Myriam Vézain

A large fraction of unclassified variants of the mismatch repair genes<i>MLH1</i>and<i>MSH2</i>is associated with splicing defects

Isabelle Tournier, Myriam Vézain, Alexandra Martins et al. · Human Mutation · 2008 · 161 citations

Genetics, Rna Splicing, Molecular Biology +19

Screening <i>BRCA1</i> and <i>BRCA2</i> unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

Céline Bonnet, Sophie Krieger, Myriam Vézain et al. · Journal of Medical Genetics · 2008 · 126 citations

A rare<i>SMN2</i>variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

Myriam Vézain, Pascale Saugier-Véber, Elisa Goina et al. · Human Mutation · 2009 · 121 citations · Full text

Regulatory Element Induces, Genetics, Rna Splicing +17

Contribution of de novo and mosaic <i>TP53</i> mutations to Li-Fraumeni syndrome

Mariette Renaux‐Petel, Françoise Charbonnier, Jean‐Christophe Théry et al. · Journal of Medical Genetics · 2017 · 113 citations

CRISPR-Barcoding for Intratumor Genetic Heterogeneity Modeling and Functional Analysis of Oncogenic Driver Mutations

Alexis Guernet, Sathish Kumar Mungamuri, Dorthe Cartier et al. · Molecular Cell · 2016 · 72 citations · Full text

Functional Genomics, Engineering, Somatic Variant +10