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Anne-Françoise Roux

University of Montpellier

22

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339

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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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Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date.

2021 Molecular Diagnosis & Therapy
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When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.

2021
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CHM mutation spectrum and disease: An update at the time of human therapeutic trials.

2021 Human Mutation
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SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.

2020 Brain
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Correction: MobiDetails: online DNA variants interpretation.

2020 European Journal of Human Genetics
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Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

2019 Molecular Genetics & Genomic Medicine
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The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders

2019 Human Mutation
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Genome editing in patient iPSC efficiently corrects the most prevalent USH2A mutations and reveals intriguing mutant mRNA expression profiles

2019 Molecular therapy. Methods & clinical development
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Mutations in PLS1, encoding fimbrin, cause autosomal dominant non‐syndromic hearing loss

2019 Human Mutation
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Citations (12)