Valerie Faugere

Montpellier, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 14 publications

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.

Journal: European journal of human genetics : EJHG

Published: December 12, 2023

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.

Journal: European journal of human genetics : EJHG

Published: March 13, 2023

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.

Journal: International journal of molecular sciences

Published: October 29, 2021

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss.

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss.

Journal: European journal of human genetics : EJHG

Published: October 01, 2021

When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.

When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.

Journal: Diagnostics (Basel, Switzerland)

Published: August 19, 2021

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1.

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1.

Journal: Frontiers in genetics

Published: April 17, 2020

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.

Journal: Human mutation

Published: July 12, 2018

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

Journal: Scientific reports

Published: September 12, 2017

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.

Journal: Human molecular genetics

Published: May 04, 2017

Clinical Evaluation and Cone Alterations in Choroideremia.

Clinical Evaluation and Cone Alterations in Choroideremia.

Journal: Ophthalmology

Published: January 10, 2016

Assessment of the latest NGS enrichment capture methods in clinical context.

Assessment of the latest NGS enrichment capture methods in clinical context.

Journal: Scientific reports

Published: November 03, 2015

Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

Journal: Human mutation

Published: March 26, 2014

Showing 1-12 of 14

Last Updated: 09/26/2026