Last Updated: 09/26/2026
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Found 51 publications
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
From Heterogeneity to Precision in Urinary Stone Disease: Who to Test, When, and with What.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: November 10, 2025
Genetic Insights Into Nephrolithiasis and Renal Cancer Predisposition: Precision Medicine in Genes, Diagnosis, and Therapy.
Journal: Seminars in nephrology
Published: July 15, 2025
Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele.
Journal: Frontiers in cell and developmental biology
Published: May 18, 2025
Mesoscale landscaping of the TRIM protein family reveals a novel human condensatopathy.
Journal: bioRxiv : the preprint server for biology
Published: March 04, 2025
Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology.
Journal: Pediatric nephrology (Berlin, Germany)
Published: November 10, 2024
Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective.
Journal: Pediatric nephrology (Berlin, Germany)
Published: November 10, 2024
Mechanisms of podocyte injury in genetic kidney disease.
Journal: Pediatric nephrology (Berlin, Germany)
Published: April 19, 2024
Endothelial HIF-2α regulates murine pathological angiogenesis and revascularization processes.
Journal: The Journal of clinical investigation
Published: April 15, 2024
Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.
Journal: medRxiv : the preprint server for health sciences
Published: April 02, 2024
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
Journal: NPJ genomic medicine
Published: March 27, 2024
Last Updated: 09/26/2026