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Article

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

American journal of ophthalmology - 1 Aug 2015

Lee Kristy, Berg Jonathan S, Milko Laura, Crooks Kristy, Lu Mei, Bizon Chris, Owen Phillips, Wilhelmsen Kirk C, Weck Karen E, Evans James P, Garg Seema

Abstract excerpt

PURPOSE: To assess the diagnostic yield and the practicality of implementing whole exome sequencing within a clinical ophthalmology setting. DESIGN: Evaluation of a diagnostic protocol. METHODS: setting: Patient participants were enrolled during clinical appointments in a university-based ophthalmic genetics clinic. PATIENT POPULATION: Twenty-six patients with a variety of presumed hereditary retinal dystrophies....

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Identifiers

PMID: 25910913
DOI: 10.1016/j.ajo.2015.04.026
PMCID: PMC4506879

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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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