Wang QJ, Zhao YL, Rao SQ, Guo YF, He Y, Lan L, Yang WY, Zheng QY, Ruben RJ, Han DY, et al. Newborn hearing concurrent gene screening can improve care for hearing loss: a study on 14,913 Chinese newborns. Int J Pediatr Otorhinolaryngol. 2011;75(4):535–42.
Article
Google Scholar
Cynthia C, Morton PD, Walter E, Nance MD. Newborn hearing screening—a silent revolution. N Engl J Med. 2006;354:2151–64.
Article
Google Scholar
Yoshinaga-Itano C, Sedey AL, Coulter DK, Mehl AL. Language of early- and later-identified children with hearing loss. Pediatrics. 1998;102(5):1161–71.
Article
CAS
Google Scholar
Mason JA, Herrmann KR. Universal infant hearing screening by automated auditory brainstem response measurement. Pediatrics. 1998;101(2):221–8.
Article
CAS
Google Scholar
Shearer AE, Shen J, Amr S, Morton CC, Smith RJ. Newborn hearing screening working group of the national coordinating center for the regional genetics N: a proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children. Genet Med. 2019;21(11):2614–30.
Article
Google Scholar
Huang LH, Zhang L, Tobe RY, Qi FH, Sun L, Teng Y, Ke QL, Mai F, Zhang XF, Zhang M, et al. Cost-effectiveness analysis of neonatal hearing screening program in China: should universal screening be prioritized? BMC Health Serv Res. 2012;12:97.
Article
Google Scholar
Kennedy CR, McCann DC, Campbell MJ, Law CM, Mullee M, Petrou S, Watkin P, Worsfold S, Yuen HM, Stevenson J. Language ability after early detection of permanent childhood hearing impairment. N Engl J Med. 2006;354(20):2131–41.
Article
CAS
Google Scholar
Fowler KB, Dahle AJ, Boppana SB, Pass RF. Newborn hearing screening: will children with hearing loss caused by congenital cytomegalovirus infection be missed? J Pediatr. 1999;135(1):60–4.
Article
CAS
Google Scholar
Zhang J, Wang P, Han B, Ding Y, Pan L, Zou J, Liu H, Pang X, Liu E, Wang H, et al. Newborn hearing concurrent genetic screening for hearing impairment—a clinical practice in 58,397 neonates in Tianjin, China. Int J Pediatr Otorhinolaryngol. 2013;77(12):1929–35.
Article
Google Scholar
Kim BG, Shin JW, Park HJ, Kim JM, Kim UK, Choi JY. Limitations of hearing screening in newborns with PDS mutations. Int J Pediatr Otorhinolaryngol. 2013;77(5):833–7.
Article
Google Scholar
Mohd Khairi MD, Rafidah KN, Affizal A, Normastura AR, Suzana M, Normani ZM. Anxiety of the mothers with referred baby during universal newborn hearing screening. Int J Pediatr Otorhinolaryngol. 2011;75(4):513–7.
Article
Google Scholar
Kennedy CR. Controlled trial of universal neonatal screening for early identification of permanent childhood hearing impairment: coverage, positive predictive value, effect on mothers and incremental yield. Wessex Universal Neonatal Screening Trial Group. Acta Paediatr Suppl. 1999;88(432):73–5.
Article
CAS
Google Scholar
Howell RR. We must now put in place an updated, comprehensive newborn screening program for deaf and hard-of-hearing infants. Genet Med. 2019;21:2439–41.
Article
CAS
Google Scholar
Morton CC, Nance WE. Newborn hearing screening—a silent revolution. N Engl J Med. 2006;354(20):2151–64.
Article
CAS
Google Scholar
Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, et al. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016;135(4):441–50.
Article
CAS
Google Scholar
Dai P, Yu F, Han B, Liu X, Wang G, Li Q, Yuan Y, Liu X, Huang D, Kang D, et al. GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. J Transl Med. 2009;7:26.
Article
Google Scholar
Dai P, Liu X, Han D, Qian Y, Huang D, Yuan H, Li W, Yu F, Zhang R, Lin H, et al. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness. Biochem Biophys Res Commun. 2006;340(1):194–9.
Article
CAS
Google Scholar
Dai P, Huang LH, Wang GJ, Gao X, Qu CY, Chen XW, Ma FR, Zhang J, Xing WL, Xi SY, et al. Concurrent hearing and genetic screening of 180,469 neonates with follow-up in Beijing, China. Am J Hum Genet. 2019;105(4):803–12.
Article
CAS
Google Scholar
Wang Q, Xiang J, Sun J, Yang Y, Guan J, Wang D, Song C, Guo L, Wang H, Chen Y, et al. Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China. Genet Med. 2019;21(10):2231–8.
Article
Google Scholar
Guo L, Xiang J, Sun L, Yan X, Yang J, Wu H, Guo K, Peng J, Xie X, Yin Y, et al. Concurrent hearing and genetic screening in a general newborn population. Hum Genet. 2020;139(4):521–30.
Article
Google Scholar
Du W, Cheng J, Ding H, Jiang Z, Guo Y, Yuan H. A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss. Genomics. 2014;104(4):264–70.
Article
CAS
Google Scholar
Wang X, Hong Y, Cai P, Tang N, Chen Y, Yan T, Liu Y, Huang Q, Li Q. Rapid and reliable detection of nonsyndromic hearing loss mutations by multicolor melting curve analysis. Sci Rep. 2017;7:42894.
Article
CAS
Google Scholar
Li S, Peng Q, Liao S, Li W, Ma Q, Lu X. A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population. PLoS ONE. 2017;12(5):e0177196.
Article
Google Scholar
DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43(5):491–8.
Article
CAS
Google Scholar
Lu J, Li Z, Zhu Y, Yang A, Li R, Zheng J, Cai Q, Peng G, Zheng W, Tang X, et al. Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Mitochondrion. 2010;10(4):380–90.
Article
CAS
Google Scholar
Dai P, Yu F, Han B, Yuan Y, Li Q, Wang G, Liu X, He J, Huang D, Kang D, et al. The prevalence of the 235delC GJB2 mutation in a Chinese deaf population. Genet Med. 2007;9(5):283–9.
Article
CAS
Google Scholar
Yu H, Liu D, Yang J, Wu Z. Prevalence of mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes in 103 children with sensorineural hearing loss in Shaoxing, China. Ear Nose Throat J. 2018;97(6):E33-e38.
Article
Google Scholar
Liu Y, Hu C, Liu C, Liu D, Mei L, He C, Jiang L, Wu H, Chen H, Feng Y. A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss. PLoS ONE. 2019;14(4):e0215212.
Article
CAS
Google Scholar
Ouyang XM, Yan D, Yuan HJ, Pu D, Du LL, Han DY, Liu XZ. The genetic bases for non-syndromic hearing loss among Chinese. J Hum Genet. 2009;54(3):131–40.
Article
CAS
Google Scholar
Guan Q, Balciuniene J, Cao K, Fan Z, Biswas S, Wilkens A, Gallo DJ, Bedoukian E, Tarpinian J, Jayaraman P, et al. AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. Genet Med. 2018;20(12):1600–8.
Article
Google Scholar
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfoldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–43.
Article
CAS
Google Scholar
Huang S, Huang B, Wang G, Yuan Y, Dai P. The Relationship between the p.V37I mutation in GJB2 and hearing phenotypes in Chinese individuals. PLoS ONE. 2015;10(6):e0129662.
Article
Google Scholar
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, et al. Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen hearing loss expert panel. Genet Med. 2019;21(11):2442–52.
Article
Google Scholar
Wu CC, Tsai CH, Hung CC, Lin YH, Lin YH, Huang FL, Tsao PN, Su YN, Lee YL, Hsieh WS, et al. Newborn genetic screening for hearing impairment: a population-based longitudinal study. Genet Med. 2017;19(1):6–12.
Article
Google Scholar
Yuan Y, Li Q, Su Y, Lin Q, Gao X, Liu H, Huang S, Kang D, Todd NW, Mattox D, et al. Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls. Eur J Hum Genet. 2019;28:231–43.
Article
Google Scholar
Van Camp G, Smith RJ. Maternally inherited hearing impairment. Clin Genet. 2000;57(6):409–14.
Article
Google Scholar
Barbarino JM, McGregor TL, Altman RB, Klein TE. PharmGKB summary: very important pharmacogene information for MT-RNR1. Pharmacogenet Genomics. 2016;26(12):558–67.
Article
CAS
Google Scholar
Onda Y, Takahagi K, Shimizu M, Inoue K, Mochida K. Multiplex PCR targeted amplicon sequencing (MTA-Seq): simple, flexible, and versatile SNP genotyping by highly multiplexed PCR amplicon sequencing. Front Plant Sci. 2018;9:201.
Article
Google Scholar