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Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing.

Cells - 26 Jul 2024

Chandrasekhar Shwetha, Lin Siying, Jurkute Neringa, Oprych Kathryn, Estramiana Elorrieta Leire, Schiff Elena, Malka Samantha, Wright Genevieve, Michaelides Michel, Mahroo Omar A, Webster Andrew R, Arno Gavin

Abstract excerpt

Biallelic variants in USH2A are associated with retinitis pigmentosa (RP) and Type 2 Usher Syndrome (USH2), leading to impaired vision and, additionally, hearing loss in the latter. Although the introduction of next-generation sequencing into clinical diagnostics has led to a significant uplift in molecular diagnostic rates, many patients remain molecularly unsolved. It is thought that non-coding variants or...

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Identifiers

PMID: 39120292
DOI: 10.3390/cells13151261
PMCID: PMC11311777

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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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