Josiane Martin

Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

Pascale Fanen, Nada Ghanem, Michel Vidaud et al. · Genomics · 1992 · 267 citations

Life Sciences, Genetics, Molecular Genetics +14

CFTR Gene Mutations in Adults with Disseminated Bronchiectasis

Emmanuelle Girodon, Cécile Cazeneuve, François Lebargy et al. · European Journal of Human Genetics · 1997 · 150 citations

Medicine, Genetics, Molecular Genetics +13

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

Emma Hilton, Jennifer J. Johnston, Sandra Whalen et al. · European Journal of Human Genetics · 2009 · 109 citations · Full text

Medicine, Ophthalmology, Psychiatry +12

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

Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling

Ilham Ratbi, Marie Legendre, Florence Niel et al. · Human Reproduction · 2007 · 75 citations

Life Sciences, Genetics, Molecular Genetics +17