Concepedia

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

Mark Consugar, Daniel Navarro-Gomez, Emily Place, Maria E Sousa, Zoë Fonseca-Kelly, Daniel G. Taub, Maria Janessian, Dan Yi Wang, Elizabeth D. Au, Katherine B. Sims,

Genetics in Medicine · 2014 · 257 citations · 32 references

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32

The number of people with glaucoma worldwide in 2010 and 2020

Harry A. Quigley · British Journal of Ophthalmology · 2006 · 7.4K citations · Full text

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Understanding interobserver agreement: the kappa statistic.

Anthony J. Viera, Joanne M. Garrett · PubMed · 2005 · 7.1K citations

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Causes and Prevalence of Visual Impairment Among Adults in the UnitedStates

Archives of Ophthalmology · 2004 · 2.6K citations · Full text

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Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

Albert M. Maguire, Francesca Simonelli, Eric A. Pierce et al. · New England Journal of Medicine · 2008 · 2.1K citations · Full text

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

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