Sara J. Bowne

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

Melanie M. Sohocki, Stephen P. Daiger, Sara J. Bowne et al. · Human Mutation · 2000 · 331 citations

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Melanie M. Sohocki, Sara J. Bowne, Lori S. Sullivan et al. · Nature Genetics · 2000 · 287 citations · Full text

Biology, Photoreceptor Cell, Genetic Disorder +6

Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families

Lori S. Sullivan, Sara J. Bowne, David G. Birch et al. · Investigative Ophthalmology & Visual Science · 2006 · 286 citations · Full text

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Feng Wang, Hui Wang, Han-Fang Tuan et al. · Human Genetics · 2013 · 235 citations

Molecular Diagnostic Techniques, Retinitis Pigmentosa, Genetics +10

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

Lori S. Sullivan, John R. Heckenlively, Sara J. Bowne et al. · Nature Genetics · 1999 · 174 citations · Full text

Retina, Ophthalmology, Genetic Disorder +4