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 · 473 citations

Bone Disease, Pathology, Signal Peptide +4

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 · 466 citations

Ocular Disease, Ophthalmology, Genetic Disorder +9

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 · 318 citations · Full text

Cfhr3 Is Associated, Immunohematology, 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 · 276 citations · Full text

Genetic Disorder, Genetics, Pathology +4

Mutations in ANKH Cause Chondrocalcinosis

Adrian Pendleton, Michelle D. Johnson, Anne E. Hughes et al. · The American Journal of Human Genetics · 2002 · 216 citations · Full text

Genetics, Surgical Pathology, Histopathology +6