Anne E. Hughes

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

Anne E. Hughes, Stuart H. Ralston, John Marken et al. · Nature Genetics · 2000 · 484 citations

Medicine, Molecular Genetics, Pathobiology +14

A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration

Anne E. Hughes, Nick Orr, Hossein Esfandiary et al. · Nature Genetics · 2006 · 473 citations

Medicine, Genetics, Ophthalmology +12

Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome

Peter F. Zipfel, Matthew Edey, Stefan Heinen et al. · PLoS Genetics · 2007 · 324 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract

Anne E. Hughes, Declan Bradley, Malcolm M. Campbell et al. · The American Journal of Human Genetics · 2011 · 278 citations · Full text

Medicine, Genetics, Ophthalmology +6

Mutations in ANKH Cause Chondrocalcinosis

Adrian Pendleton, Michelle D. Johnson, Anne E. Hughes et al. · The American Journal of Human Genetics · 2002 · 218 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3