Isabelle Drumare

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 · 250 citations · Full text

Ophthalmology, Genetic Disorder, Genetics +2

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 · 132 citations · Full text

Ocular Disease, Developmental Biology, Mendelian Disorder +6

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

Ajoy Vincent, Isabelle Audo, Erika Tavares et al. · The American Journal of Human Genetics · 2016 · 60 citations · Full text

Biallelic Mutations, Gnb3 Cause, Mendelian Disorder +7

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <i>TYR</i> gene

Solène Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet et al. · British Journal of Ophthalmology · 2018 · 41 citations · Full text

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome

Sophie Scheidecker, Sarah Hull, Yaumara Perdomo et al. · American Journal of Ophthalmology · 2015 · 38 citations

Cone-system Dysfunction, Ocular Disease, Retina +8