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Article

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

Ophthalmology - 1 Nov 2014

Gillespie Rachel L, O'Sullivan James, Ashworth Jane, Bhaskar Sanjeev, Williams Simon, Biswas Susmito, Kehdi Elias, Ramsden Simon C, Clayton-Smith Jill, Black Graeme C, Lloyd I Christopher

Abstract excerpt

PURPOSE: To assess the utility of integrating genomic data from next-generation sequencing and phenotypic data to enhance the diagnosis of bilateral congenital cataract (CC). DESIGN: Evaluation of diagnostic technology. PARTICIPANTS: Thirty-six individuals diagnosed with nonsyndromic or syndromic bilateral congenital cataract were selected for investigation through a single ophthalmic genetics clinic. METHODS:...

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PMID: 25148791
DOI: 10.1016/j.ophtha.2014.06.006

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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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