Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/107068
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Type: | Journal article |
Title: | Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease |
Author: | Ellingford, J. Barton, S. Bhaskar, S. Williams, S. Sergouniotis, P. O'Sullivan, J. Lamb, J. Perveen, R. Hall, G. Newman, W. Bishop, P. Roberts, S. Leach, R. Tearle, R. Bayliss, S. Ramsden, S. Nemeth, A. Black, G. |
Citation: | Ophthalmology, 2016; 123(5):1143-1150 |
Publisher: | American Academy of Ophthalmology |
Issue Date: | 2016 |
ISSN: | 0161-6420 1549-4713 |
Statement of Responsibility: | Jamie M. Ellingford, Stephanie Barton, Sanjeev Bhaskar, Simon G. Williams, Panagiotis I. Sergouniotis, James O, Sullivan, Janine A. Lamb, Rahat Perveen, Georgina Hall, William G. Newman, Paul N. Bishop, Stephen A. Roberts, Rick Leach, Rick Tearle, Stuart Bayliss, Simon C. Ramsden, Andrea H. Nemeth, Graeme C.M. Black |
Abstract: | Abstract not available |
Keywords: | Humans Eye Diseases, Hereditary Retinal Diseases Molecular Diagnostic Techniques Sensitivity and Specificity Retrospective Studies Sequence Analysis, DNA Genotype Polymorphism, Single Nucleotide Genome Female Male High-Throughput Nucleotide Sequencing |
Rights: | © 2016 by the American Academy of Ophthalmology. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
DOI: | 10.1016/j.ophtha.2016.01.009 |
Published version: | http://dx.doi.org/10.1016/j.ophtha.2016.01.009 |
Appears in Collections: | Aurora harvest 3 Opthalmology & Visual Sciences publications |
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hdl_107068.pdf | Published Version | 886.01 kB | Adobe PDF | View/Open |
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