Nicole Weisschuh
STZ eyetrial(DE)University of Tübingen(DE)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, Glaucoma and retinal disorders, RNA regulation and disease, Mitochondrial Function and Pathology
Most-Cited Works
- → Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma(2016)272 cited
- → Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies(2013)245 cited
- → Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia(2015)212 cited
- → Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma(2012)204 cited
- → Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia(2020)176 cited
- → Common genetic variants associated with open-angle glaucoma(2011)176 cited
- → ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants(2019)162 cited
- → Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci(2017)156 cited
- → Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma(2009)143 cited
- → Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period(2020)133 cited