Marie des Georges

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

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Manfred Stuhrmann, Michael A. Morris, Teresa Casals et al. · European Journal of Human Genetics · 2008 · 242 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

<i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants

Mireille Claustres, C. Thèze, Marie des Georges et al. · Human Mutation · 2017 · 91 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease

Abul Kalam Azad, R. D. Rauh, F. Vermeulen et al. · Human Mutation · 2009 · 90 citations

Life Sciences, Genetics, Molecular Genetics +17