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Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study.

Cytogenetic and genome research - 1 Jan 2022

Reis Cláudia Sousa, Quental Sofia, Fernandes Susana, Castedo Sérgio, Moura Carla Pinto

Abstract excerpt

Next-generation sequencing (NGS) technologies revolutionized the molecular diagnosis of sensorineural hearing loss (SNHL) and are now a standard of care. In this study, 71 Portuguese probands with hereditary SNHL were assessed by whole-exome sequencing (WES) targeting a panel of 158 genes related to SNHL, aiming to evaluate the diagnostic yield of this methodological approach and to report the spectrum of...

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Cohort Studies
Exome Sequencing
GTPase-Activating Proteins
Hearing Loss, Sensorineural
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35580552
DOI: 10.1159/000523840

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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