Yann Fichou

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

Expanding ACMG variant classification guidelines into a general framework

Emmanuelle Masson, Wen‐Bin Zou, Emmanuelle Génin et al. · Human Genomics · 2022 · 100 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease

Abul Kalam Azad, R. D. Rauh, F. Vermeulen et al. · Human Mutation · 2009 · 90 citations

Life Sciences, Genetics, Molecular Genetics +17

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

Nadia Bahi‐Buisson, Juliette Nectoux, Benôıt Girard et al. · Neurogenetics · 2009 · 83 citations

Life Sciences, Genetics, Molecular Genetics +10