Gérald Le Gac

HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype

Sandrine Jacolot, Gérald Le Gac, Virginie Scotet et al. · Blood · 2003 · 161 citations

Life Sciences, Genetics, Molecular Genetics +14

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype

Gérald Le Gac · Human Molecular Genetics · 2004 · 117 citations · Full text

Medicine, Genetics, Molecular Genetics +15

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