Raphaël Leman

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

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

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

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

Irene López‐Perolio, Raphaël Leman, Raquel Behar et al. · Journal of Medical Genetics · 2019 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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