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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