Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families

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

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Isabelle Perrault, Jean‐Michel Rozet, Patrick Calvas et al. · Nature Genetics · 1996 · 447 citations

Life Sciences, Genetics, Molecular Genetics +10

Photoreceptor Deactivation and Retinal Degeneration Mediated by a Photoreceptor-Specific Protein Kinase C

Dean P. Smith, Rama Ranganathan, Robert W. Hardy et al. · Science · 1991 · 238 citations

Life Sciences, Molecular Biology, Vision Science +17

Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy

Rosemary E. Kelsell, Kevin Gregory-Evans, Annette Payne et al. · Human Molecular Genetics · 1998 · 232 citations

Medicine, Genetics, Molecular Genetics +13

Hereditary retinal degeneration in Drosophila melanogaster. A mutant defect associated with the phototransduction process.

William A. Harris, William S. Stark · The Journal of General Physiology · 1977 · 229 citations · Full text

Life Sciences, Biology, Entomology +16