ArticleJournal of clinical medicine2020
Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract.
Article in Journal of clinical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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.
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Who cites it
19 citing papers in PubMed, 28 citations in OpenAlex.
- The Design and Conduct of Cohort Studies of Peoples With CKD - International Perspectives From iNET-CKD.Kidney international reports · 2026Article
- Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.European journal of human genetics : EJHG · 2025Article
- Chronic Kidney Disease of Unknown Etiology: A Global Health Threat in Rural Agricultural Communities-Prevalence, Suspected Causes, Mechanisms, and Prevention Strategies.Pathophysiology : the official journal of the International Society for Pathophysiology · 2024Review
- Importance ofKidney international reports · 2024Article
- Genetic and Clinical Factors Influencing Congenital Anomalies of the Kidney and Urinary Tract in Children: Insights from Prenatal and Postnatal Assessments.Biomedicines · 2024Article
- Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants.Pediatric nephrology (Berlin, Germany) · 2024Article
- Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.Kidney international reports · 2023Article
- The Role of Genetic Testing in Pediatric Renal Diseases: Diagnostic, Prognostic, and Social Implications.Cureus · 2023Review
- The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution.Human genomics · 2023Article
- Hedgehog-GLI mediated control of renal formation and malformation.Frontiers in nephrology · 2023Review
- Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.BMC nephrology · 2022Article
- Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis.Frontiers in medicine · 2022Article
- Responsible genes in children with primary vesicoureteral reflux: findings from the Chinese Children Genetic Kidney Disease Database.World journal of pediatrics : WJP · 2021Article
- Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5.Frontiers in genetics · 2021Article
- Identification and Characterization of a Cryptic Genomic Deletion-Insertion inNeural plasticity · 2021Article
- Genotype and Phenotype Analyses in Pediatric Patients withJournal of clinical medicine · 2020Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. The search for genetic causes of CAKUT has led to genetic diagnosis in approximately 5-20 % of CAKUT patients from Western countries. In this study, genetic causes of CAKUT in Korean children were sought using targeted exome sequencing (TES) of 60 genes reported to cause CAKUT in human or murine models. We identified genetic causes in 13.8% of the 94 recruited patients. Pathogenic single nucleotide variants of five known disease-causing genes,
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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.