Last Updated: 09/26/2026
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Found 263 publications
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.
Journal: medRxiv : the preprint server for health sciences
Published: July 03, 2026
Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant.
Journal: JAMA network open
Published: March 11, 2026
Real-World Outcomes of a Pediatric Kidney Genetics Clinic: Diagnostic Yield, Variants of Uncertain Significance, and Clinical Translation.
Journal: Kidney360
Published: February 03, 2026
NPHS2 Revisited Through 208 Cases and Podocin Complex Modeling.
Journal: Kidney international reports
Published: November 20, 2025
Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
Journal: Nature communications
Published: October 09, 2025
CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesis.
Journal: bioRxiv : the preprint server for biology
Published: August 08, 2025
Genetic Insights Into Nephrolithiasis and Renal Cancer Predisposition: Precision Medicine in Genes, Diagnosis, and Therapy.
Journal: Seminars in nephrology
Published: July 15, 2025
Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis.
Journal: Kidney international
Published: July 09, 2025
Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis.
Journal: Kidney international
Published: July 09, 2025
Mechanisms of Podocyte Injury Due to Loss of the Nucleoporin NUP93.
Journal: Journal of the American Society of Nephrology : JASN
Published: June 19, 2025
Last Updated: 09/26/2026