Wilson BS, Tucci DL, Merson MH, O’Donoghue GM. Global hearing health care: new findings and perspectives. Lancet. 2017;390:2503–15.

PubMed  Article  Google Scholar 

Li CM, Zhang X, Hoffman HJ, Cotch MF, Themann CL, Wilson MR. Hearing impairment associated with depression in US adults, National Health and Nutrition Examination Survey 2005-2010. JAMA Otolaryngol Head Neck Surg. 2014;140:293–302.

PubMed  PubMed Central  Article  Google Scholar 

Contrera KJ, Betz J, Genther DJ, Lin FR. Association of hearing impairment and mortality in the national health and nutrition examination survey. JAMA Otolaryngol Head Neck Surg. 2015;141:944–6.

PubMed  PubMed Central  Google Scholar 

Stika CJ, Eisenberg LS, Johnson KC, Henning SC, Colson BG, Ganguly DH, et al. Developmental outcomes of early-identified children who are hard of hearing at 12 to 18 months of age. Early Hum Dev. 2015;91:47–55.

PubMed  Article  Google Scholar 

Cunningham LL, Tucci DL. Hearing loss in adults. N. Engl J Med. 2017;377:2465–73.

PubMed  PubMed Central  Article  Google Scholar 

Sheffield AM, Smith RJH. The Epidemiology of Deafness. Cold Spring Harb Perspect. 2019;9:a033258.

CAS  Article  Google Scholar 

Morton CC, Nance WE. Newborn hearing screening-a silent revolution. N. Engl J Med. 2006;354:2151–64.

CAS  PubMed  Article  Google Scholar 

Bademci G, Foster J 2nd, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, et al. Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive non-syndromic deafness in a large multiethnic cohort. Genet Med. 2016;18:364–71.

CAS  PubMed  Article  Google Scholar 

Yan D, Tekin D, Bademci G, Foster J 2nd, Cengiz FB, Kannan-Sundhari A, et al. Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. Hum Genet. 2016;135:953–61.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Li M, Nishio SY, Naruse C, Riddell M, Sapski S, Katsuno T, et al. Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome. Nat Commun. 2020;11:1343–57.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Schrauwen I, Chakchouk I, Acharya A, Liaqat K, Irfanullah. Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. BMC Med Genet. 2018;19:122–7.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Leone MP, Palumbo P, Ortore R, Castellana S, Palumbo O, Melchionda S, et al. Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing. Mol Cell Probes. 2017;33:24–7.

CAS  PubMed  Article  Google Scholar 

Ołdak M, Lechowicz U, Pollak A, Oziębło D, Skarżyński H. Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss. J Transl Med. 2019;17:269.

PubMed  PubMed Central  Article  Google Scholar 

Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, et al. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. J Med Genet. 2012;49:27–36.

PubMed  Article  CAS  Google Scholar 

Shearer AE, DeLuca AP, Hildebrand MS, Taylor KR, Gurrola J 2nd, Scherer S, et al. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci USA. 2010;107:21104–9.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Sloan-Heggen CM, Smith RJ. Navigating genetic diagnostics in patients with hearing loss. Curr Opin Pediatr. 2016;28:705–12.

PubMed  PubMed Central  Article  Google Scholar 

Shearer AE, Smith RJ. Massively parallel sequencing for genetic diagnosis of hearing loss: the new standard of care. Otolaryngol Head Neck Surg. 2015;153:175–82.

PubMed  PubMed Central  Article  Google Scholar 

Fang Y, Gu M, Wang C, Suo F, Wang G, Xia Y. GJB2 as well as SLC26A4 gene mutations are prominent causes for congenital deafness. Cell Biochem Biophys. 2015;73:41–4.

CAS  PubMed  Article  Google Scholar 

Xiang YB, Tang SH, Li HZ, Xu CY, Ch C, Xu YZ, et al. Mutation analysis of common deafness-causing genes among 506 patients with non-syndromic hearing loss from Wenzhou city, China. Int J Pediatr Otorhinolaryngol. 2019;122:185–90.

PubMed  Article  Google Scholar 

Yang T, Guo L, Wang L, Yu X. Diagnosis, intervention, and prevention of genetic hearing loss. Adv Exp Med Biol. 2019;1130:73–92.

PubMed  Article  Google Scholar 

Alford RL, Arnos KS, Fox M, Lin JW, Palmer CG, Pandya A, et al. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet Med. 2014;16:347–55.

PubMed  Article  Google Scholar 

Vila PM, Lieu JE. Asymmetric and unilateral hearing loss in children. Cell Tissue Res. 2015;361:271–8.

PubMed  PubMed Central  Article  Google Scholar 

Lin PH, Hu CJ, Lin YH, Lee HY, Wu CC, et al. Etiologic and audiologic characteristics of patients with pediatric-onset unilateral and asymmetric sensorineural hearing loss. JAMA Otolaryngol Head Neck Surg. 2017;143:912–9.

PubMed  PubMed Central  Article  Google Scholar 

Barona R, Vizcaino JA, Krstulovic C, Barona L, Comeche C, Montalt J, et al. Does asymmetric hearing loss affect the ability to understand in noisy environments? J Int Adv Otol. 2019;15:267–71.

PubMed  PubMed Central  Article  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.

PubMed  PubMed Central  Article  Google Scholar 

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, et al. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018;39:1593–1613.

PubMed  PubMed Central  Article  Google Scholar 

Danial-Farran N, Brownstein Z, Gulsuner S, Tammer L, Khayat M, Aleme O, et al. Genetics of hearing loss in the Arab population of Northern Israel. Eur J Hum Genet. 2018;26:1840–7.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Gaildrat P, Killian A, Martins A, Tournier I, Frébourg T, Tosi M. Use of Splicing Reporter Minigene Assay to Evaluate the Effect on Splicing of Unclassified Genetic Variants. Methods Mol Biol. 2010;653:249–57.

CAS  PubMed  Article  Google Scholar 

Chen S, Dong C, Wang Q, Zhong Z, Qi Y, Ke X, et al. Targeted next-generation sequencing successfully detects causative genes in Chinese patients with hereditary hearing loss. Genet Test Mol Biomark. 2016;20:660–5.

CAS  Article  Google Scholar 

Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, et al. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016;135:441–50.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Sennaroglu L, Bajin MD. Classification and current management of inner ear malformations. Balk Med J 2017;34:397–411.

Article  Google Scholar 

Ocak E, Duman D, Tekin M. Genetic causes of inner ear anomalies: a review from the Turkish study group for inner ear anomalies. Balk Med J. 2019;36:206–11.

CAS  Article  Google Scholar 

Kari E, Llaci L, Go JL, Naymik M, Knowles JA, Leal SM, et al. Genes implicated in rare congenital inner ear and cochleovestibular nerve malformations. Ear Hear. 2020;41:983–9.

PubMed  PubMed Central  Article  Google Scholar 

Seligman KL, Shearer AE, Frees K, Nishimura C, Kolbe D, Dunn C, et al. Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients. Otolaryngol Head Neck Surg. 2022;166:734–7.

PubMed  Article  Google Scholar 

Abu Rayyan A, Kamal L, Casadei S, Brownstein Z, Zahdeh F, Shahin H, et al. Genomic analysis of inherited hearing loss in the Palestinian population. Proc Natl Acad Sci USA. 2020;117:20070–6.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Budde BS, Aly MA, Mohamed MR, Breß A, Altmüller J, Motameny S, et al. Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Clin Genet. 2020;98:32–42.

CAS  PubMed  Article  Google Scholar 

Han JJ, Nguyen PD, Oh DY, Han JH, Kim AR, Kim MY, et al. Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population. Sci Rep. 2019;9:1604–22.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Safka Brozkova D, Poisson Marková S, Mészárosová AU, Jenčík J, Čejnová V, Čada Z, et al. Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing. Clin Genet. 2020;98:548–54.

CAS  PubMed  Article  Google Scholar