Antoine Rousselin

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

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

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 · 111 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

Jean Christophe Théry, Sophie Krieger, Pascaline Gaildrat et al. · European Journal of Human Genetics · 2011 · 95 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families

Laurent Castéra, Valentin Harter, Etienne Müller et al. · Genetics in Medicine · 2018 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16