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Article

Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.

International journal of molecular sciences - 17 Jan 2022

Stephenson Kirk A J, Zhu Julia, Dockery Adrian, Whelan Laura, Burke Tomás, Turner Jacqueline, O'Byrne James J, Farrar G Jane, Keegan David J

Abstract excerpt

Although rare, inherited retinal degenerations (IRDs) are the most common reason for blind registration in the working age population. They are highly genetically heterogeneous (>300 known genetic loci), and confirmation of a molecular diagnosis is a prerequisite for many therapeutic clinical trials and approved treatments. First-tier genetic testing of IRDs with panel-based next-generation sequencing (pNGS) has...

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Identifiers

PMID: 35055178
DOI: 10.3390/ijms23020995
PMCID: PMC8780304

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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