Last Updated: 09/26/2026
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Found 30 publications
Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease.
Journal: medRxiv : the preprint server for health sciences
Published: August 20, 2026
Diagnostic Yield of Exome Sequencing after Negative or Inconclusive Kidney Genes Panel Testing.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: March 18, 2026
Integrating Genetics Into Nephrology Practice: A New Standard of Care?
Journal: Advances in kidney disease and health
Published: March 10, 2026
Mitochondrial DNA Analysis Should Be Considered in the Genetic Assessment of Focal Segmental Glomerulosclerosis or Unexplained Chronic Kidney Disease: A Case Report.
Journal: Kidney medicine
Published: February 09, 2026
Signals within Complexity: Diabetes Genetic Heterogeneity and Clinical Outcomes in CKD.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: January 08, 2026
Using ddPCR to Identify Large Deletions of Complement Factor H-Related Genes in Atypical Hemolytic Uremic Syndrome.
Journal: The journal of applied laboratory medicine
Published: December 31, 2025
Global Perspectives on Genetic Testing Among Nephrologists.
Journal: Kidney international reports
Published: October 15, 2025
Genetic Testing in the Management of Adult CKD.
Journal: Journal of the American Society of Nephrology : JASN
Published: April 15, 2025
Expanding the Clinical Spectrum of NR4A2-Related Disorder: A Systematic Literature Review and Case Series.
Journal: American journal of medical genetics. Part A
Published: February 03, 2025
Evaluation for genetic disease in kidney transplant candidates: A practice resource.
Journal: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons
Published: August 17, 2024
Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management.
Journal: Kidney international reports
Published: November 03, 2023
Pathogenic BCS1L Mutation Resulting in Hypertrophic Cardiomyopathy: A Unique Presentation of Nuclear Mitochondrial Disease.
Journal: Texas Heart Institute journal
Published: March 31, 2023
Last Updated: 09/26/2026