Catherine A. Downs
The Alfred Hospital(AU)
Publications by Year
Research Areas
Glaucoma and retinal disorders, Corneal surgery and disorders, Hearing, Cochlea, Tinnitus, Genetics, Retinal Diseases and Treatments, Corneal Surgery and Treatments
Most-Cited Works
- → Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells(2005)225 cited
- → Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma(2000)186 cited
- → Autosomal Dominant Nanophthalmos (NNO1) with High Hyperopia and Angle-Closure Glaucoma Maps to Chromosome 11(1998)132 cited
- → Cosegregation of Open-angle Glaucoma and the Nail-Patella Syndrome(1997)108 cited
- GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.(1998)
- → Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin*(2002)101 cited
- → Familial Large Vestibular Aqueduct Syndrome(1996)95 cited
- → Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy(2003)45 cited
- → Mutation of the FOXC2 gene in familial distichiasis(2003)39 cited
- → HIV disease, metabolic dysfunction and atherosclerosis: A three year prospective study(2019)37 cited