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David Baux

University of Montpellier

39

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810

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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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High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

2021 Genetics in Medicine
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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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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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Exon identity influences splicing induced by exonic variants and in silico prediction efficacy

2020 Journal of Cystic Fibrosis
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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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P017 Update of CFTR-France: toward a more relevant dataset for predicting the impact of rare CFTR variants

2019 Journal of Cystic Fibrosis
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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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Citations (31)