Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.

Alexandra FrohneSybille VrabelFranco Laccone Juergen Neesen Sebastian Roesch Silvia Dossena Christian Schöfer Klemens Frei Thomas Parzefall

Published in: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery (2024)

More than half of AD HL cases analyzed at our center were solved with WES. Our data demonstrate the importance of genetic testing, especially for the diagnosis of syndromic presentations, enhance the molecular knowledge of genetic HL, and support other laboratories in the interpretation of variants.

Keyphrases

intellectual disability
hearing loss
copy number
healthcare
autism spectrum disorder
electronic health record
genome wide
big data
machine learning
deep learning