Emmanuelle Girodon

Recommendations for the classification of diseases as CFTR-related disorders

Cristina Bombieri, Mireille Claustres, K. De Boeck et al. · Journal of Cystic Fibrosis · 2011 · 421 citations · Full text

Medicine, Clinical Sciences, Molecular Medicine +11

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Manfred Stuhrmann, Michael A. Morris, Teresa Casals et al. · European Journal of Human Genetics · 2008 · 242 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

CFTR gene mutations in adults with disseminated bronchiectasis.

Emmanuelle Girodon, C. Cazeneuve, F Lebargy et al. · PubMed · 1997 · 144 citations

Medicine, Genetics, Molecular Genetics +13

A comprehensive scanning method for rapid detection of β-globin gene mutations and polymorphisms

Nada Ghanem, Emmanuelle Girodon, Michel Vidaud et al. · Human Mutation · 1992 · 102 citations

Medicine, Genetics, Molecular Genetics +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