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Article

DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.

BMJ open - 19 May 2015

Tang Hsiao-Yuan, Fang Ping, Lin Jerry W, Darilek Sandra, Osborne Brooke T, Haymond Jo Ann, Manolidis Spiros, Roa Benjamin B, Oghalai John S, Alford Raye L

Abstract excerpt

OBJECTIVES: Aetiological assessment of 71 probands whose clinical presentation suggested a genetic syndrome or auditory neuropathy. METHODS: Sanger sequencing was performed on DNA isolated from peripheral blood or lymphoblastoid cell lines. Genes were selected for sequencing based on each patient's clinical presentation and suspected diagnosis. Observed DNA sequence variations were assessed for pathogenicity by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25991456
DOI: 10.1136/bmjopen-2014-007506
PMCID: PMC4442153

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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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