Caroline Guittard

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Joshua D. Groman, Timothy Hefferon, Teresa Casals et al. · The American Journal of Human Genetics · 2004 · 251 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Mireille Claustres, Caroline Guittard, Dominique Bozon et al. · Human Mutation · 2000 · 250 citations

Life Sciences, Genetics, Molecular Genetics +11

BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies.

C F Schmitt-Bernard, Caroline Guittard, B Arnaud et al. · PubMed · 2000 · 112 citations

Life Sciences, Genetics, Molecular Genetics +17

Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities

Marie Desgeorges, André Mégarbané, Caroline Guittard et al. · Human Genetics · 1997 · 65 citations

Life Sciences, Genetics, Molecular Genetics +12

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?

Mireille Claustres, Jean-Pierre Altiéri, Caroline Guittard et al. · BMC Medical Genetics · 2004 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15