Florence Jobard

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

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1

Florence Jobard · Human Molecular Genetics · 2002 · 282 citations · Full text

Allelic Variant, Developmental Biology, Genetic Disorder +12

Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome

Florence Jobard · Human Molecular Genetics · 2003 · 257 citations

Mendelian Disorder, Genetic Disorder, Genetics +14

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