ArticleNPJ genomic medicine2020
Diagnostic utility of whole-genome sequencing for nephronophthisis.
Article in NPJ genomic medicine, 2020. 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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Who cites it
16 citing papers in PubMed, 21 citations in OpenAlex.
- A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis.CEN case reports · 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
- Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy.Journal of cell science · 2025Article
- Data-driven insights to inform splice-altering variant assessment.American journal of human genetics · 2025Article
- Article
- The Role of Genetic Testing in Adult CKD.Journal of the American Society of Nephrology : JASN · 2024Article
- Integrating rare genetic variants into DPYD pharmacogenetic testing may help preventing fluoropyrimidine-induced toxicity.The pharmacogenomics journal · 2024Article
- Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.Pediatric nephrology (Berlin, Germany) · 2023Article
- Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.Kidney international reports · 2022Article
- Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.Human genomics · 2022Article
- Confirmation of a Phenotypic Entity forGenes · 2022Article
- Emerging Role of Clinical Genetics in CKD.Kidney medicine · 2022Review
- TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.American journal of medical genetics. Part A · 2021Article
- The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients.F1000Research · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- Recent Advances in the Clinical Application of Next-Generation Sequencing.Pediatric gastroenterology, hepatology & nutrition · 2021Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Next-generation sequencing has revolutionized the molecular diagnosis of individuals affected by genetic kidney diseases. Indeed, rapid genetic testing in individuals with suspected inherited nephropathy has not only important implications for diagnosis and prognosis but also for genetic counseling. Nephronophthisis (NPHP) and related syndromes, a leading cause of end-stage renal failure, are autosomal recessive disorders characterized by the variable presentation and considerable locus heterogeneity with more than 90 genes described as single-gene causes. In this case report, we demonstrate the utility of whole-genome sequencing (WGS) for the molecular diagnosis of NPHP by identifying two putative disease-causing intronic mutations in the
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