Guillaume DORVAL | Institut Imagine

Présentation

Guillaume DORVAL

Laboratoire des Maladies Rénales Héréditaires

Contact :

guillaume.dorval@inserm.fr

À propos

Publications scientifiques

Publications

2025

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid mo..., JCI Insight
2025

Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease., Clin J Am Soc Nephrol
2025

Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital ..., Wiley
2025

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity., J Hum Immun
2024

Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding..., Kidney Int
2024

Steroid-Resistant Nephrotic Syndrome due to Variants Is Not Associated With ..., Kidney Int Rep
2023

VNtyper enables accurate alignment-free genotyping of coding VNTR using shor..., iScience
2023

Investigating genotype‐to‐phenotype correlation in <scp>CHARGE</scp> syndrome..., Wiley
2023

A wave of deep intronic mutations in X-linked Alport syndrome., Kidney Int
2023

Overcoming the challenges associated with identification of deep intronic var..., Clin Genet
2022

Targeted next-generation sequencing in a large series of fetuses with severe ..., Hum Mutat
2020

Pseudouridylation defect due to and mutations causes nephrotic syndrome wit..., Proc Natl Acad Sci U S A
2019

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via De..., Am J Hum Genet