Agathe Ricou

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Raphaël Leman, Béatrice Parfait, Dominique Vidaud et al. · Human Mutation · 2022 · 92 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +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

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

Raphaël Leman, Hélène Tubeuf, Sabine Raad et al. · BMC Genomics · 2020 · 47 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +15

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

Sandrine M. Caputo, Lisa Golmard, Mélanie Léoné et al. · The American Journal of Human Genetics · 2021 · 30 citations · Full text

Life Sciences, Genetics, Oncology +13

Validation of the Clinical Use of GIScar, an Academic-developed Genomic Instability Score Predicting Sensitivity to Maintenance Olaparib for Ovarian Cancer

Raphaël Leman, Etienne Müller, Angélina Legros et al. · Clinical Cancer Research · 2023 · 26 citations · Full text

Medicine, Gynecology, Oncology +17