Challenges to Routine Genetic Testing for Inherited Retinal Dystrophies

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

Stephen R. Russell, Jean Bennett, Jennifer Wellman et al. · The Lancet · 2017 · 1.9K citations

Medicine, Ophthalmology, Vision Science +14

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

Edwin M. Stone, Jeaneen L. Andorf, S. Scott Whitmore et al. · Ophthalmology · 2017 · 468 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Recommendations for Genetic Testing of Inherited Eye Diseases

Edwin M. Stone, Anthony J. Aldave, Arlene V. Drack et al. · Ophthalmology · 2012 · 195 citations

Medicine, Genetics, Ophthalmology +14