Application of Next-Generation Sequencing to Hearing Loss
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Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-319-56418-0_5
Reference35 articles.
1. Atik, T., Bademci, G., Diaz-Horta, O., et al.: Whole-exome sequencing and its impact in hereditary hearing loss. Genet. Res. 97, e4 (2015). doi: 10.1017/S001667231500004X
2. Azaiez, H., Booth, K.T., Bu, F., et al.: TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum. Mutat. 35, 819–823 (2014). doi: 10.1002/humu.22557
3. Bamshad, M.J., Ng, S.B., Bigham, A.W., et al.: Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12, 745–755 (2011). doi: 10.1038/nrg3031
4. Behlouli, A., Bonnet, C., Abdi, S., et al.: EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness. Orphanet J. Rare Dis. 9, 55 (2014). doi: 10.1186/1750-1172-9-55
5. Bonnet, C., Grati, M., Marlin, S., et al.: Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J. Rare Dis. 6, 21 (2011). doi: 10.1186/1750-1172-6-21
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