Aurore Germain

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Isabelle Audo, Kinga M. Bujakowska, Thierry Léveillard et al. · Orphanet Journal of Rare Diseases · 2012 · 172 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo, Kinga M. Bujakowska, Elise Orhan et al. · The American Journal of Human Genetics · 2012 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

A new regulation of IL-6 production in adult cardiomyocytes by β-adrenergic and IL-1β receptors and induction of cellular hypertrophy by IL-6 trans-signalling

Nicolas Szabo‐Fresnais, Florence Lefebvre, Aurore Germain et al. · Cellular Signalling · 2010 · 53 citations · Full text

Life Sciences, Cell Biology, Physiology +10

Novel <i>C2orf71</i> mutations account for ∼1% of cases in a large French arRP cohort

Isabelle Audo, Marie‐Elise Lancelot, Saddek Mohand‐Saïd et al. · Human Mutation · 2011 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

Isabelle Audo, Kinga M. Bujakowska, Saddek Mohand‐Saïd et al. · PubMed · 2011 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13