Laurence HEIDET | Institut Imagine

Presentation

Laurence HEIDET

Hereditary Kidney Diseases

Contact :

laurence.heidet@institutimagine.org

About

Scientific Publications

Publications

2025

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

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

The genetic landscape and clinical spectrum of nephronophthisis and related c..., 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

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena..., Kidney Int
2017

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice., Am J Hum Genet
2017

Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano..., J Am Soc Nephrol
2017

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome., N Engl J Med
2016

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis., Hum Mutat
2016

Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Li..., Springer Science and Business Media LLC
2016

Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Li..., Nat Commun