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Article

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Ophthalmology - 1 Sept 2017

Stone Edwin M, Andorf Jeaneen L, Whitmore S Scott, DeLuca Adam P, Giacalone Joseph C, Streb Luan M, Braun Terry A, Mullins Robert F, Scheetz Todd E, Sheffield Val C, Tucker Budd A

Abstract excerpt

PURPOSE: To devise a comprehensive multiplatform genetic testing strategy for inherited retinal disease and to describe its performance in 1000 consecutive families seen by a single clinician. DESIGN: Retrospective series. PARTICIPANTS: One thousand consecutive families seen by a single clinician. METHODS: The clinical records of all patients seen by a single retina specialist between January 2010 and June 2016...

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Source

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Identifiers

PMID: 28559085
DOI: 10.1016/j.ophtha.2017.04.008
PMCID: PMC5565704

Genes

ABCA4
RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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