Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
About this item
Full title
Author / Creator
Jiman, Omamah A. , Taylor, Rachel L. , Lenassi, Eva , Smith, Jill Clayton , Douzgou, Sofia , Ellingford, Jamie M. , Barton, Stephanie , Hardcastle, Claire , Fletcher, Tracy , Campbell, Christopher , Ashworth, Jane , Biswas, Susmito , Ramsden, Simon C. , Manson, Forbes D. , Black, Graeme C. and UK Inherited Retinal Disease Consortium
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Thirty percent of all inherited retinal disease (IRD) is accounted for by conditions with extra-ocular features. This study aimed to establish the genetic diagnostic pick-up rate for IRD patients with one or more extra-ocular features undergoing panel-based screening in a clinical setting. One hundred and six participants, tested on a gene panel wh...
Alternative Titles
Full title
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
Authors, Artists and Contributors
Author / Creator
Taylor, Rachel L.
Lenassi, Eva
Smith, Jill Clayton
Douzgou, Sofia
Ellingford, Jamie M.
Barton, Stephanie
Hardcastle, Claire
Fletcher, Tracy
Campbell, Christopher
Ashworth, Jane
Biswas, Susmito
Ramsden, Simon C.
Manson, Forbes D.
Black, Graeme C.
UK Inherited Retinal Disease Consortium
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7171123
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7171123
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-019-0548-5
