Anne Bergougnoux

Mutations in<i>TREM2</i>lead to pure early-onset dementia without bone cysts

Éliane Chouery, Valérie Delague, Anne Bergougnoux et al. · Human Mutation · 2008 · 125 citations · Full text

Medicine, Genetics, Molecular Genetics +17

MobiDetails: online DNA variants interpretation

David Baux, Charles Van Goethem, Olivier Ardouin et al. · European Journal of Human Genetics · 2020 · 97 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

Transcription factors and miRNAs that regulate fetal to adult<i>CFTR</i>expression change are new targets for cystic fibrosis

Victoria Viart, Anne Bergougnoux, Jennifer Bonini et al. · European Respiratory Journal · 2014 · 73 citations · Full text

Life Sciences, Genetics, Molecular Biology +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