G. Lalau

Axonemal Dynein Intermediate-Chain Gene (DNAI1) Mutations Result in Situs Inversus and Primary Ciliary Dyskinesia (Kartagener Syndrome)

Cécile Guichard, Marie-Cécile Harricane, Jean‐Jacques Lafitte et al. · The American Journal of Human Genetics · 2001 · 281 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

Olivier Patat, A. Pagin, Aurore Siegfried et al. · The American Journal of Human Genetics · 2016 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

Christel Thauvin‐Robinet, À. Munck, Frédéric Huet et al. · Journal of Medical Genetics · 2009 · 126 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<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