ArticleNature genetics2019
The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Erratum issued Registry-linked trialAbstract read
In one paragraph
Article in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT00327860 (Chronic Kidney Disease in Children Prospective Cohort Study), which is not on this map. Cited by 132 papers.
0numbers the graph read from it
0cells of the map it votes in
132citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Chronic Kidney Disease in Children Prospective Cohort Study (CKiD)
Who cites it
132 citing papers in PubMed.
- Article
- Early diagnosis and intervention in congenital lower urinary tract obstruction: time to revise our approach?Pediatric nephrology (Berlin, Germany) · 2026Review
- APOL1 kidney risk variants and outcomes in children with congenital anomalies of the kidney and urinary tract.Pediatric nephrology (Berlin, Germany) · 2026Article
- A review of congenital anomalies of the kidney and urinary tract (CAKUT) in Africa.Annals of medicine and surgery (2012) · 2026Review
- Multi-organ single-cell analysis of preferential expression of CAKUT genes.BMC nephrology · 2026Article
- Chronic Kidney Disease in Children with Suspected Genetic Etiology: Diagnostic Yield and Clinical Implications.Journal of personalized medicine · 2026Article
- Genetic diagnosis in fetal hydronephrosis: assessment using chromosomal microarray analysis and whole-genome sequencing.Human genomics · 2026Article
- The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations.International journal of molecular sciences · 2026Article
- Interstitial cystitis: a phenotype and rare variant exome sequencing study.EBioMedicine · 2026Article
- Genetics of CAKUT.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).European journal of human genetics : EJHG · 2025Article
- Risk factors for perinatal and neonatal mortality in cases with congenital anomalies of the kidney and urinary tract: a nested cohort study.Pediatric nephrology (Berlin, Germany) · 2025Article
- Functional Characterization of a NovelGenes · 2025Article
- Diagnostic Value of Serum Periostin for Cyst Involution in Children with Multicystic Dysplastic Kidney.Journal of clinical medicine · 2025Article
- Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases.Orphanet journal of rare diseases · 2025Article
- Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.Orphanet journal of rare diseases · 2025Article
- Exome analysis links kidney malformations to developmental disorders and reveals causal genes.Nature communications · 2025Article
- Patterns and Clinical Outcomes of Congenital Anomalies of the Kidney and Urinary Tract in Preterm Infants.Cureus · 2025Article
- FLNA ROD1 and ROD2 Domains are Implicated in Congenital Lower Urinary Tract Obstruction.Kidney international reports · 2025Article
- Ureter development and associated congenital anomalies.Nature reviews. Nephrology · 2025Review
72 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on byCNVs in CAKUT.2019
- Commented on by
- Erratum issued
Authors and funding
90 authors.
Miguel Verbitsky *Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.ORCID http://orcid.org/0000-0002-7066-0552
Rik Westland *Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Alejandra PerezDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Krzysztof KirylukDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Qingxue LiuDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Priya KrithivasanDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Adele MitrottiDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
David A FaselDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.ORCID http://orcid.org/0000-0002-0815-2370
Ekaterina BatourinaDepartment of Urology, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Matthew G SampsonUniversity of Michigan School of Medicine, Department of Pediatrics-Nephrology, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0001-9560-076X
Monica BodriaDivision of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa, Italy.
Max WerthDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Charlly KaoCenter for Applied Genomics, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Jeremiah MartinoDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Valentina P CaponeDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Asaf VivanteDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Shirlee ShrilDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Byum Hee KilDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Maddalena MarasàDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.ORCID http://orcid.org/0000-0003-0712-2329
Jun Y ZhangDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Young-Ji NaDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Tze Y LimDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Dina AhramDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Patricia L WengDepartment of Pediatric Nephrology, UCLA Medical Center and UCLA Medical Center-Santa Monica, Los Angeles, CA, USA.
Erin L HeinzenInstitute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-7268-8559
Alba CarreaDivision of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa, Italy.
Giorgio PiaggioDivision of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa, Italy.
Loreto GesualdoSection of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari, Italy.
Valeria MancaDepartment of Pediatric Urology, Azienda Ospedaliera Brotzu, Cagliari, Italy.
Giuseppe MasnataDepartment of Pediatric Urology, Azienda Ospedaliera Brotzu, Cagliari, Italy.
Maddalena GiganteSection of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari, Italy.ORCID http://orcid.org/0000-0001-8228-7639
Daniele CusiNational Research Council of Italy, Inst. Biomedical Technologies Milano Bio4dreams Scientific Unit, Milano, Italy.
Claudia IzziDipartimento Ostetrico-Ginecologico e Seconda Divisione di Nefrologia ASST, Spedali Civili e Presidio di Montichiari, Brescia, Italy.
Francesco ScolariCattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia, Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari, Brescia, Italy.
Joanna A E van WijkDepartment of Pediatric Nephrology, Amsterdam UMC, Amsterdam, the Netherlands.
Marijan SaragaDepartment of Pediatrics, University Hospital of Split, Split, Croatia.
Domenico SantoroDipartimento di Medicina Clinica e Sperimentale, Università degli Studi di Messina, Messina, Italy.
Giovanni ContiDepartment of Pediatric Nephrology, Azienda Ospedaliera Universitaria "G. Martino", Messina, Italy.
Pasquale ZamboliDivision of Nephrology, University of Campania "Luigi Vanvitell", Naples, Italy.
Hope WhiteDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Dorota DrozdzDepartment of Pediatric Nephrology and Hypertension, Dialysis Unit, Jagiellonian University Medical College, Krakow, Poland.
Katarzyna ZachwiejaDepartment of Pediatric Nephrology and Hypertension, Dialysis Unit, Jagiellonian University Medical College, Krakow, Poland.
Monika MiklaszewskaDepartment of Pediatric Nephrology, Jagiellonian University Medical College, Krakow, Poland.
Marcin TkaczykDepartment of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Daria TomczykDepartment of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Anna KrakowskaDepartment of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Przemyslaw SikoraDepartment of Pediatric Nephrology Medical University of Lublin, Lublin, Poland.
Tomasz JarmolińskiChildren's Department, Międzyrzecki Hospital, Międzyrzecz, Poland.
Maria K Borszewska-KornackaDepartment of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, Katowice, Poland.
Robert PawluchDepartment of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, Katowice, Poland.
Maria SzczepanskaDepartment of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, Katowice, Poland.
Piotr AdamczykDepartment of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, Katowice, Poland.
Malgorzata Mizerska-WasiakDepartment of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland.
Grazyna KrzemienDepartment of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland.
Agnieszka SzmigielskaDepartment of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland.
Marcin ZaniewDepartment of Pediatrics, University of Zielona Góra, Zielona Góra, Poland.
Mark G DobsonDepartment of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
John M DarlowDepartment of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
Prem PuriNational Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
David E BartonDepartment of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.ORCID http://orcid.org/0000-0002-2031-9719
Susan L FurthDepartments of Pediatrics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Division of Nephrology, Children's Hospital of Philadelphia (CHOP), Philadelphia, PA, USA.
Bradley A WaradyDepartment of Pediatrics, University of Missouri-Kansas City School of Medicine, Division of Nephrology, Children's Mercy Kansas City, Kansas City, MO, USA.
Zoran GucevUniversity Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia.
Vladimir J LozanovskiUniversity Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia.
Velibor TasicUniversity Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia.
Isabella PisaniDepartment of Medicine and Surgery, University of Parma, Parma, Italy.
Landino AllegriDepartment of Medicine and Surgery, University of Parma, Parma, Italy.
Lida M RodasRenal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain.
Josep M CampistolRenal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain.
Cécile JeanpierreLaboratory of Hereditary Kidney Diseases, Inserm UMR 1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
Shumyle AlamDepartment of Pediatric Urology, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Pasquale CasaleDepartment of Pediatric Urology, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Craig S WongDivision of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque, NM, USA.
Fangming LinDivision of Pediatric Nephrology, Department of Pediatrics, Columbia University, New York, NY, USA.
Débora M MirandaDepartment of Pediatrics, Unit of Pediatric Nephrology, Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil.
Eduardo A OliveiraDepartment of Pediatrics, Unit of Pediatric Nephrology, Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil.
Ana Cristina Simões-E-SilvaDepartment of Pediatrics, Unit of Pediatric Nephrology, Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil.
Jonathan M BaraschDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Brynn LevyDepartment of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Nan WuDepartment of Orthopedic Surgery, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Medical Research Center of Orthopedics, all at Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China.ORCID http://orcid.org/0000-0002-9429-2889
Friedhelm HildebrandtDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7130-0030
Gian Marco GhiggeriDivision of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa, Italy.
Anna Latos-BielenskaDepartment of Medical Genetics, Poznan University of Medical Sciences, and NZOZ Center for Medical Genetics GENESIS, Poznan, Poland.
Anna Materna-KirylukDepartment of Medical Genetics, Poznan University of Medical Sciences, and NZOZ Center for Medical Genetics GENESIS, Poznan, Poland.
Feng ZhangObstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Virginia E PapaioannouDepartment of Genetics and Development, Columbia University Medical Center, New York, NY, USA. vep1@cumc.columbia.edu.ORCID http://orcid.org/0000-0001-7558-8601
Cathy L MendelsohnDepartment of Urology, Columbia University College of Physicians and Surgeons, New York, NY, USA. clm20@cumc.columbia.edu.ORCID http://orcid.org/0000-0002-4026-4073
Ali G GharaviDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA. ag2239@cumc.columbia.edu.ORCID http://orcid.org/0000-0003-2801-233X
Simone Sanna-CherchiDivision of Nephrology, Department of Medicine, Columbia University, New York, NY, USA. ss2517@cumc.columbia.edu.ORCID http://orcid.org/0000-0002-6185-948X
Funding
Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2MChronic Kidney Disease in Children Study (C-Kid)U01DK066174 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI SUSAN L. FURTH · 2003 to 2026
$25.1MCKiD Cardiovascular Testing Travel SupplementU01DK066143 · NIDDK · CHILDREN'S MERCY HOSP (KANSAS CITY, MO) · PI Bradley Alan Warady · 2003 to 2026
$24.2MThe Kidney Disease in Children Data Management and Analysis Center (KIDMAC)U01DK066116 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI MUNOZ, ALVARO · 2003 to 2017
$17.9MTranscriptional Regulation of Urothelial Differentiation During Homeostasis and Repair in Response to Urinary Tract InfectionU54DK104309 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI JONATHAN M. BARASCH, ALI G GHARAVI · 2014 to 2026
$17.7MThe Kidney Disease in Children Data Management and Analysis Center (KIDMAC)U24DK066116 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI Derek K Ng · 2018 to 2026
$12.6MGenetics of Renal HypodyslasiaR01DK080099 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GHARAVI, ALI G · 2008 to 2023
$6.3MGenetics of IgA nephropathy by integrative network-based association studiesR01DK105124 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Krzysztof Kiryluk · 2015 to 2026
$4.8MRole of T-box genes in mouse developmentR37HD033082 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI PAPAIOANNOU, VIRGINIA E. · 2007 to 2016
$4.1MCentral Biochemistry Laboratory of the CKiD ConsortiumU01DK082194 · NIDDK · UNIVERSITY OF ROCHESTER · PI SCHWARTZ, GEORGE J · 2008 to 2017
$3.5MRetinoic acid signaling controls urothelial development and regeneration.R01DK095044 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MENDELSOHN, CATHY LEE · 2013 to 2021
$3.5MNew genes and pathomechanisms of congenital abnormalities of the kidney (CAKUT)R01DK088767 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2010 to 2019
$3.4MNCATS NIH HHS UL1 TR000040NICHD NIH HHS R37 HD033082NIDDK NIH HHS P20 DK116191NIDDK NIH HHS R01 DK080099NIDDK NIH HHS R01 DK082394NIDDK NIH HHS R01 DK088767NIDDK NIH HHS R01 DK095044NIDDK NIH HHS R01 DK103184NIDDK NIH HHS R01 DK105124NIDDK NIH HHS R01 DK115574NIDDK NIH HHS R21 DK098531NIDDK NIH HHS U01 DK066116NIDDK NIH HHS U01 DK066143NIDDK NIH HHS U01 DK066174NIDDK NIH HHS U01 DK082194NIDDK NIH HHS U24 DK066116NIDDK NIH HHS U54 DK104309NIH HHS 1R01DK103184NIH HHS 1R21DK098531NIH HHS R37HD033082NIH HHS UL1 TR000040
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particularly duplications. Six loci (1q21, 4p16.1-p16.3, 16p11.2, 16p13.11, 17q12 and 22q11.2) accounted for 65% of patients with GD-CNVs. Deletions at 17q12, 4p16.1-p16.3 and 22q11.2 were specific for KA; the 16p11.2 locus showed extensive pleiotropy. Using a multidisciplinary approach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.
Indexed as
Chromosome DeletionDNA Copy Number VariationsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansKidneyMaleUrinary TractUrogenital AbnormalitiesVesico-Ureteral Reflux
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NCT00327860ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.