ArticleKidney international reports2025
Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.
Article in Kidney international reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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.
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Who cites it
1 citing paper in PubMed.
- A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis.CEN case reports · 2026Article
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Authors and funding
11 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Introduction: The cause of kidney failure (KF) often remains undetermined despite extensive diagnostic efforts. Given that genetic kidney diseases are underdiagnosed, we conducted a cross-sectional study to investigate the prevalence in patients with KF of undetermined etiology (uKF) using multifaceted genetic screening. Methods: One hundred twenty-four patients with uKF by age ≤ 50 years previously underwent single-nucleotide polymorphism (SNP)-array and Results: The median age at uKF was 37.5 years, with 92% having adult-onset uKF. WGS identified genetic causes in 26 of 114 (23%). Including all initial 124 families, the combined diagnostic yield was 36 of 124 (29%), with 3 diagnoses from SNP-array, 7 from Conclusion: Using WGS, we identified a genetic cause in 23% of patients with uKF at age 50 or younger, resulting in a combined diagnostic rate of 29%. Most pathogenic variants were detectable by WGS.
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