Bruce W. Tompkins

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The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant nonsyndromic hearing loss (ADNSHL), is unknown as comprehensive population-based genetic screening has not been conducted. We therefore completed unbiased screening for TECTA mutations in a Spanish cohort of 372 probands from ADNSHL families. Three additional families (Spanish, Belgian,(More)
AudioGene is a software system developed at the University of Iowa to classify and predict gene mutations that indicate causal or increased risk factors of disease. We focus on a concise example — the most likely genetic causes of a particular form of inherited hearing loss — ADNSHL. Whereas the cost and throughput involved in the collection(More)
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