Anne E. Hughes
Department of Medical Genetics
Queen's University Belfast
Belfast
United Kingdom
Name/email consistency: high
- Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking. Hughes, A.E., Orr, N., Patterson, C., Esfandiary, H., Hogg, R., McConnell, V., Silvestri, G., Chakravarthy, U. PLoS Med. (2007)
- A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Hughes, A.E., Orr, N., Esfandiary, H., Diaz-Torres, M., Goodship, T., Chakravarthy, U. Nat. Genet. (2006)
- Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes. Hughes, A.E., Dash, D.P., Jackson, A.J., Frazer, D.G., Silvestri, G. Invest. Ophthalmol. Vis. Sci. (2003)
- Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Hughes, A.E., Ralston, S.H., Marken, J., Bell, C., MacPherson, H., Wallace, R.G., van Hul, W., Whyte, M.P., Nakatsuka, K., Hovy, L., Anderson, D.M. Nat. Genet. (2000)
