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Article

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.

International journal of molecular sciences - 31 Mar 2022

Nash Benjamin M, Ma Alan, Ho Gladys, Farnsworth Elizabeth, Minoche Andre E, Cowley Mark J, Barnett Christopher, Smith Janine M, Loi To Ha, Wong Karen, St Heaps Luke, Wright Dale, Dinger Marcel E, Bennetts Bruce, Grigg John R, Jamieson Robyn V

Abstract excerpt

The inherited retinal dystrophies (IRDs) are a clinically and genetically complex group of disorders primarily affecting the rod and cone photoreceptors or other retinal neuronal layers, with emerging therapies heralding the need for accurate molecular diagnosis. Targeted capture and panel-based strategies examining the partial or full exome deliver molecular diagnoses in many IRD families tested. However,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35409265
DOI: 10.3390/ijms23073905
PMCID: PMC8999823

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