Christel Vaché

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 6

Top Venues

European journal of human genetics : EJHG

Human mutation

Diagnostics (Basel, Switzerland)

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Christel Vaché, Valérie Faugère, David Baux, Luke Mansard, Charles Van Goethem, Claire-Marie Dhaenens, Olivier Grunewald, Isabelle Audo, Christina Zeitz, Isabelle Meunier, Béatrice Bocquet, Mireille Cossee, Anne Bergougnoux, Vasiliki Kalatzis, Anne-Françoise Roux
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa. European journal of human genetics : EJHG (2024)
Christel Vaché, Nicolas Cubedo, Luke Mansard, Jérôme Sarniguet, David Baux, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Renaud Touraine, Geneviève Lina-Granade, Mireille Cossée, Anne Bergougnoux, Vasiliki Kalatzis, Mireille Rossel, Anne-Françoise Roux
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss. European journal of human genetics : EJHG (2023)
Luke Mansard, Christel Vaché, Julie Bianchi, Corinne Baudoin, Isabelle Perthus, Bertrand Isidor, Catherine Blanchet, David Baux, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux
Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss. Diagnostics (Basel, Switzerland) 12 (1) (2022)
Luke Mansard, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, Marjolaine Willems, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Julie Bianchi, Helene Dollfus, Brigitte Gilbert-Dussardier, Delphine Dupin-Deguine, Dominique Bonneau, Isabelle Drumare, Sylvie Odent, Xavier Zanlonghi, Mireille Claustres, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A . International journal of molecular sciences 22 (24) (2021)
Christel Vaché, David Baux, Julie Bianchi, Corinne Baudoin, Valérie Faugère, Christine Francannet, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux
Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss. European journal of human genetics : EJHG (2021)
Christel Vaché, Simona Torriano, Valérie Faugère, Nejla Erkilic, David Baux, Gema Garcia-Garcia, Christian P Hamel, Isabelle Meunier, Xavier Zanlonghi, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses. Human mutation 40 (1) (2018)

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Publication Activity (10 Years)

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Christel Vaché