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Article

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.

European journal of human genetics : EJHG - 1 May 2020

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

Abstract excerpt

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 which contained both isolated and syndromic IRD genes, were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31836858
DOI: 10.1038/s41431-019-0548-5
PMCID: PMC7171123

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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