Steven J. Pittler

Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse.

Steven J. Pittler, Wolfgang Baehr · Proceedings of the National Academy of Sciences · 1991 · 567 citations

Medicine, Genetics, Molecular Genetics +14

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

Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene.

Michael L. Suber, Steven J. Pittler, Na Qin et al. · Proceedings of the National Academy of Sciences · 1993 · 283 citations

Medicine, Genetics, Molecular Genetics +16

Identifying photoreceptors in blind eyes caused by <i>RPE65</i> mutations: Prerequisite for human gene therapy success

Samuel G. Jacobson, Tomás S. Alemán, Artur V. Cideciyan et al. · Proceedings of the National Academy of Sciences · 2005 · 281 citations · Full text

Medicine, Genetics, Ophthalmology +17

Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesterase

S. Huang, Steven J. Pittler, Xizhong Huang et al. · Nature Genetics · 1995 · 256 citations

Medicine, Genetics, Ophthalmology +16