Associated Papers
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
40533884 (PubMed )
Supplement: CGE-109-136-s001.docx
Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease.
Urban GM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.
Granhøj J et al.
Kidney International Reports, 2025
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification.
Mirshahi UL et al.
Kidney International Reports, 2022
Vignette-Based Reflections to Inform Genetic Testing Policies in Living Kidney Donors.
Singh G et al.
Genes, 2022
Importance of Genetic Diagnostics in Adult-Onset Focal Segmental Glomerulosclerosis.
Snoek R et al.
Nephron, 2019
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.
Ellard S et al.
Human Mutation, 2006
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