Sharon E. Smith

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes

Efficient site-specific integration of large genes in mammalian cells via continuously evolved recombinases and prime editing

Norrie disease: Extraocular clinical manifestations in 56 patients

The long-term international safety experience of imiglucerase therapy for Gaucher disease