R E Bonshek

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Emma M.M. Burkitt Wright, Helen Spencer, Sarah B. Daly et al. · The American Journal of Human Genetics · 2011 · 135 citations · Full text

Developmental Biology, Corneal Dystrophy, Genetics +5

An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis

A. S. Jun, Narendrakumar Ramanan, Mario Matthaei et al. · Human Molecular Genetics · 2011 · 120 citations · Full text

Heterogeneity in granular corneal dystrophy: Identification of three causative mutations in the TGFBI (BIGH3) gene?Lessons for corneal amyloidogenesis

Helen Stewart, Michael J. Dixon, R E Bonshek et al. · Human Mutation · 1999 · 111 citations

Genetics, Granular Corneal Dystrophy, Genetic Epidemiology +20

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy

Helen Stewart, Graeme C. Black, D Donnai et al. · Ophthalmology · 1999 · 102 citations

Lattice Corneal Dystrophy, Mendelian Disorder, Ophthalmology +7

Prion Protein Accumulation in Eyes of Patients with Sporadic and Variant Creutzfeldt-Jakob Disease

Mark Head, Victoria Northcott, Kathleen A. Rennison et al. · Investigative Ophthalmology & Visual Science · 2003 · 95 citations