Veselina Moskova‐Doumanova

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

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

EYS is a major gene for rod-cone dystrophies in France

Isabelle Audo, José‐Alain Sahel, Saddek Mohand‐Saïd et al. · Human Mutation · 2010 · 109 citations · Full text

Medicine, Genetics, Ophthalmology +17

Genotyping Microarray for CSNB-Associated Genes

Christina Zeitz, Stephan Labs, Birgit Lorenz et al. · Investigative Ophthalmology & Visual Science · 2009 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod–Cone Dystrophy Patients

Isabelle Audo, Gaël Manès, Saddek Mohand‐Saïd et al. · Investigative Ophthalmology & Visual Science · 2010 · 57 citations · Full text

Life Sciences, Genetics, Ophthalmology +14