Charlotte Reiff

Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells

Andrea Milenkovic, Caroline Brandl, Vladimir M. Milenkovic et al. · Proceedings of the National Academy of Sciences · 2015 · 119 citations · Full text

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Nicole Weisschuh, Anja K. Mayer, Tim M. Strom et al. · PLoS ONE · 2016 · 103 citations · Full text

Engineering, Genetics, Mutation Detection +19

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Kathleen A. Williamson, Hildegard Nikki Hall, Liusaidh J. Owen et al. · Genetics in Medicine · 2019 · 63 citations · Full text

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

Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1

Farina Vocke, Nicole Weisschuh, Valerio Marino et al. · Human Molecular Genetics · 2016 · 31 citations · Full text

Ocular Disease, Progressive Loss, Molecular Biology +17