@article{2cd580f3d34e4eeca63062c12a472f9a,
title = "Advances in genetic diagnostics for hereditary hearing loss",
abstract = "Hereditary hearing loss affects a significant proportion of the hearing impaired, with genetic mutations estimated to be responsible for its etiology in over 50% of this population. The methods for molecular diagnostics are changing as a result of the transition from linkage analysis to next generation sequencing to identify the genes responsible for hearing loss in affected families. In this review, we summarize the attitudes of the hearing impaired towards genetic testing, the latest techniques for identifying mutations, and provide a comprehensive list of the mutations found in the Israeli Jewish hearingimpaired population.",
keywords = "Deafness, Exome sequencing, Massively parallel sequencing, Mutations, Targeted capture",
author = "Natali Idan and Zippora Brownstein and Shaked Shivatzki and Avraham, {Karen B.}",
year = "2013",
month = sep,
doi = "10.1515/jbcpp-2013-0063",
language = "אנגלית",
volume = "24",
pages = "165--170",
journal = "Journal of Basic and Clinical Physiology and Pharmacology",
issn = "0792-6855",
publisher = "Walter de Gruyter GmbH",
number = "3",
}