A. Pagin

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

<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

Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours

A. Pagin, Farid Zerimech, Julie Leclerc et al. · British Journal of Cancer · 2013 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

Anne Bergougnoux, Karine Delétang, A. Pommier et al. · Journal of Cystic Fibrosis · 2018 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Novel ADGRG2 truncating variants in patients with X‐linked congenital absence of vas deferens

A. Pagin, Anne Bergougnoux, Emmanuelle Girodon et al. · Andrology · 2019 · 34 citations · Full text

Medicine, Genetics, Molecular Genetics +17