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Article

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Ophthalmology - 1 Jul 2017

Taylor Rachel L, Parry Neil R A, Barton Stephanie J, Campbell Christopher, Delaney Claire M, Ellingford Jamie M, Hall Georgina, Hardcastle Claire, Morarji Jiten, Nichol Elisabeth J, Williams Lindsi C, Douzgou Sofia, Clayton-Smith Jill, Ramsden Simon C, Sharma Vinod, Biswas Susmito, Lloyd I Chris, Ashworth Jane L, Black Graeme C, Sergouniotis Panagiotis I

Abstract excerpt

PURPOSE: To assess the clinical usefulness of genetic testing in a pediatric population with inherited retinal disease (IRD). DESIGN: Single-center retrospective case series. PARTICIPANTS: Eighty-five unrelated children with a diagnosis of isolated or syndromic IRD who were referred for clinical genetic testing between January 2014 and July 2016. METHODS: Participants underwent a detailed ophthalmic examination,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28341476
DOI: 10.1016/j.ophtha.2017.02.005

Genes

ABCA4

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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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