Disease progression in autosomal dominant cone–rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene

ISCEV Standard for full-field clinical electroretinography (2008 update)

Michael F. Marmor, Anne B. Fulton, Graham E. Holder et al. · Documenta Ophthalmologica · 2008 · 1K citations · Full text

Medicine, Biomedical Engineering, Clinical Vision Science +4

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

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

Melanie M. Sohocki, Stephen P. Daiger, Sara J. Bowne et al. · Human Mutation · 2000 · 334 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration

Prabodha K. Swain, Shiming Chen, Qing-liang Wang et al. · Neuron · 1997 · 281 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

Zhenglin Yang, Yali Chen, Concepción Lillo et al. · Journal of Clinical Investigation · 2008 · 272 citations · Full text

Medicine, Genetics, Molecular Genetics +17