{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T13:00:19Z","timestamp":1785243619831,"version":"3.55.0"},"reference-count":91,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2019,11,18]],"date-time":"2019-11-18T00:00:00Z","timestamp":1574035200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,1,25]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The clinical diagnosis of genetic renal diseases may be limited by the overlapping spectrum of manifestations between diseases or by the advancement of disease where clues to the original process are absent. The objective of this study was to determine whether genetic testing informs diagnosis and facilitates management of kidney disease patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We developed a comprehensive genetic testing panel (KidneySeq) to evaluate patients with various phenotypes including cystic diseases, congenital anomalies of the kidney and urinary tract (CAKUT), tubulointerstitial diseases, transport disorders and glomerular diseases. We evaluated this panel in 127 consecutive patients ranging in age from newborns to 81\u2009years who had samples sent in for genetic testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The performance of the sequencing pipeline for single-nucleotide variants was validated using CEPH (Centre de\u2019Etude du Polymorphism) controls and for indels using Genome-in-a-Bottle. To test the reliability of the copy number variant (CNV) analysis, positive samples were re-sequenced and analyzed. For patient samples, a multidisciplinary review board interpreted genetic results in the context of clinical data. A genetic diagnosis was made in 54 (43%) patients and ranged from 54% for CAKUT, 53% for ciliopathies\/tubulointerstitial diseases, 45% for transport disorders to 33% for glomerulopathies. Pathogenic and likely pathogenic variants included 46% missense, 11% nonsense, 6% splice site variants, 23% insertion\u2013deletions and 14% CNVs. In 13 cases, the genetic result changed the clinical diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Broad genetic testing should be considered in the evaluation of renal patients as it complements other tests and provides insight into the underlying disease and its management.<\/jats:p><\/jats:sec>","DOI":"10.1093\/ndt\/gfz173","type":"journal-article","created":{"date-parts":[[2019,7,27]],"date-time":"2019-07-27T03:12:08Z","timestamp":1564197128000},"page":"295-305","source":"Crossref","is-referenced-by-count":48,"title":["Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases"],"prefix":"10.1093","volume":"36","author":[{"given":"M Adela","family":"Mansilla","sequence":"first","affiliation":[{"name":"Iowa Institute of Human Genetics, University of Iowa, Iowa City, IA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramakrishna R","family":"Sompallae","sequence":"additional","affiliation":[{"name":"Iowa Institute of Human Genetics, University of Iowa, Iowa City, IA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla J","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Iowa Institute of Human Genetics, University of Iowa, Iowa City, IA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne E","family":"Kwitek","sequence":"additional","affiliation":[{"name":"Physiology, Medical College of Wisconsin, Iowa City, IA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mycah J","family":"Kimble","sequence":"additional","affiliation":[{"name":"Iowa Institute of Human Genetics, University of Iowa, Iowa City, IA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret E","family":"Freese","sequence":"additional","affiliation":[{"name":"Internal Medicine, University of Iowa, Iowa City, IA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen A","family":"Campbell","sequence":"additional","affiliation":[{"name":"Iowa Institute of Human Genetics, University of Iowa, Iowa City, IA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J","family":"Smith","sequence":"additional","affiliation":[{"name":"Iowa Institute of Human Genetics, University of Iowa, Iowa City, IA, USA"},{"name":"Internal Medicine, University of Iowa, Iowa City, IA, USA"},{"name":"Pediatrics, University of Iowa, Iowa City, IA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christie P","family":"Thomas","sequence":"additional","affiliation":[{"name":"Internal Medicine, University of Iowa, Iowa City, IA, USA"},{"name":"Pediatrics, University of Iowa, Iowa City, IA, USA"},{"name":"Veterans Affairs Medical Center, Iowa City, IA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,11,18]]},"reference":[{"key":"2021012518001145200_gfz173-B1","first-page":"251","volume-title":"Molecular and Genetic Basis of Renal Disease","author":"Ellison"},{"key":"2021012518001145200_gfz173-B2","doi-asserted-by":"crossref","first-page":"1772","DOI":"10.1681\/ASN.2017111200","article-title":"NPHP1 (nephrocystin-1) gene deletions cause adult-onset ESRD","volume":"29","author":"Snoek","year":"2018","journal-title":"J Am Soc Nephrol"},{"key":"2021012518001145200_gfz173-B3","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1038\/nrm.2017.60","article-title":"Genes and molecular pathways underpinning ciliopathies","volume":"18","author":"Reiter","year":"2017","journal-title":"Nat Rev Mol Cell Biol"},{"key":"2021012518001145200_gfz173-B4","doi-asserted-by":"crossref","first-page":"1991","DOI":"10.1681\/ASN.2013090976","article-title":"Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS","volume":"25","author":"Gbadegesin","year":"2014","journal-title":"J Am Soc Nephrol"},{"key":"2021012518001145200_gfz173-B5","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1111\/apa.12317","article-title":"Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing","volume":"102","author":"Joshi","year":"2013","journal-title":"Acta Paediatr"},{"key":"2021012518001145200_gfz173-B6","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1136\/jmedgenet-2012-101442","article-title":"ARHGDIA: a novel gene implicated in nephrotic syndrome","volume":"50","author":"Gupta","year":"2013","journal-title":"J Med Genet"},{"key":"2021012518001145200_gfz173-B7","doi-asserted-by":"crossref","first-page":"E796","DOI":"10.3390\/ijms18040796","article-title":"Genetics of congenital anomalies of the kidney and urinary tract: the current state of play","volume":"18","author":"Capone","year":"2017","journal-title":"Int J Mol Sci"},{"key":"2021012518001145200_gfz173-B8","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1007\/s00439-015-1570-5","article-title":"Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract","volume":"134","author":"Hwang","year":"2015","journal-title":"Hum Genet"},{"key":"2021012518001145200_gfz173-B9","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.kint.2018.02.027","article-title":"A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases","volume":"94","author":"Bullich","year":"2018","journal-title":"Kidney Int"},{"key":"2021012518001145200_gfz173-B10","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"},{"key":"2021012518001145200_gfz173-B11","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1681\/ASN.2018060575","article-title":"Whole-exome sequencing enables a precision medicine approach for kidney transplant recipients","volume":"30","author":"Mann","year":"2019","journal-title":"J Am Soc Nephrol"},{"key":"2021012518001145200_gfz173-B12","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"},{"key":"2021012518001145200_gfz173-B13","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":"2021012518001145200_gfz173-B14","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1111\/ajt.13970","article-title":"Screening of living kidney donors for genetic diseases using a comprehensive genetic testing strategy","volume":"17","author":"Thomas","year":"2017","journal-title":"Am J Transplant"},{"key":"2021012518001145200_gfz173-B15","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1681\/ASN.2011101032","article-title":"Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing","volume":"23","author":"Rossetti","year":"2012","journal-title":"J Am Soc Nephrol"},{"key":"2021012518001145200_gfz173-B16","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.jmoldx.2012.02.007","article-title":"A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene","volume":"14","author":"Tan","year":"2012","journal-title":"J Mol Diagn"},{"key":"2021012518001145200_gfz173-B17","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1186\/1471-2164-15-661","article-title":"Identification of copy number variants from exome sequence data","volume":"15","author":"Samarakoon","year":"2014","journal-title":"BMC Genomics"},{"key":"2021012518001145200_gfz173-B18","first-page":"1192","article-title":"X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene","volume":"58","author":"Renieri","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2021012518001145200_gfz173-B19","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1681\/ASN.V8121855","article-title":"Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus","volume":"8","author":"Vargas-Poussou","year":"1997","journal-title":"J Am Soc Nephrol"},{"key":"2021012518001145200_gfz173-B20","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/S0272-6386(00)70300-3","article-title":"Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening","volume":"35","author":"Caridi","year":"2000","journal-title":"Am J Kidney Dis"},{"key":"2021012518001145200_gfz173-B21","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1002\/humu.20669","article-title":"Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing","volume":"29","author":"Otto","year":"2008","journal-title":"Hum Mutat"},{"key":"2021012518001145200_gfz173-B22","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1016\/j.jmoldx.2012.06.005","article-title":"Skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport\u2019s syndrome","volume":"14","author":"Wang","year":"2012","journal-title":"J Mol Diagn"},{"key":"2021012518001145200_gfz173-B23","doi-asserted-by":"crossref","first-page":"2143","DOI":"10.1681\/ASN.2006121387","article-title":"Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease","volume":"18","author":"Rossetti","year":"2007","journal-title":"J Am Soc Nephrol"},{"key":"2021012518001145200_gfz173-B24","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/ng0297-157","article-title":"A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family","volume":"15","author":"Abdelhak","year":"1997","journal-title":"Nat Genet"},{"key":"2021012518001145200_gfz173-B25","doi-asserted-by":"crossref","first-page":"1945","DOI":"10.1681\/ASN.2012100985","article-title":"COL4A3\/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome","volume":"24","author":"Storey","year":"2013","journal-title":"J Am Soc Nephrol"},{"key":"2021012518001145200_gfz173-B26","doi-asserted-by":"crossref","first-page":"E511","DOI":"10.1210\/jc.2010-0392","article-title":"The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies","volume":"95","author":"Nozu","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"2021012518001145200_gfz173-B27","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1002\/pd.4858","article-title":"Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases","volume":"36","author":"Duval","year":"2016","journal-title":"Prenat Diagn"},{"key":"2021012518001145200_gfz173-B28","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1093\/ndt\/gfn689","article-title":"Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome","volume":"24","author":"Brochard","year":"2009","journal-title":"Nephrol Dial Transplant"},{"key":"2021012518001145200_gfz173-B29","first-page":"4054","article-title":"A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess","volume":"82","author":"Kitanaka","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"key":"2021012518001145200_gfz173-B30","doi-asserted-by":"crossref","first-page":"2501","DOI":"10.1210\/jc.2002-021909","article-title":"Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess","volume":"88","author":"Carvajal","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"2021012518001145200_gfz173-B31","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/12652","article-title":"Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT","volume":"23","author":"Feliubadalo","year":"1999","journal-title":"Nat Genet"},{"key":"2021012518001145200_gfz173-B32","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1681\/ASN.2012070650","article-title":"Type of PKD1 mutation influences renal outcome in ADPKD","volume":"24","author":"Cornec-Le Gall","year":"2013","journal-title":"J Am Soc Nephrol"},{"key":"2021012518001145200_gfz173-B33","doi-asserted-by":"crossref","first-page":"e63","DOI":"10.1159\/000084572","article-title":"Mutation analysis of autosomal dominant polycystic kidney disease genes in Han Chinese","volume":"100","author":"Zhang","year":"2005","journal-title":"Nephron Exp Nephrol"},{"key":"2021012518001145200_gfz173-B34","doi-asserted-by":"crossref","first-page":"47","DOI":"10.3346\/jkms.2016.31.1.47","article-title":"Mutations in SLC12A3 and CLCNKB and their correlation with clinical phenotype in patients with Gitelman and Gitelman-like syndrome","volume":"31","author":"Lee","year":"2016","journal-title":"J Korean Med Sci"},{"key":"2021012518001145200_gfz173-B35","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1203\/PDR.0b013e318123fb90","article-title":"Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR","volume":"62","author":"Nozu","year":"2007","journal-title":"Pediatr Res"},{"key":"2021012518001145200_gfz173-B36","doi-asserted-by":"crossref","first-page":"2766","DOI":"10.2215\/CJN.06820711","article-title":"Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure","volume":"6","author":"Smith","year":"2011","journal-title":"Clin J Am Soc Nephrol"},{"key":"2021012518001145200_gfz173-B37","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1086\/316939","article-title":"Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications","volume":"68","author":"Rossetti","year":"2001","journal-title":"Am J Hum Genet"},{"key":"2021012518001145200_gfz173-B38","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/ajmg.a.30015","article-title":"Twenty-four new cases of WT1 germline mutations and review of the literature: genotype\/phenotype correlations for Wilms tumor development","volume":"127A","author":"Royer-Pokora","year":"2004","journal-title":"Am J Med Genet A"},{"key":"2021012518001145200_gfz173-B39","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1002\/humu.22364","article-title":"Free the data: one laboratory\u2019s approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data","volume":"34","author":"Bean","year":"2013","journal-title":"Hum Mutat"},{"key":"2021012518001145200_gfz173-B40","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1038\/ki.2009.440","article-title":"Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease","volume":"77","author":"Denamur","year":"2010","journal-title":"Kidney Int"},{"key":"2021012518001145200_gfz173-B41","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1086\/302819","article-title":"Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis","volume":"66","author":"Saunier","year":"2000","journal-title":"Am J Hum Genet"},{"key":"2021012518001145200_gfz173-B42","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1002\/humu.20792","article-title":"Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients","volume":"29","author":"Prattichizzo","year":"2008","journal-title":"Hum Mutat"},{"key":"2021012518001145200_gfz173-B43","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/ng833","article-title":"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein","volume":"30","author":"Ward","year":"2002","journal-title":"Nat Genet"},{"key":"2021012518001145200_gfz173-B44","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/ng.2898","article-title":"Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome","volume":"46","author":"Tory","year":"2014","journal-title":"Nat Genet"},{"key":"2021012518001145200_gfz173-B45","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/ng.756","article-title":"TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum","volume":"43","author":"Davis","year":"2011","journal-title":"Nat Genet"},{"key":"2021012518001145200_gfz173-B46","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1111\/j.1523-1755.2005.00204.x","article-title":"Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts","volume":"67","author":"Wang","year":"2005","journal-title":"Kidney Int"},{"key":"2021012518001145200_gfz173-B47","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1038\/ng.118","article-title":"Rare independent mutations in renal salt handling genes contribute to blood pressure variation","volume":"40","author":"Ji","year":"2008","journal-title":"Nat Genet"},{"key":"2021012518001145200_gfz173-B48","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.ymgme.2009.10.010","article-title":"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis","volume":"99","author":"Gunay-Aygun","year":"2010","journal-title":"Mol Genet Metab"},{"key":"2021012518001145200_gfz173-B49","doi-asserted-by":"crossref","first-page":"F390","DOI":"10.1152\/ajprenal.90526.2008","article-title":"Characterization of Dent\u2019s disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure","volume":"296","author":"Smith","year":"2009","journal-title":"Am J Physiol Renal Physiol"},{"key":"2021012518001145200_gfz173-B50","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1111\/j.1399-0004.2010.01588.x","article-title":"PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies","volume":"80","author":"Negrisolo","year":"2011","journal-title":"Clin Genet"},{"key":"2021012518001145200_gfz173-B51","doi-asserted-by":"crossref","first-page":"2328","DOI":"10.1111\/jcmm.12924","article-title":"A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis","volume":"20","author":"Wu","year":"2016","journal-title":"J Cell Mol Med"},{"key":"2021012518001145200_gfz173-B52","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/0092-8674(91)90194-4","article-title":"Germline mutations in the Wilms\u2019 tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome","volume":"67","author":"Pelletier","year":"1991","journal-title":"Cell"},{"key":"2021012518001145200_gfz173-B53","doi-asserted-by":"crossref","first-page":"2129","DOI":"10.1681\/ASN.2011040388","article-title":"APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy","volume":"22","author":"Kopp","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"2021012518001145200_gfz173-B54","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/S0272-6386(01)80067-6","article-title":"Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent\u2019s disease)","volume":"37","author":"Takemura","year":"2001","journal-title":"Am J Kidney Dis"},{"key":"2021012518001145200_gfz173-B55","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/1096-8628(2000)9999:999<00::AID-AJMG1143>3.0.CO;2-F","article-title":"Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family","volume":"99","author":"Ford","year":"2001","journal-title":"Am J Med Genet"},{"key":"2021012518001145200_gfz173-B56","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1002\/humu.21391","article-title":"From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes","volume":"32","author":"Hichri","year":"2011","journal-title":"Hum Mutat"},{"key":"2021012518001145200_gfz173-B57","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1086\/512735","article-title":"Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux","volume":"80","author":"Lu","year":"2007","journal-title":"Am J Hum Genet"},{"key":"2021012518001145200_gfz173-B58","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1086\/344395","article-title":"A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution","volume":"71","author":"Otto","year":"2002","journal-title":"Am J Hum Genet"},{"key":"2021012518001145200_gfz173-B59","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1038\/ng.2218","article-title":"KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron","volume":"44","author":"Louis-Dit-Picard","year":"2012","journal-title":"Nat Genet"},{"key":"2021012518001145200_gfz173-B60","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.ajhg.2013.04.008","article-title":"Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism","volume":"92","author":"Miraoui","year":"2013","journal-title":"Am J Hum Genet"},{"key":"2021012518001145200_gfz173-B61","doi-asserted-by":"crossref","first-page":"E2138","DOI":"10.1210\/jc.2014-2110","article-title":"The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients","volume":"99","author":"Marcos","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"2021012518001145200_gfz173-B62","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1093\/hmg\/11.4.379","article-title":"Genotype\/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration","volume":"11","author":"Koziell","year":"2002","journal-title":"Hum Mol Genet"},{"key":"2021012518001145200_gfz173-B63","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1002\/humu.21661","article-title":"Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis","volume":"33","author":"Gribouval","year":"2012","journal-title":"Hum Mutat"},{"key":"2021012518001145200_gfz173-B64","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1136\/jmg.2009.067249","article-title":"Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)","volume":"47","author":"Doherty","year":"2010","journal-title":"J Med Genet"},{"key":"2021012518001145200_gfz173-B65","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1111\/j.1523-1755.2002.kid552.x","article-title":"Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes","volume":"62","author":"Botzenhart","year":"2002","journal-title":"Kidney Int"},{"key":"2021012518001145200_gfz173-B66","doi-asserted-by":"crossref","first-page":"891","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 Am Soc Nephrol"},{"key":"2021012518001145200_gfz173-B67","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1006\/mgme.2000.3126","article-title":"Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene","volume":"72","author":"Cole","year":"2001","journal-title":"Mol Genet Metab"},{"key":"2021012518001145200_gfz173-B68","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1681\/ASN.2010090907","article-title":"Spectrum of mutations in Gitelman syndrome","volume":"22","author":"Vargas-Poussou","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"2021012518001145200_gfz173-B69","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1038\/ejhg.2012.139","article-title":"Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies","volume":"21","author":"Beck","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"2021012518001145200_gfz173-B70","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1002\/humu.22294","article-title":"Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease","volume":"34","author":"Schmidts","year":"2013","journal-title":"Hum Mutat"},{"key":"2021012518001145200_gfz173-B71","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1002\/humu.21228","article-title":"Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B","volume":"31","author":"Luoma","year":"2010","journal-title":"Hum Mutat"},{"key":"2021012518001145200_gfz173-B72","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1681\/ASN.2015010016","article-title":"The PROPKD score: a new algorithm to predict renal survival in autosomal dominant polycystic kidney disease","volume":"27","author":"Cornec-Le Gall","year":"2016","journal-title":"J Am Soc Nephrol"},{"key":"2021012518001145200_gfz173-B73","volume-title":"GeneReviews","author":"Stokman","year":"2016"},{"key":"2021012518001145200_gfz173-B74","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1002\/humu.20048","article-title":"Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences","volume":"23","author":"Chang","year":"2004","journal-title":"Hum Mutat"},{"key":"2021012518001145200_gfz173-B75","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1086\/318188","article-title":"Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease","volume":"68","author":"Pei","year":"2001","journal-title":"Am J Hum Genet"},{"key":"2021012518001145200_gfz173-B76","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1111\/j.1365-2362.2007.01913.x","article-title":"Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease","volume":"38","author":"Dedoussis","year":"2008","journal-title":"Eur J Clin Invest"},{"key":"2021012518001145200_gfz173-B77","doi-asserted-by":"crossref","first-page":"1845","DOI":"10.1093\/hmg\/11.16.1845","article-title":"Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease","volume":"11","author":"Wu","year":"2002","journal-title":"Hum Mol Genet"},{"key":"2021012518001145200_gfz173-B78","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1086\/301806","article-title":"Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype\/phenotype correlations by use of a computerized mutation database","volume":"62","author":"Jeanpierre","year":"1998","journal-title":"Am J Hum Genet"},{"key":"2021012518001145200_gfz173-B79","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1126\/science.1193032","article-title":"Association of trypanolytic ApoL1 variants with kidney disease in African-Americans","volume":"329","author":"Genovese","year":"2010","journal-title":"Science"},{"key":"2021012518001145200_gfz173-B80","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1093\/ndt\/gfu391","article-title":"APOL1 nephropathy: from gene to mechanisms of kidney injury","volume":"31","author":"Kruzel-Davila","year":"2016","journal-title":"Nephrol Dial Transplant"},{"key":"2021012518001145200_gfz173-B81","doi-asserted-by":"crossref","first-page":"F1063","DOI":"10.1152\/ajprenal.00408.2014","article-title":"Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit","volume":"307","author":"Zhang","year":"2014","journal-title":"Am J Physiol Renal Physiol"},{"key":"2021012518001145200_gfz173-B82","doi-asserted-by":"crossref","first-page":"1701","DOI":"10.1681\/ASN.2014030247","article-title":"HLA-DQA1 and PLCG2 are candidate risk loci for childhood-onset steroid-sensitive nephrotic syndrome","volume":"26","author":"Gbadegesin","year":"2015","journal-title":"J Am Soc Nephrol"},{"key":"2021012518001145200_gfz173-B83","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1530\/eje.0.1440257","article-title":"Calcium sensing receptor gene polymorphism, circulating calcium concentrations and bone mineral density in healthy adolescent girls","volume":"144","author":"Lorentzon","year":"2001","journal-title":"Eur J Endocrinol"},{"key":"2021012518001145200_gfz173-B84","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1016\/j.ajhg.2012.10.007","article-title":"Copy-number disorders are a common cause of congenital kidney malformations","volume":"91","author":"Sanna-Cherchi","year":"2012","journal-title":"Am J Hum Genet"},{"key":"2021012518001145200_gfz173-B85","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of Mendelian disorders","volume":"369","author":"Yang","year":"2013","journal-title":"N Engl J Med"},{"key":"2021012518001145200_gfz173-B86","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/gim.2014.122","article-title":"Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome\/genome sequencing","volume":"17","author":"Xue","year":"2015","journal-title":"Genet Med"},{"key":"2021012518001145200_gfz173-B87","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"},{"key":"2021012518001145200_gfz173-B88","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.kint.2017.06.025","article-title":"Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis","volume":"93","author":"Daga","year":"2018","journal-title":"Kidney Int"},{"key":"2021012518001145200_gfz173-B89","doi-asserted-by":"crossref","first-page":"1583","DOI":"10.1681\/ASN.2018040441","article-title":"The underestimated burden of monogenic diseases in adult-onset ESRD","volume":"29","author":"Cornec-Le Gall","year":"2018","journal-title":"J Am Soc Nephrol"},{"key":"2021012518001145200_gfz173-B90","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1016\/j.kint.2017.06.013","article-title":"Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders","volume":"92","author":"Mallett","year":"2017","journal-title":"Kidney Int"},{"key":"2021012518001145200_gfz173-B91","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1056\/NEJMoa1516767","article-title":"Resolution of disease phenotypes resulting from multilocus genomic variation","volume":"376","author":"Posey","year":"2017","journal-title":"N Engl J Med"}],"container-title":["Nephrology Dialysis Transplantation"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/ndt\/article-pdf\/36\/2\/295\/36110680\/gfz173.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/ndt\/article-pdf\/36\/2\/295\/36110680\/gfz173.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,24]],"date-time":"2022-09-24T18:34:48Z","timestamp":1664044488000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ndt\/article\/36\/2\/295\/5628183"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,18]]},"references-count":91,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2019,11,18]]},"published-print":{"date-parts":[[2021,1,25]]}},"URL":"https:\/\/doi.org\/10.1093\/ndt\/gfz173","relation":{},"ISSN":["0931-0509","1460-2385"],"issn-type":[{"value":"0931-0509","type":"print"},{"value":"1460-2385","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,2,1]]},"published":{"date-parts":[[2019,11,18]]}}}