Isabelle Audo

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Lars G. Fritsche, Wilmar Igl, Jessica N. Cooke Bailey et al. · Nature Genetics · 2015 · 1.6K citations · Full text

Life Sciences, Genetics, Ophthalmology +13

Partial recovery of visual function in a blind patient after optogenetic therapy

José‐Alain Sahel, Élise Boulanger-Scemama, Chloé Pagot et al. · Nature Medicine · 2021 · 690 citations

Medicine, Ophthalmology, Vision Science +12

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo, Susanne Kohl, Bart P. Leroy et al. · The American Journal of Human Genetics · 2009 · 262 citations · Full text

Life Sciences, Genetics, Neuroscience +10

NMNAT1 mutations cause Leber congenital amaurosis

Marni J. Falk, Qi Zhang, Eiko Nakamaru‐Ogiso et al. · Nature Genetics · 2012 · 203 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

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