Isabelle Tournier

Rapid detection of novelBRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

Federica Casilli, Zorika Christiana Di Rocco, Sophie Gad et al. · Human Mutation · 2002 · 172 citations

Medicine, Genetics, Molecular Genetics +15

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 · 163 citations

Life Sciences, Genetics, Molecular Genetics +17

The C-terminal domains of human TNRC6A, TNRC6B, and TNRC6C silence bound transcripts independently of Argonaute proteins

Daniela Lazzaretti, Isabelle Tournier, Elisa Izaurralde · RNA · 2009 · 150 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

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 · 127 citations

Life Sciences, Genetics, Molecular Genetics +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 · 118 citations

Life Sciences, Genetics, Oncology +17