Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients-Reference-Cited by-同舟云学术

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

Published:2017-12 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Baux D.^ORCID,Vaché C.,Blanchet C.,Willems M.,Baudoin C.,Moclyn M.,Faugère V.,Touraine R.,Isidor B.,Dupin-Deguine D.,Nizon M.,Vincent M.,Mercier S.,Calais C.,García-García G.,Azher Z.,Lambert L.,Perdomo-Trujillo Y.,Giuliano F.,Claustres M.,Koenig M.,Mondain M.,Roux A. F.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-017-16846-9.pdf

Reference38 articles.

1. Morton, C. C. & Nance, W. E. Newborn hearing screening–a silent revolution. N Engl J Med 354, 2151–2164, https://doi.org/10.1056/NEJMra050700 (2006).

2. Sloan-Heggen, C. M. et al. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet 135, 441–450, https://doi.org/10.1007/s00439-016-1648-8 (2016).

3. Saihan, Z., Webster, A. R., Luxon, L. & Bitner-Glindzicz, M. Update on Usher syndrome. Curr Opin Neurol 22, 19–27 (2009).

4. Van Camp, G & Smith, R. J. H. Hereditary Hearing Loss Homepage. http://webhost.ua.ac.be/hhh/ .

5. Kimberling, W. J. et al. Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genet Med 12, 512–516, https://doi.org/10.1097/GIM.0b013e3181e5afb8 (2010).

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