Charlotte M. Poloschek

Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

Nicola Ragge, Alison G. M. Brown, Charlotte M. Poloschek et al. · The American Journal of Human Genetics · 2005 · 309 citations · Full text

Ocular Disease, Ophthalmology, Genetics +3

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

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

Nicola Glöckle, Susanne Kohl, Julia Mohr et al. · European Journal of Human Genetics · 2013 · 244 citations · Full text

Ocular Disease, Panel-based Next Generation, Mendelian Disorder +9

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

Photopic Negative Response versus Pattern Electroretinogram in Early Glaucoma

Dunja Preiser, Wolf A. Lagrèze, Michael Bach et al. · Investigative Ophthalmology & Visual Science · 2013 · 127 citations