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 · 136 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

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 · 125 citations · Full text

Medicine, Ophthalmology, Pathology +17

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

Life Sciences, Genetics, Molecular Genetics +17

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 · 103 citations

Medicine, Genetics, Molecular Genetics +15

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 · 96 citations

Veterinary Medicine, Molecular Biology, Ophthalmology +17