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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
Statement of
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 (
RMID: 0030048758
DOI: 10.1016/j.ophtha.2016.01.009
Appears in Collections:Opthalmology & Visual Sciences publications

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