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Article

Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.

Clinical genetics - 1 Jun 2015

Gu X, Guo L, Ji H, Sun S, Chai R, Wang L, Li H

Abstract excerpt

The genetic heterogeneity of non-syndromic hearing loss (NSHL) has hampered the identification of its pathogenic mutations. Several recent studies applied targeted genome enrichment (TGE) and massively parallel sequencing (MPS) to simultaneously screen a large set of known hearing loss (HL) genes. However, most of these studies were focused on familial cases. To evaluate the effectiveness of TGE and MPS on...

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Source

Identifiers

PMID: 24853665
DOI: 10.1111/cge.12431

Genes

CATSPER2
GJB2
STRC
TMPRSS3
TRIOBP

Provenance

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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