Marine Guillaud‐Bataille

Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li et al. · Human Mutation · 2019 · 148 citations · Full text

Genetics, Genetic Epidemiology, Pathology +25

Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French <i><scp>FH</scp></i> mutation carriers

Marie Müller, Sophie Ferlicot, Marine Guillaud‐Bataille et al. · Clinical Genetics · 2017 · 145 citations

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 · 84 citations · Full text

Novel germline <i>MET pathogenic variants in French patients with papillary renal cell carcinomas type I</i>

Molka Sebaï, David Tulasne, Sandrine M. Caputo et al. · Human Mutation · 2021 · 18 citations · Full text

Genetics, Renal Pathology, Genetic Epidemiology +16