Nicole Weisschuh

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

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

Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia

M. Dominik Fischer, Stylianos Michalakis, Barbara Wilhelm et al. · JAMA Ophthalmology · 2020 · 173 citations · Full text

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano et al. · Genetics in Medicine · 2019 · 158 citations · Full text

Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma

Francesca Pasutto, Tomoya Matsumoto, Christian Y. Mardin et al. · The American Journal of Human Genetics · 2009 · 142 citations · Full text

Ocular Disease, Molecular Neuroscience, Signal Transduction +8