Application of Next-Generation Sequencing to Identify Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa (adRP)

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

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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

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

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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

Sara J. Bowne, Marian M. Humphries, Lori S. Sullivan et al. · European Journal of Human Genetics · 2011 · 155 citations · Full text

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Mutations in the X-Linked Retinitis Pigmentosa Genes<i>RPGR</i>and<i>RP2</i>Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa

Jennifer D. Churchill, Sara J. Bowne, Lori S. Sullivan et al. · Investigative Ophthalmology & Visual Science · 2013 · 125 citations · Full text

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