Stéphanie Baert‐Desurmont

Revisiting Li-Fraumeni Syndrome From <i>TP53</i> Mutation Carriers

Gaëlle Bougeard, Mariette Renaux‐Petel, Jean‐Michel Flaman et al. · Journal of Clinical Oncology · 2015 · 753 citations

Medicine, Cancer Biology, Oncology +17

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes

Laurent Castéra, Sophie Krieger, Antoine Rousselin et al. · European Journal of Human Genetics · 2014 · 257 citations

Medicine, Genetics, Oncology +17

Cleft lip/palate and <i>CDH1/E-cadherin</i> mutations in families with hereditary diffuse gastric cancer

Thierry Frébourg, Carla Oliveíra, Patrick Hochain et al. · Journal of Medical Genetics · 2005 · 203 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

Omar Soukarieh, Pascaline Gaildrat, Mohamad Hamieh et al. · PLoS Genetics · 2016 · 167 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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