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Article

Exome Sequencing Expands the Genetic Diagnostic Spectrum for Pediatric Hearing Loss.

The Laryngoscope - 1 Sept 2023

Perry Julia, Redfield Shelby, Oza Andrea, Rouse Stephanie, Stewart Candace, Khela Harmon, Srinivasan Tarika, Albano Victoria, Shearer Eliot, Kenna Margaret

Abstract excerpt

OBJECTIVES: Genetic testing is the standard-of-care for diagnostic evaluation of bilateral, symmetric, sensorineural hearing loss (HL). We sought to determine the efficacy of a comprehensive genetic testing method, exome sequencing (ES), in a heterogeneous pediatric patient population with bilateral symmetric, bilateral asymmetric, and unilateral HL. METHODS: Trio-based ES was performed for pediatric patients...

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Identifiers

PMID: 36515421
DOI: 10.1002/lary.30507

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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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