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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

Authors :
Lenassi, Eva
Clayton-Smith, Jill
Douzgou, Sofia
Ramsden, Simon C.
Ingram, Stuart
Hall, Georgina
Hardcastle, Claire L.
Fletcher, Tracy A.
Taylor, Rachel L.
Ellingford, Jamie M.
Newman, William D.
Fenerty, Cecilia
Sharma, Vinod
Lloyd, I. Chris
Biswas, Susmito
Ashworth, Jane L.
Black, Graeme C.
Sergouniotis, Panagiotis I.
Source :
Genetics in Medicine; April 2020, Vol. 22 Issue: 4 p745-751, 7p
Publication Year :
2020

Abstract

A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited eye disorders (IEDs).

Details

Language :
English
ISSN :
10983600 and 15300366
Volume :
22
Issue :
4
Database :
Supplemental Index
Journal :
Genetics in Medicine
Publication Type :
Periodical
Accession number :
ejs59920135
Full Text :
https://doi.org/10.1038/s41436-019-0722-8
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