Luzy Bähr
University of Zurich(CH)
Publications by Year
Research Areas
Retinal Development and Disorders, Glaucoma and retinal disorders, CRISPR and Genetic Engineering, Ocular Disorders and Treatments, Retinal Diseases and Treatments
Most-Cited Works
- → Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies(2016)76 cited
- → Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract(2021)46 cited
- → Biallelic Mutations inCRB1Underlie Autosomal Recessive Familial Foveal Retinoschisis(2016)44 cited
- → Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes(2021)31 cited
- → HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders(2014)31 cited
- → Genotype–phenotype spectrum in isolated and syndromic nanophthalmos(2020)25 cited
- → Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes(2020)24 cited
- → Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases(2021)23 cited
- → Severe retinal degeneration in a patient with Canavan disease(2020)8 cited
- → Two Siblings with Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Pictures(2016)4 cited