References
- Smith RJ, Bale JF Jr, White KR. Sensorineural hearing loss in children. Lancet. 2005;365:879–890.
- Resendes BL, Williamson RE, Morton CC. At the speed of sound: gene discovery in the auditory system. Am J Hum Genet. 2001;69:923–935.
- Hilgert N, Smith RJ, Camp GV. Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med. 2009;9:546–564.
- Lin X, Tang W, Ahmad S. Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hear Res. 2012;288:67–76.
- Tang W, Qian D, Ahmad S, et al. A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach. Genet Test Mol Biomarkers. 2012;16:536–542.
- Shearer AE, Smith RJ. Massively parallel sequencing for genetic diagnosis of hearing loss: the new standard of care. Otolaryngol Head Neck Surg. 2015;153:175–182.
- Jiang Y, Huang S, Deng T, et al. Mutation spectrum of common deafness-causing genes in patients with non-syndromic deafness in the Xiamen Area, China. PLoS One. 2015;10:e0135088.
- Lin Q, Mu P, Liu K, et al. Mutation of genes associated with hearing loss levels in the southern Fujian area of China. Int J Clin Exp Med. 2017;10:13361–13370.
- Wu L, Li R, Ye Q, et al. Genetic mutations of hotspots in patients with nonsyndromic deafness in Fujian, China. Int J Clin Exp Pathol. 2017;10:7067–7074.
- Du W, Wang Q, Zhu Y, et al. Associations between GJB2, mitochondrial 12S rRNA, SLC26A4 mutations, and hearing loss among three ethnicities. Biomed Res Int. 2014;2014:1.
- Li H, Durbin R. Short read alignment with Burrows–Wheeler transform. Bioinformatics 2009;25:1754–1760.
- Hao Z, Fu D, Ming Y, et al. Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China. PLoS One. 2018;13:e0195740.
- Lü J, Huang Z, Yang T, et al. Screening for delayed-onset hearing loss in preschool children who previously passed the newborn hearing screening. Int J Pediatr Otorhinolaryngol. 2011;75:1045–1049.
- Huang S, Huang B, Wang G, et al. The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals. PLoS One. 2015;10:e0129662.
- Xing G, Chen Z, Wei Q, et al. Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity. Biochem Biophys Res Commun. 2006;346:1131–1135.
- Cirçir Y, Incesulu A, Tekin M. [Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing loss]. Kulak Burun Bogaz Ihtis Derg. 2007;17:75–80.
- Dai P, Yu F, Han B, et al. GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment. J Transl Med. 2009;7:26.
- Vona B, Hofrichter M, Neuner C, et al. DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. Clin Genet. 2015;87:49–55.
- Mandelker D, Amr SS, Pugh T, et al. Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology. J Mol Diagn. 2014;16:639–647.
- Ameur A, Kloosterman WP, Hestand MS. Single-molecule sequencing: towards clinical applications. Trends Biotechnol. 2018.