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Article

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

European journal of human genetics : EJHG - 1 Jun 2014

Brownstein Zippora, Abu-Rayyan Amal, Karfunkel-Doron Daphne, Sirigu Serena, Davidov Bella, Shohat Mordechai, Frydman Moshe, Houdusse Anne, Kanaan Moien, Avraham Karen B

Abstract excerpt

Hereditary hearing loss is genetically heterogeneous, with a large number of genes and mutations contributing to this sensory, often monogenic, disease. This number, as well as large size, precludes comprehensive genetic diagnosis of all known deafness genes. A combination of targeted genomic capture and massively parallel sequencing (MPS), also referred to as next-generation sequencing, was applied to determine...

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PMID: 24105371
DOI: 10.1038/ejhg.2013.232
PMCID: PMC4023209

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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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