Hélène Tubeuf

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

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

Brian Harding, Amanda Moccia, Séverine Drunat et al. · The American Journal of Human Genetics · 2016 · 68 citations · Full text

Molecular Neuroscience, Ependyma, Synaptic Signaling +8

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

Edenir Inêz Palmero, Francisco López-Köstner, Carlos Sarroca et al. · BMC Cancer · 2017 · 47 citations · Full text

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 · 43 citations · Full text

Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements

Hélène Tubeuf, Camille Charbonnier, Omar Soukarieh et al. · Human Mutation · 2020 · 43 citations

Pioneer Sre Predictors, Genetics, Rna Splicing +21