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Valérie Faugère

University of Montpellier

21

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666

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

2021 European Journal of Human Genetics
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When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.

2021
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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

2020 Frontiers in Genetics
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Assessment of the latest NGS enrichment capture methods in clinical context.

2016 Scientific Reports
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Experience of targeted Usher exome sequencing as a clinical test

2014 Molecular Genetics & Genomic Medicine
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Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

2014 Molecular Vision
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Enrichment of LOVD‐USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

2014 Human Mutation
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Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.

2010 Human Mutation
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Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

2010 Human Mutation
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Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F

2009 European Journal of Medical Genetics
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Citations (22)