Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

• Hoofdauteurs: Morag A. Lewis (Auteur), Lisa S. Nolan (Auteur), Barbara A. Cadge (Auteur), Lois J. Matthews (Auteur), Bradley A. Schulte (Auteur), Judy R. Dubno (Auteur), Karen P. Steel (Auteur), Sally J. Dawson (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2018-09-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract Background Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common form of deafness: adult-onset progressive hearing loss. Despite several...