\u00f6ner-Fresenius-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003042","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["kireports.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Kidney International Reports"],"published-print":{"date-parts":[[2023,11]]},"DOI":"10.1016\/j.ekir.2023.08.008","type":"journal-article","created":{"date-parts":[[2023,8,14]],"date-time":"2023-08-14T21:12:56Z","timestamp":1692047576000},"page":"2439-2457","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life"],"prefix":"10.1016","volume":"8","author":[{"given":"Lina","family":"Werfel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helge","family":"Martens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imke","family":"Hennies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann Christin","family":"Gjerstad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerstin","family":"Fr\u00f6de","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gheona","family":"Altarescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sushmita","family":"Banerjee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Valenzuela Palafoll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Geffers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Kirschstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Christians","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Bjerre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter","family":"Haffner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruthild G.","family":"Weber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ekir.2023.08.008_bib1","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1038\/nrg2205","article-title":"Renal abnormalities and their developmental origin","volume":"8","author":"Schedl","year":"2007","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib2","first-page":"448","article-title":"Kongenitale Anomalien der Nieren und ableitenden Harnwege (CAKUT)","volume":"30","author":"Kosfeld","year":"2018","journal-title":"Med Genet"},{"issue":"suppl 4","key":"10.1016\/j.ekir.2023.08.008_bib4","doi-asserted-by":"crossref","first-page":"iv1","DOI":"10.1093\/ndt\/gfu030","article-title":"Renal replacement therapy for rare diseases affecting the kidney: an analysis of the ERA\u2013EDTA Registry","volume":"29","author":"W\u00fchl","year":"2014","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.ekir.2023.08.008_bib5","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1053\/j.ajkd.2016.09.024","article-title":"Infants requiring maintenance dialysis: outcomes of hemodialysis and peritoneal dialysis","volume":"69","author":"Vidal","year":"2017","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.ekir.2023.08.008_bib6","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1093\/ndt\/gfx190","article-title":"Long-term consequences of renal insufficiency in children: lessons learned from the Dutch LERIC study","volume":"33","author":"Groothoff","year":"2018","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.ekir.2023.08.008_bib7","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/s00467-018-4056-6","article-title":"Outcomes of infants receiving chronic peritoneal dialysis: an analysis of the USRDS registry","volume":"34","author":"Sanderson","year":"2019","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.ekir.2023.08.008_bib8","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.ejmg.2014.04.014","article-title":"Associated nonurinary congenital anomalies among infants with congenital anomalies of kidney and urinary tract (CAKUT)","volume":"57","author":"Stoll","year":"2014","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib9","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1002\/ajmg.c.32006","article-title":"Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C","volume":"190","author":"Connaughton","year":"2022","journal-title":"Am J Med Genet C"},{"key":"10.1016\/j.ekir.2023.08.008_bib10","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s00467-021-04995-z","article-title":"A\u00a0practical approach to the genomics of kidney disorders","volume":"37","author":"Hay","year":"2022","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.ekir.2023.08.008_bib11","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1007\/s00467-021-05420-1","article-title":"The genetic basis of congenital anomalies of the kidney and urinary tract","volume":"37","author":"Kagan","year":"2022","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.ekir.2023.08.008_bib12","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/ki.2012.169","article-title":"Improved equations estimating GFR in children with chronic kidney disease using an immunonephelometric determination of cystatin C","volume":"82","author":"Schwartz","year":"2012","journal-title":"Kidney Int"},{"key":"10.1016\/j.ekir.2023.08.008_bib13","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"},{"key":"10.1016\/j.ekir.2023.08.008_bib14","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","article-title":"Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)","volume":"22","author":"Riggs","year":"2020","journal-title":"Genet Med"},{"key":"10.1016\/j.ekir.2023.08.008_bib15","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1038\/s41431-023-01296-x","article-title":"KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease","volume":"31","author":"Boulogne","year":"2023","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib16","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1002\/humu.23626","article-title":"Recommendations for interpreting the loss of function PVS1 ACMG\/AMP variant criterion","volume":"39","author":"Abou Tayoun","year":"2018","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ekir.2023.08.008_bib17","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1038\/gim.2018.42","article-title":"the ClinGen Sequence Variant Interpretation Working Group. The ACMG\/AMP reputable source criteria for the interpretation of sequence variants","volume":"20","author":"Biesecker","year":"2018","journal-title":"Genet Med"},{"key":"10.1016\/j.ekir.2023.08.008_bib18","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1007\/s00439-019-02042-4","article-title":"COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans","volume":"138","author":"Kitzler","year":"2019","journal-title":"Hum Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib19","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/s00439-022-02481-6","article-title":"Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2","volume":"142","author":"Christians","year":"2023","journal-title":"Hum Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib20","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1002\/humu.20691","article-title":"Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR","volume":"29","author":"Orten","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ekir.2023.08.008_bib21","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2021.765433","article-title":"Genetic and phenotypic variability in Chinese patients with branchio-oto-renal or Branchio-Oto syndrome","volume":"12","author":"Feng","year":"2021","journal-title":"Front Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib22","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1136\/jmg.38.6.374","article-title":"GATA3 abnormalities and the phenotypic spectrum of HDR syndrome","volume":"38","author":"Muroya","year":"2001","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib23","doi-asserted-by":"crossref","first-page":"140","DOI":"10.4274\/jcrpe.1874","article-title":"The first Turkish case of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome","volume":"7","author":"Doneray","year":"2015","journal-title":"J\u00a0Clin Res Pediatr Endocrinol"},{"key":"10.1016\/j.ekir.2023.08.008_bib24","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1002\/humu.20741","article-title":"Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome","volume":"29","author":"Tassabehji","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ekir.2023.08.008_bib25","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1093\/hmg\/ddp008","article-title":"Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes","volume":"18","author":"Asai-Coakwell","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib26","doi-asserted-by":"crossref","first-page":"1681","DOI":"10.1038\/s41431-020-0678-9","article-title":"Rare heterozygous GDF6 variants in patients with renal anomalies","volume":"28","author":"Martens","year":"2020","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib27","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1002\/pd.5556","article-title":"Prenatal diagnosis of HNF1B-associated renal cysts: is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?","volume":"39","author":"Vasileiou","year":"2019","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ekir.2023.08.008_bib28","doi-asserted-by":"crossref","first-page":"2864","DOI":"10.1681\/ASN.2006030277","article-title":"Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the Escape study","volume":"17","author":"Weber","year":"2006","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2023.08.008_bib29","doi-asserted-by":"crossref","first-page":"1613","DOI":"10.2337\/dc06-2618","article-title":"Digenic inheritance of hepatocyte nuclear factor-1alpha and -1beta with maturity-onset diabetes of the young, polycystic thyroid, and urogenital malformations","volume":"30","author":"Karges","year":"2007","journal-title":"Diabetes Care"},{"key":"10.1016\/j.ekir.2023.08.008_bib30","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1038\/ki.2013.508","article-title":"Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract","volume":"85","author":"Hwang","year":"2014","journal-title":"Kidney Int"},{"key":"10.1016\/j.ekir.2023.08.008_bib31","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1093\/ndt\/gfab019","article-title":"Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players","volume":"37","author":"Domingo-Gallego","year":"2022","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.ekir.2023.08.008_bib32","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1038\/ki.2014.202","article-title":"The HNF1B score is a simple tool to select patients for HNF1B gene analysis","volume":"86","author":"Faguer","year":"2014","journal-title":"Kidney Int"},{"key":"10.1016\/j.ekir.2023.08.008_bib33","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1111\/petr.12690","article-title":"New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutation","volume":"20","author":"Kanda","year":"2016","journal-title":"Pediatr Transplant"},{"key":"10.1016\/j.ekir.2023.08.008_bib34","doi-asserted-by":"crossref","DOI":"10.1681\/ASN.2006111282","article-title":"SIX2 and BMP4 mutations associate with anomalous kidney development","volume":"19","author":"Weber","year":"2008","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2023.08.008_bib35","doi-asserted-by":"crossref","first-page":"1716","DOI":"10.1093\/hmg\/ddx086","article-title":"Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations","volume":"26","author":"Kosfeld","year":"2017","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib36","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1038\/ejhg.2011.102","article-title":"Renal coloboma syndrome","volume":"19","author":"Schimmenti","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib37","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1038\/gim.2016.131","article-title":"Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene","volume":"19","author":"Bekheirnia","year":"2017","journal-title":"Genet Med"},{"key":"10.1016\/j.ekir.2023.08.008_bib38","first-page":"751","article-title":"Targeted exome sequencing provided comprehensive genetic diagnosis of congenital anomalies of the kidney and urinary tract","volume":"9","author":"Ahn","year":"2020","journal-title":"J\u00a0Clin Med"},{"key":"10.1016\/j.ekir.2023.08.008_bib39","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1159\/000445679","article-title":"Diverse renal phenotypes observed in a single family with a genetic mutation in paired box protein 2","volume":"6","author":"Iwafuchi","year":"2016","journal-title":"Case Rep Nephrol Dial"},{"key":"10.1016\/j.ekir.2023.08.008_bib40","article-title":"PAX2 mutation-related renal hypodysplasia: review of the literature and three case reports","volume":"9","author":"Chang","year":"2021","journal-title":"Front Pediatr"},{"key":"10.1016\/j.ekir.2023.08.008_bib41","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s00439-015-1610-1","article-title":"Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT)","volume":"135","author":"Kosfeld","year":"2016","journal-title":"Hum Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib42","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 Primers"},{"key":"10.1016\/j.ekir.2023.08.008_bib43","doi-asserted-by":"crossref","first-page":"4747","DOI":"10.1242\/dev.128.23.4747","article-title":"Regulation of ureteric bud outgrowth by Pax2-dependent activation of the glial derived neurotrophic factor gene","volume":"128","author":"Brophy","year":"2001","journal-title":"Development"},{"key":"10.1016\/j.ekir.2023.08.008_bib44","doi-asserted-by":"crossref","first-page":"3105","DOI":"10.1242\/dev.128.16.3105","article-title":"Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development","volume":"128","author":"Nishinakamura","year":"2001","journal-title":"Development"},{"key":"10.1016\/j.ekir.2023.08.008_bib45","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1016\/j.mod.2004.05.019","article-title":"The transcription factor Six2 activates expression of the Gdnf gene as well as its own promoter","volume":"121","author":"Brodbeck","year":"2004","journal-title":"Mech Dev"},{"key":"10.1016\/j.ekir.2023.08.008_bib46","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1242\/dev.02184","article-title":"Pax 2\/8-regulated Gata 3 expression is necessary for morphogenesis and guidance of the nephric duct in the developing kidney","volume":"133","author":"Grote","year":"2006","journal-title":"Development"},{"key":"10.1016\/j.ekir.2023.08.008_bib47","doi-asserted-by":"crossref","first-page":"131","DOI":"10.2170\/physiolsci.M95","article-title":"Essential roles of Sall family genes in kidney development","volume":"56","author":"Nishinakamura","year":"2006","journal-title":"J\u00a0Physiol Sci"},{"key":"10.1016\/j.ekir.2023.08.008_bib48","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1016\/j.devcel.2014.10.015","article-title":"Eya1 interacts with Six2 and Myc to regulate expansion of the nephron progenitor pool during nephrogenesis","volume":"31","author":"Xu","year":"2014","journal-title":"Dev Cell"},{"key":"10.1016\/j.ekir.2023.08.008_bib49","doi-asserted-by":"crossref","first-page":"4704","DOI":"10.1242\/dev.154336","article-title":"HNF1B controls epithelial organization and cell polarity during ureteric bud branching and collecting duct morphogenesis","volume":"144","author":"Desgrange","year":"2017","journal-title":"Development"},{"key":"10.1016\/j.ekir.2023.08.008_bib50","doi-asserted-by":"crossref","first-page":"F1000","DOI":"10.12688\/f1000research.19826.1","article-title":"Duplex kidney formation: developmental mechanisms and genetic predisposition","volume":"9","author":"Kozlov","year":"2020","journal-title":"F1000Res"},{"key":"10.1016\/j.ekir.2023.08.008_bib51","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/S1534-5807(02)00140-5","article-title":"Dapper, a Dishevelled-associated antagonist of beta-catenin and JNK signaling, is required for notochord formation","volume":"2","author":"Cheyette","year":"2002","journal-title":"Dev Cell"},{"key":"10.1016\/j.ekir.2023.08.008_bib52","doi-asserted-by":"crossref","first-page":"8607","DOI":"10.1074\/jbc.M600274200","article-title":"Dapper 1 antagonizes Wnt signaling by promoting dishevelled degradation","volume":"281","author":"Zhang","year":"2006","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.ekir.2023.08.008_bib53","doi-asserted-by":"crossref","first-page":"24133","DOI":"10.1073\/pnas.1909452116","article-title":"Hepatocyte nuclear factor-1beta regulates Wnt signaling through genome-wide competition with beta-catenin\/lymphoid enhancer binding factor","volume":"116","author":"Chan","year":"2019","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ekir.2023.08.008_bib54","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/s00467-013-2671-9","article-title":"BMP signaling and its modifiers in kidney development","volume":"29","author":"Nishinakamura","year":"2014","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.ekir.2023.08.008_bib55","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1007\/s00467-013-2589-2","article-title":"Bone morphogenetic protein signaling in nephron progenitor cells","volume":"29","author":"Oxburgh","year":"2014","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.ekir.2023.08.008_bib56","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1242\/bio.20133780","article-title":"FAK-Src signalling is important to renal collecting duct morphogenesis: discovery using a hierarchical screening technique","volume":"2","author":"Tai","year":"2013","journal-title":"Biol Open"},{"key":"10.1016\/j.ekir.2023.08.008_bib57","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1186\/s13046-020-01650-7","article-title":"COL4A1 promotes the growth and metastasis of hepatocellular carcinoma cells by activating FAK-Src signaling","volume":"39","author":"Wang","year":"2020","journal-title":"J\u00a0Exp Clin Cancer Res"},{"key":"10.1016\/j.ekir.2023.08.008_bib58","doi-asserted-by":"crossref","first-page":"2255","DOI":"10.1681\/ASN.2020111640","article-title":"Slit2-Robo signaling promotes glomerular vascularization and nephron development","volume":"32","author":"Li","year":"2021","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2023.08.008_bib59","doi-asserted-by":"crossref","DOI":"10.1080\/21688370.2017.1331155","article-title":"The role of Slit-Robo signaling in the regulation of tissue barriers","volume":"5","author":"Wu","year":"2017","journal-title":"Tissue Barriers"},{"key":"10.1016\/j.ekir.2023.08.008_bib60","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/S0092-8674(00)81524-X","article-title":"Mesenchymal to epithelial conversion in rat metanephros is induced by LIF","volume":"99","author":"Barasch","year":"1999","journal-title":"Cell"},{"key":"10.1016\/j.ekir.2023.08.008_bib61","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1242\/dev.128.7.1045","article-title":"TGF beta 2, LIF and FGF2 cooperate to induce nephrogenesis","volume":"128","author":"Plisov","year":"2001","journal-title":"Development"},{"key":"10.1016\/j.ekir.2023.08.008_bib62","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/1750-1172-9-34","article-title":"Stuve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology","volume":"9","author":"Mikelonis","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ekir.2023.08.008_bib63","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/B978-0-12-407766-9.00004-3","article-title":"The TBC1D1 gene: structure, function, and association with obesity and related traits","volume":"91","author":"Fontanesi","year":"2013","journal-title":"Vitam Horm"},{"key":"10.1016\/j.ekir.2023.08.008_bib64","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1534\/genetics.117.1125","article-title":"A\u00a0gene implicated in activation of retinoic acid receptor targets is a novel renal agenesis gene in humans","volume":"207","author":"Brophy","year":"2017","journal-title":"Genetics"},{"key":"10.1016\/j.ekir.2023.08.008_bib65","doi-asserted-by":"crossref","first-page":"F683","DOI":"10.1152\/ajprenal.00045.2021","article-title":"Disparate roles of retinoid acid signaling molecules in kidney disease","volume":"320","author":"Chen","year":"2021","journal-title":"Am J Physiol Ren Physiol"},{"key":"10.1016\/j.ekir.2023.08.008_bib66","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1038\/ki.2011.134","article-title":"The rediscovery of uromodulin (tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease","volume":"80","author":"Rampoldi","year":"2011","journal-title":"Kidney Int"},{"key":"10.1016\/j.ekir.2023.08.008_bib67","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/nrneph.2017.101","article-title":"Uromodulin: from physiology to rare and complex kidney disorders","volume":"13","author":"Devuyst","year":"2017","journal-title":"Nat Rev Nephrol"},{"key":"10.1016\/j.ekir.2023.08.008_bib68","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1038\/sj.emboj.7600160","article-title":"A\u00a0transcriptional network in polycystic kidney disease","volume":"23","author":"Gresh","year":"2004","journal-title":"EMBO J"},{"key":"10.1016\/j.ekir.2023.08.008_bib69","doi-asserted-by":"crossref","first-page":"D613","DOI":"10.1093\/nar\/gkaa1024","article-title":"WikiPathways: connecting communities","volume":"49","author":"Martens","year":"2021","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ekir.2023.08.008_bib70","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/j.ajhg.2007.09.023","article-title":"Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways","volume":"82","author":"Bakrania","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib71","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1007\/s00439-011-0968-y","article-title":"BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome","volume":"130","author":"Reis","year":"2011","journal-title":"Hum Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib72","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1038\/s41431-019-0423-4","article-title":"Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: a review of the literature and description of three new cases","volume":"27","author":"Blackburn","year":"2019","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib73","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1002062","article-title":"COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans","volume":"7","author":"Labelle-Dumais","year":"2011","journal-title":"PLoS Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib74","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1038\/gim.2014.210","article-title":"The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature","volume":"17","author":"Meuwissen","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.ekir.2023.08.008_bib75","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1007\/s00439-018-1898-8","article-title":"De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness","volume":"137","author":"Schrauwen","year":"2018","journal-title":"Hum Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib76","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/j.ajhg.2017.09.026","article-title":"Mutations in GREB1L cause bilateral kidney agenesis in humans and mice","volume":"101","author":"De Tomasi","year":"2017","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib77","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1016\/j.ajhg.2017.09.018","article-title":"Exome-wide association study identifies GREB1L mutations in congenital kidney malformations","volume":"101","author":"Sanna-Cherchi","year":"2017","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib78","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1002\/humu.23171","article-title":"Heterozygous pathogenic variant in DACT1 causes an autosomal-dominant syndrome with features overlapping Townes-Brocks syndrome","volume":"38","author":"Webb","year":"2017","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ekir.2023.08.008_bib79","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1136\/jmg.37.8.623","article-title":"Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes","volume":"37","author":"Rickard","year":"2000","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib80","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1002\/ajmg.a.38693","article-title":"Barakat syndrome revisited","volume":"176","author":"Barakat","year":"2018","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ekir.2023.08.008_bib81","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1086\/511280","article-title":"GDF6, a novel locus for a spectrum of ocular developmental anomalies","volume":"80","author":"Asai-Coakwell","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib82","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1186\/1471-2156-11-102","article-title":"Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies","volume":"11","author":"den Hollander","year":"2010","journal-title":"BMC Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib83","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1136\/bjo.2009.173500","article-title":"Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases","volume":"94","author":"Gonzalez-Rodriguez","year":"2010","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.ekir.2023.08.008_bib84","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.3892\/ijmm.2015.2325","article-title":"Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma","volume":"36","author":"Huang","year":"2015","journal-title":"Int J Mol Med"},{"key":"10.1016\/j.ekir.2023.08.008_bib85","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1002\/jbmr.2761","article-title":"A\u00a0new subtype of multiple synostoses syndrome is caused by a mutation in GDF6 that decreases its sensitivity to noggin and enhances its potency as a BMP signal","volume":"31","author":"Wang","year":"2016","journal-title":"J\u00a0Bone Miner Res"},{"key":"10.1016\/j.ekir.2023.08.008_bib86","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"},{"key":"10.1016\/j.ekir.2023.08.008_bib87","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajog.2010.05.022","article-title":"Mutations in the hepatocyte nuclear factor-1beta (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations","volume":"203","author":"Oram","year":"2010","journal-title":"Am J Obstet Gynecol"},{"key":"10.1016\/j.ekir.2023.08.008_bib88","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1038\/jhg.2016.86","article-title":"SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans","volume":"61","author":"Guan","year":"2016","journal-title":"J\u00a0Hum Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib89","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1002\/ajmg.a.37441","article-title":"A\u00a0new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene","volume":"170A","author":"Hufnagel","year":"2016","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ekir.2023.08.008_bib90","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1177\/0022034519835204","article-title":"Crucial and overlapping roles of Six1 and Six2 in craniofacial development","volume":"98","author":"Liu","year":"2019","journal-title":"J\u00a0Dent Res"},{"key":"10.1016\/j.ekir.2023.08.008_bib91","doi-asserted-by":"crossref","first-page":"e50","DOI":"10.1371\/journal.pgen.0010050","article-title":"The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia","volume":"1","author":"Hannula-Jouppi","year":"2005","journal-title":"PLoS Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib92","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1007\/s10519-010-9402-9","article-title":"Genetic variance in a component of the language acquisition device: ROBO1 polymorphisms associated with phonological buffer deficits","volume":"41","author":"Bates","year":"2011","journal-title":"Behav Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib93","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1136\/jmedgenet-2017-104611","article-title":"Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects","volume":"54","author":"Kruszka","year":"2017","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib94","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1016\/j.kint.2022.01.028","article-title":"Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract","volume":"101","author":"M\u00fcnch","year":"2022","journal-title":"Kidney Int"},{"key":"10.1016\/j.ekir.2023.08.008_bib95","series-title":"GeneReviews [Internet]","article-title":"Townes-Brocks syndrome. 2007 Jan 24 [Updated 2016 Jan 14]","author":"Kohlhase","year":"1993"},{"key":"10.1016\/j.ekir.2023.08.008_bib96","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1038\/ng0198-81","article-title":"Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome","volume":"18","author":"Kohlhase","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib97","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1136\/jmg.36.2.89","article-title":"Townes-Brocks syndrome","volume":"36","author":"Powell","year":"1999","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib98","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1136\/jmg.37.6.458","article-title":"A\u00a0SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype","volume":"37","author":"Engels","year":"2000","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib99","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1002\/1096-8628(20010815)102:3<250::AID-AJMG1479>3.0.CO;2-Q","article-title":"Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects","volume":"102","author":"Surka","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib100","doi-asserted-by":"crossref","first-page":"2709","DOI":"10.1093\/hmg\/ddl204","article-title":"TBC1D1 is a candidate for a severe obesity gene and evidence for a gene\/gene interaction in obesity predisposition","volume":"15","author":"Stone","year":"2006","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib101","doi-asserted-by":"crossref","first-page":"9350","DOI":"10.1073\/pnas.0900909106","article-title":"A\u00a0truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia","volume":"106","author":"Dash","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ekir.2023.08.008_bib102","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"},{"key":"10.1016\/j.ekir.2023.08.008_bib103","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/s40246-022-00385-0","article-title":"Variants in genes related to development of the urinary system are associated with Mayer-Rokitansky-Kuster-Hauser syndrome","volume":"16","author":"Chu","year":"2022","journal-title":"Hum Genomics"},{"key":"10.1016\/j.ekir.2023.08.008_bib104","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1038\/ki.2015.319","article-title":"Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT","volume":"89","author":"Nicolaou","year":"2016","journal-title":"Kidney Int"},{"key":"10.1016\/j.ekir.2023.08.008_bib105","doi-asserted-by":"crossref","first-page":"gfac338","DOI":"10.1093\/ndt\/gfac338","article-title":"Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study","author":"Liu","year":"2022","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.ekir.2023.08.008_bib106","doi-asserted-by":"crossref","first-page":"2348","DOI":"10.1681\/ASN.2017121265","article-title":"Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract","volume":"29","author":"van der Ven","year":"2018","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2023.08.008_bib107","doi-asserted-by":"crossref","first-page":"2901","DOI":"10.1681\/ASN.2017010043","article-title":"Targeted exome sequencing identifies PBX1 as involved in monogenic congenital anomalies of the kidney and urinary tract","volume":"28","author":"Heidet","year":"2017","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2023.08.008_bib108","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1053\/j.ajkd.2019.12.008","article-title":"Exome sequencing and identification of phenocopies in patients with clinically presumed hereditary nephropathies","volume":"76","author":"Riedhammer","year":"2020","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.ekir.2023.08.008_bib109","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1186\/s13059-016-1110-1","article-title":"New insights into the generation and role of de novo mutations in health and disease","volume":"17","author":"Acuna-Hidalgo","year":"2016","journal-title":"Genome Biol"},{"key":"10.1016\/j.ekir.2023.08.008_bib110","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A","article-title":"Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient","volume":"14","author":"Marlin","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ekir.2023.08.008_bib111","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1093\/ndt\/gfw271","article-title":"Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome","volume":"32","author":"Belge","year":"2017","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.ekir.2023.08.008_bib112","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1136\/jmg.39.12.882","article-title":"Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy","volume":"39","author":"Hart","year":"2002","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib113","doi-asserted-by":"crossref","first-page":"3369","DOI":"10.1093\/hmg\/ddg353","article-title":"Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics","volume":"12","author":"Rampoldi","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ekir.2023.08.008_bib114","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1038\/sj.ki.5002089","article-title":"The uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect","volume":"71","author":"Wolf","year":"2007","journal-title":"Kidney Int"},{"key":"10.1016\/j.ekir.2023.08.008_bib115","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1093\/ndt\/gfx031","article-title":"Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract","volume":"32","author":"Lei","year":"2017","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.ekir.2023.08.008_bib116","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/s13730-022-00754-7","article-title":"A\u00a0novel combination of OHVIRA syndrome and likely causal variant in UMOD gene","volume":"12","author":"Samanta","year":"2022","journal-title":"CEN Case Rep"},{"key":"10.1016\/j.ekir.2023.08.008_bib117","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.2337\/dc16-2462","article-title":"Diabetes, associated clinical spectrum, long-term prognosis, and genotype\/phenotype correlations in 201 adult patients with hepatocyte nuclear factor 1B (HNF1B) molecular defects","volume":"40","author":"Dubois-Laforgue","year":"2017","journal-title":"Diabetes Care"}],"container-title":["Kidney International Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2468024923014250?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2468024923014250?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T03:45:43Z","timestamp":1762832743000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2468024923014250"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":116,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["S2468024923014250"],"URL":"https:\/\/doi.org\/10.1016\/j.ekir.2023.08.008","relation":{},"ISSN":["2468-0249"],"issn-type":[{"value":"2468-0249","type":"print"}],"subject":[],"published":{"date-parts":[[2023,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life","name":"articletitle","label":"Article Title"},{"value":"Kidney International Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ekir.2023.08.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 International Society of Nephrology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}