Shomi S. Bhattacharya

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

James Bainbridge, Alexander J. Smith, Susie S. Barker et al. · New England Journal of Medicine · 2008 · 1.9K citations · Full text

Medicine, Genetics, Ophthalmology +15

Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene () Essential for Maintenance of the Photoreceptor

Carol L. Freund, Cheryl Y. Gregory‐Evans, Takahisa Furukawa et al. · Cell · 1997 · 563 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

Anneke I. den Hollander, Jacoline B. ten Brink, Yvette J.M. de Kok et al. · Nature Genetics · 1999 · 473 citations

Medicine, Genetics, Molecular Genetics +9

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

John A. Wells, John J. Wroblewski, Jeffrey Keen et al. · Nature Genetics · 1993 · 438 citations

Medicine, Genetics, Molecular Genetics +12

A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q

Alan Shiels, Donna S. Mackay, Alexander Ionides et al. · The American Journal of Human Genetics · 1998 · 383 citations · Full text

Medicine, Genetics, Molecular Genetics +11