Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

Thaddeus P. Dryja, Terri L. McGee, Elias Reichel et al. · Nature · 1990 · 1.1K citations

Medicine, Genetics, Molecular Genetics +12

A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

Philip J. Rosenfeld, Glenn S. Cowley, Terri L. McGee et al. · Nature Genetics · 1992 · 425 citations

Medicine, Genetics, Molecular Genetics +17

Expression of<i>PRPF31</i>mRNA in Patients with Autosomal Dominant Retinitis Pigmentosa: A Molecular Clue for Incomplete Penetrance?

Eranga N. Vithana, Leen Abu‐Safieh, Lucia Pelosini et al. · Investigative Ophthalmology & Visual Science · 2003 · 129 citations

Medicine, Genetics, Molecular Genetics +13

Autosomal dominant retinitis pigmentosa: Linkage to rhodopsin and evidence for genetic heterogeneity

G. Jane Farrar, Peter McWilliam, Daniel G. Bradley et al. · Genomics · 1990 · 129 citations

Medicine, Genetics, Ophthalmology +13

Variation in retinitis pigmentosa-11 (<i>PRPF31</i>or<i>RP11</i>) gene expression between symptomatic and asymptomatic patients with dominant<i>RP11</i>mutations

Carlo Rivolta, Terri L. McGee, Thomas Rio Frio et al. · Human Mutation · 2006 · 110 citations

Life Sciences, Genetics, Molecular Genetics +13