Capucine Delnatte

High cumulative risks of cancer in patients with <i>PTEN</i> hamartoma tumour syndrome

Virginie Bubien, Françoise Bonnet, Véronique Brouste et al. · Journal of Medical Genetics · 2013 · 358 citations

Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations

Timothy R. Rebbeck, Tara M. Friebel, Eitan Friedman et al. · Human Mutation · 2018 · 298 citations · Full text

Brca1 Mutations, Genetic Testing, Genetics +17

Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

Capucine Delnatte, Damien Sanlaville, Jean-François Mougenot et al. · The American Journal of Human Genetics · 2006 · 146 citations · Full text

Developmental Biology, Cytogenetics, Genetic Disorder +11

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Daniel R. Barnes, Matti A. Rookus, Lesley McGuffog et al. · Genetics in Medicine · 2020 · 137 citations · Full text

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Raphaël Leman, Pascaline Gaildrat, Gérald Le Gac et al. · Nucleic Acids Research · 2018 · 107 citations · Full text