Günther Rudolph

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

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Susanne Kohl, Balázs Varsányi, Gesine Abadin Antunes et al. · European Journal of Human Genetics · 2004 · 244 citations · Full text

Autosomal Recessive Achromatopsia, Mendelian Disorder, Genetic Disorder +7

Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy

Patrick Yu‐Wai‐Man, Nancy J. Newman, Valério Carelli et al. · Science Translational Medicine · 2020 · 220 citations · Full text

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

Franziska Krämer, Karen L. White, Daniel Pauleikhoff et al. · European Journal of Human Genetics · 2000 · 214 citations · Full text

Ocular Disease, Mendelian Disorder, Ophthalmology +9

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Susanne Kohl, Ditta Zobor, Wei‐Chieh Chiang et al. · Nature Genetics · 2015 · 211 citations · Full text

Signal Transduction, Disease Mechanism, Genetic Disorder +7