Jean-François Prud’homme

First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

Stéphanie Baulac, Gilles Huberfeld, Isabelle Gourfinkel‐An et al. · Nature Genetics · 2001 · 763 citations

Genetics, Psychiatric Genetics, Neuropharmacology +9

New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study

François Cornélis, Sabine Fauré, María Martínez et al. · Proceedings of the National Academy of Sciences · 1998 · 470 citations · Full text

Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

Caroline Lefèvre, Florence Jobard, F. Caux et al. · The American Journal of Human Genetics · 2001 · 460 citations · Full text

Mendelian Disorder, Biochemistry, Genetic Disorder +10

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

Caroline Lefèvre, B. Bouadjar, Ayşen Karaduman et al. · Human Molecular Genetics · 2004 · 173 citations · Full text

Developmental Anomaly, Developmental Biology, New Form +13

l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

Meral Topçu, Florence Jobard, Sophie Halliez et al. · Human Molecular Genetics · 2004 · 129 citations · Full text

L-2-hydroxyglutaric Aciduria, Mendelian Disorder, Biochemistry +12