ArticleKidney international reports2023
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Article in Kidney international reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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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
16 citing papers in PubMed, 23 citations in OpenAlex.
- Integration of Machine Learning-Based Pathogenicity Prediction and Phenotype Matching Improves Variant Prioritization in Rare Clinical Testing.Current issues in molecular biology · 2026Article
- Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxalurias.Orphanet journal of rare diseases · 2026Article
- Prevalence and Genetic Spectrum of Inherited Kidney Diseases: A Chinese Cohort Study.Kidney360 · 2026Article
- Genetic testing in chronic kidney disease of uneXplained cause (CKDx): clinical insights and evolving diagnostic paradigms.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Deciphering the complexity: a case of kidney failure with co-inheritance of COL4A5 and APOE variants.BMC nephrology · 2026Article
- Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.Kidney international reports · 2025Article
- Nephrogenomics, precision medicine and the role of genetic testing in adult kidney disease management.Nature reviews. Nephrology · 2025Review
- Novel COL4A3-COL4A5 variants and digenic inheritance in pediatric Alport syndrome from Southwestern China.Scientific reports · 2025Article
- Exome Sequencing in Pacific Islanders With Nephropathies of Unknown Origin.Kidney international reports · 2025Article
- Article
- Systematic Screening of Autosomal Dominant Tubulointerstitial Kidney Disease- MUC1 27dupC Pathogenic Variant through Exome Sequencing.Journal of the American Society of Nephrology : JASN · 2025Article
- Utility of Genetic Testing in Adults with CKD: A Systematic Review and Meta-Analysis.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Article
- Monogenic Kidney Diseases in Adults With Chronic Kidney Disease (CKD).Deutsches Arzteblatt international · 2024Review
- The Role of Genetic Testing in Adult CKD.Journal of the American Society of Nephrology : JASN · 2024Article
- Exploring the impact and utility of genomic sequencing in established CKD.Clinical kidney journal · 2024Review
Corrections and comments
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Authors and funding
23 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Exome sequencing (ES) has widened the field of nephrogenomics in adult nephrology. In addition to reporting the diagnostic yield of ES in an adult cohort study, we investigated the clinical implications of molecular diagnosis and developed a clinical score to predict the probability of obtaining positive result. Methods: From September 2018 we have used ES to prospectively perform a first-tier liberal exploration of adult nephropathies of unknown origin and/or when a genetic kidney disease was clinically suggested. We also analyzed copy number variant using the same assay. Results: Molecular diagnosis was made in 127 of 538 patients sequenced (diagnostic yield: 24%), comprising 47 distinct monogenic disorders. Eight of these monogenic disorders (17% [8/47]) accounted for 52% of genetic diagnoses. In 98% ( Conclusion: This study reinforces the role of ES as a first-tier exploration for adult chronic kidney disease patients in whom phenotypes are often poor and atypical. Although external validation is required, our clinical score could be a useful tool for the implementation of nephrogenomics in adults.
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Registered trials
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.