Christoph Friedburg

New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis

Mathias W. Seeliger, Christian Grimm, Fredrik Ståhlberg et al. · Nature Genetics · 2001 · 238 citations

Medicine, Ophthalmology, Vision Science +16

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

Tobias Eisenberger, Christine Neuhaus, Arif O. Khan et al. · PLoS ONE · 2013 · 229 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organisation and synaptic structure

Heinrich Schrewe, Andrea Gehrig, Christoph Friedburg et al. · University of Birmingham Research Portal (University of Birmingham) · 2002 · 213 citations

Medicine, Genetics, Molecular Genetics +17

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

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy

Claudia B. Catarino, Bettina von Livonius, Claudia Priglinger et al. · Journal of Neuro-Ophthalmology · 2020 · 114 citations · Full text

Medicine, Ophthalmology, Pharmacotherapy +15