Olivier Gribouval

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome.

Journal: JCI insight

Published: April 22, 2025

Genetic screening in kidney transplant candidates.

Journal: Clinical kidney journal

Published: March 26, 2025

Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.

Journal: Pediatric nephrology (Berlin, Germany)

Published: February 20, 2025

Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene.

Journal: Journal of the American Society of Nephrology : JASN

Published: December 09, 2024

Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.

Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation

Published: July 16, 2024

Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.

Journal: Kidney international reports

Published: September 28, 2023

VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.

Journal: iScience

Published: March 03, 2023

Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.

Journal: Clinical genetics

Published: November 08, 2022

A wave of deep intronic mutations in X-linked Alport syndrome.

Journal: Kidney international

Published: July 05, 2022

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Journal: The Journal of clinical investigation

Published: June 01, 2022

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 20, 2020

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Journal: The Journal of clinical investigation

Published: April 29, 2019

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome.

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome.

Genetic screening in kidney transplant candidates.

Genetic screening in kidney transplant candidates.

Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.

Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.

Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene.

Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene.

Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.

Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.

Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.

Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.

VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.

VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.

Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.

Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.

A wave of deep intronic mutations in X-linked Alport syndrome.

A wave of deep intronic mutations in X-linked Alport syndrome.

Human C-terminal CUBN﻿﻿ variants associate with chronic proteinuria and normal renal function.

Human C-terminal CUBN﻿﻿ variants associate with chronic proteinuria and normal renal function.

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.