V. Faugère

发表

Experience of targeted Usher exome sequencing as a clinical test

J. Millán, M. Claustres, S. Malcolm, 2013, Molecular genetics & genomic medicine.

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

A. Roux, C. Hamel, V. Kalatzis, 2017, Human molecular genetics.

Clinical Evaluation and Cone Alterations in Choroideremia.

A. Roux, Marie-Céline Lorenzini, C. Hamel, 2016, Ophthalmology.

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

M. Koenig, A. Roux, C. Hamel, 2018, Human mutation.

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay.

M. Claustres, C. Hamel, S. Tuffery-Giraud, 2003, BMC genetics.

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

A. Vielle, M. Claustres, S. Malcolm, 2006, Journal of Medical Genetics.

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

M. Claustres, S. Malcolm, A. Roux, 2007, Molecular vision.

BMC Medical Genetics BioMed Central Research article Molecular epidemiology of DFNB1 deafness in France

A. Vielle, M. Claustres, N. Pallares-Ruiz, 2004 .

UMD‐USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

C. Béroud, D. Hamroun, M. Claustres, 2008, Human mutation.

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

M. Koenig, R. Touraine, M. Claustres, 2017, Scientific Reports.

Enrichment of LOVD‐USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

M. Claustres, D. Bonneau, S. Malcolm, 2014, Human mutation.

Four-year follow-up of diagnostic service in USH1 patients.

B. Gilbert-Dussardier, M. Claustres, D. Lacombe, 2011, Investigative ophthalmology & visual science.

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome

M. Claustres, S. Malcolm, A. Roux, 2010, Human mutation.

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

M. Claustres, A. Roux, A. Janecke, 2010, Human mutation.

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

Julie Bianchi, A. Roux, C. Vaché, 2021, European Journal of Human Genetics.

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

M. Koenig, Julie Bianchi, A. Roux, 2021, European Journal of Human Genetics.

Assessment of the latest NGS enrichment capture methods in clinical context

David Baux, Anne-Françoise Roux, Michel Koenig, 2016, Scientific Reports.

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

B. Gilbert-Dussardier, Julie Bianchi, M. Claustres, 2021, International journal of molecular sciences.

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

E. Aller, J. Millán, A. Roux, 2014, Molecular vision.

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

A. Roux, C. Blanchet, C. Vaché, 2021, Diagnostics.

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

M. Cossée, A. Roux, G. Lina-Granade, 2023, European Journal of Human Genetics.

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

M. Koenig, A. Roux, J. Puechberty, 2020, Frontiers in Genetics.

Molecular epidemiology of deafness in France reclassifies mutations as common polymorphisms in the GJB 2 gene

A. Vielle, M. Claustres, N. Pallares-Ruiz, 2003 .

Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.

M. Claustres, A. Roux, C. Giannesini, 2009, European journal of medical genetics.

[Usher type I syndrome in children: genotype/phenotype correlation and cochlear implant benefits].

A. Roux, C. Hamel, C. Blanchet, 2007, Revue de laryngologie - otologie - rhinologie.

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

Robert W. Williams, L. Silver, Lu Lu, 2003, BMC Genetics.

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

S. Tuffery-Giraud, V. Faugère, Mireille Claustres, 2003, BMC Genetics.