Last Updated: 09/26/2026
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Found 14 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
Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 08, 2024
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 08, 2021
Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease.
Journal: American journal of physiology. Renal physiology
Published: October 26, 2020
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Journal: American journal of human genetics
Published: April 02, 2020
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
Journal: Journal of the American Society of Nephrology : JASN
Published: June 01, 2018
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
Journal: Journal of the American Society of Nephrology : JASN
Published: December 08, 2017
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.
Journal: Hypertension (Dallas, Tex. : 1979)
Published: September 07, 2017
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Published: August 22, 2017
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.
Journal: Pediatric nephrology (Berlin, Germany)
Published: June 22, 2017
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: April 13, 2017
Last Updated: 09/26/2026