David Baux

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

Christel Vaché, Thomas Besnard, Pauline Le Berre et al. · Human Mutation · 2011 · 117 citations

Engineering, Genetics, Pathology +16

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

David Baux, Lise Larrieu, Catherine Blanchet et al. · Human Mutation · 2007 · 98 citations

Usherin Gene, Dicysteine Repeats, New Pathogenic Alleles +17

MobiDetails: online DNA variants interpretation

David Baux, Charles Van Goethem, Olivier Ardouin et al. · European Journal of Human Genetics · 2020 · 90 citations · Full text

<i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants

Mireille Claustres, C. Thèze, Marie des Georges et al. · Human Mutation · 2017 · 88 citations

Genetics, Databases, Genetic Epidemiology +22

Whole<i>USH2A</i>Gene Sequencing Identifies Several New Deep Intronic Mutations

Alessandro Liquori, Christel Vaché, David Baux et al. · Human Mutation · 2015 · 86 citations

Bioinformatics, Rna Processing, Deep Intronic Mutations +15