{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T03:56:22Z","timestamp":1790394982719,"version":"4.1.0"},"reference-count":110,"publisher":"Springer Science and Business Media LLC","issue":"3-4","license":[{"start":{"date-parts":[[2021,7,25]],"date-time":"2021-07-25T00:00:00Z","timestamp":1627171200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,7,25]],"date-time":"2021-07-25T00:00:00Z","timestamp":1627171200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100010221","name":"Higher Education Commision, Pakistan","doi-asserted-by":"publisher","award":["3288"],"award-info":[{"award-number":["3288"]}],"id":[{"id":"10.13039\/501100010221","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2022,4]]},"DOI":"10.1007\/s00439-021-02320-0","type":"journal-article","created":{"date-parts":[[2021,7,25]],"date-time":"2021-07-25T18:02:31Z","timestamp":1627236151000},"page":"633-648","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Molecular genetic landscape of hereditary hearing loss in Pakistan"],"prefix":"10.1007","volume":"141","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1912-0235","authenticated-orcid":false,"given":"Sadaf","family":"Naz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,7,25]]},"reference":[{"key":"2320_CR1","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1002\/mgg3.227","volume":"4","author":"O Abdelhadi","year":"2016","unstructured":"Abdelhadi O, Iancu D, Tekman M, Stanescu H, Bockenhauer D, Kleta R (2016) Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome. Mol Genet Genomic Med 4:521\u2013526. https:\/\/doi.org\/10.1002\/mgg3.227","journal-title":"Mol Genet Genomic Med"},{"key":"2320_CR2","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1034\/j.1399-0004.2003.00109.x","volume":"63","author":"ZM Ahmed","year":"2003","unstructured":"Ahmed ZM, Riazuddin S, Wilcox ER (2003) The molecular genetics of Usher syndrome. Clin Genet 63:431\u2013444. https:\/\/doi.org\/10.1034\/j.1399-0004.2003.00109.x","journal-title":"Clin Genet"},{"key":"2320_CR3","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1186\/1471-2350-5-24","volume":"5","author":"ZM Ahmed","year":"2004","unstructured":"Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Friedman TB, Morell RJ, Wilcox ER (2004) Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. BMC Med Genet 5:24. https:\/\/doi.org\/10.1186\/1471-2350-5-24","journal-title":"BMC Med Genet"},{"key":"2320_CR4","first-page":"234","volume":"30","author":"S Ahmed","year":"2018","unstructured":"Ahmed S, Sheraz S, Malik SA, Ahmed NR, Farooq S, Raheem A, Basheer F, Nayyar ZA (2018) Frequency of congenital hearing loss in neonates. J Ayub Med Coll Abbottabad 30:234\u2013236","journal-title":"J Ayub Med Coll Abbottabad"},{"key":"2320_CR5","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1186\/s12886-021-01957-9","volume":"21","author":"AN Ahmed","year":"2021","unstructured":"Ahmed AN, Tahir R, Khan N, Ahmad M, Dawood M, Basit A, Yasin M, Nowshid M, Marwan M, Sultan K, Saleha S (2021) USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families. BMC Ophthalmol 21:191. https:\/\/doi.org\/10.1186\/s12886-021-01957-9","journal-title":"BMC Ophthalmol"},{"key":"2320_CR6","first-page":"33","volume":"22","author":"B Akram","year":"2014","unstructured":"Akram B, Bashir R (2014) Special education and deaf children in Pakistan: an overview. J Element Educ 22:33\u201344","journal-title":"J Element Educ"},{"key":"2320_CR7","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1111\/cge.12700","volume":"90","author":"RH Ali","year":"2016","unstructured":"Ali RH, Shah K, Nasir A, Steyaert W, Coucke PJ, Ahmad W (2016) Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. Clin Genet 90:263\u2013269. https:\/\/doi.org\/10.1111\/cge.12700","journal-title":"Clin Genet"},{"key":"2320_CR8","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1002\/acn3.51247","volume":"8","author":"RA Alkhater","year":"2021","unstructured":"Alkhater RA, Ahonen S, Minassian BA (2021) SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder - deafness syndrome. Ann Clin Transl Neurol 8:252\u2013258. https:\/\/doi.org\/10.1002\/acn3.51247","journal-title":"Ann Clin Transl Neurol"},{"key":"2320_CR9","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1002\/ajmg.a.30884","volume":"137A","author":"A Alvarez","year":"2005","unstructured":"Alvarez A, del Castillo I, Villamar M, Aguirre LA, Gonzalez-Neira A, Lopez-Nevot A, Moreno-Pelayo MA, Moreno F (2005) High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss. Am J Med Genet A 137A:255\u2013258. https:\/\/doi.org\/10.1002\/ajmg.a.30884","journal-title":"Am J Med Genet A"},{"key":"2320_CR10","first-page":"126","volume":"12","author":"S Anjum","year":"2014","unstructured":"Anjum S, Azhar A, Tariq M, Baig SM, Bolz HJ, Qayyum M, Naqvi MS, Raja GK (2014) GJB2 gene mutations causing hearing loss in consanguineous Pakistani families. Pak J Life Soc Sci 12:126\u2013131","journal-title":"Pak J Life Soc Sci"},{"key":"2320_CR11","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1038\/jhg.2009.21","volume":"54","author":"S Anwar","year":"2009","unstructured":"Anwar S, Riazuddin S, Ahmed ZM, Tasneem S, Ateeq ul J, Khan SY, Griffith AJ, Friedman TB (2009) SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred\u2019s syndrome in Pakistanis. J Hum Genet 54:266\u2013270. https:\/\/doi.org\/10.1038\/jhg.2009.21","journal-title":"J Hum Genet"},{"key":"2320_CR12","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0142154","volume":"10","author":"T Atik","year":"2015","unstructured":"Atik T, Onay H, Aykut A, Bademci G, Kirazli T, Tekin M, Ozkinay F (2015) Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss. PLoS ONE 10:e0142154. https:\/\/doi.org\/10.1371\/journal.pone.0142154","journal-title":"PLoS ONE"},{"key":"2320_CR13","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/nn.2694","volume":"14","author":"SM Baig","year":"2011","unstructured":"Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, N\u00fcrnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N, Engel J, Mangoni ME, Farooq M, Khan HU, N\u00fcrnberg P, Striessnig J, Bolz HJ (2011) Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci 14:77\u201384. https:\/\/doi.org\/10.1038\/nn.2694","journal-title":"Nat Neurosci"},{"key":"2320_CR14","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1038\/jhg.2010.104","volume":"55","author":"R Bashir","year":"2010","unstructured":"Bashir R, Fatima A, Naz S (2010) Mutations in CLDN14 are associated with different hearing thresholds. J Hum Genet 55:767\u2013770. https:\/\/doi.org\/10.1038\/jhg.2010.104","journal-title":"J Hum Genet"},{"key":"2320_CR15","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1007\/s10528-013-9568-y","volume":"51","author":"R Bashir","year":"2013","unstructured":"Bashir R, Imtiaz A, Fatima A, Alam A, Naz S (2013a) The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan. Biochem Genet 51:350\u2013357. https:\/\/doi.org\/10.1007\/s10528-013-9568-y","journal-title":"Biochem Genet"},{"key":"2320_CR16","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1038\/jhg.2012.143","volume":"58","author":"ZE Bashir","year":"2013","unstructured":"Bashir ZE, Latief N, Belyantseva IA, Iqbal F, Riazuddin SA, Khan SN, Friedman TB, Riazuddin S (2013b) Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. J Hum Genet 58:102\u2013108. https:\/\/doi.org\/10.1038\/jhg.2012.143","journal-title":"J Hum Genet"},{"key":"2320_CR17","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1007\/s00405-015-3671-0","volume":"273","author":"S Battelino","year":"2016","unstructured":"Battelino S, Klancar G, Kovac J, Battelino T, Trebusak Podkrajsek K (2016) TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss. Eur Arch Otorhinolaryngol 273:1151\u20131154. https:\/\/doi.org\/10.1007\/s00405-015-3671-0","journal-title":"Eur Arch Otorhinolaryngol"},{"key":"2320_CR18","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1089\/gtmb.2009.0174","volume":"14","author":"M Ben Sa\u00efd","year":"2010","unstructured":"Ben Sa\u00efd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S (2010) High frequency of the p. R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects. Genet Test Mol Biomarkers 14:307\u2013311. https:\/\/doi.org\/10.1089\/gtmb.2009.0174","journal-title":"Genet Test Mol Biomarkers"},{"key":"2320_CR19","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026617","volume":"42","author":"J Bond","year":"2005","unstructured":"Bond J, Flintoff K, Higgins J, Scott S, Bennet C, Parsons J, Mannon J, Jafri H, Rashid Y, Barrow M, Trembath R, Woodruff G, Rossa E, Lynch S, Sheilds J, Newbury-Ecob R, Falconer A, Holland P, Cockburn D, Karbani G, Malik S, Ahmed M, Roberts E, Taylor G, Woods CG (2005) The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. J Med Genet 42:e10. https:\/\/doi.org\/10.1136\/jmg.2004.026617","journal-title":"J Med Genet"},{"key":"2320_CR20","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1086\/316954","volume":"68","author":"JM Bork","year":"2001","unstructured":"Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ (2001) Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet 68:26\u201337. https:\/\/doi.org\/10.1086\/316954","journal-title":"Am J Hum Genet"},{"key":"2320_CR21","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1093\/hmg\/5.1.169","volume":"5","author":"KA Brown","year":"1996","unstructured":"Brown KA, Janjua AH, Karbani G, Parry G, Noble A, Crockford G, Bishop DT, Newton VE, Markham AF, Mueller RF (1996) Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. Hum Mol Genet 5:169\u2013173. https:\/\/doi.org\/10.1093\/hmg\/5.1.169","journal-title":"Hum Mol Genet"},{"key":"2320_CR22","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1007\/s10528-013-9583-z","volume":"51","author":"I Bukhari","year":"2013","unstructured":"Bukhari I, Mujtaba G, Naz S (2013) Contribution of GJB2 mutations to hearing loss in the Hazara Division of Pakistan. Biochem Genet 51:524\u2013529. https:\/\/doi.org\/10.1007\/s10528-013-9583-z","journal-title":"Biochem Genet"},{"key":"2320_CR23","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1007\/s10545-015-9894-9","volume":"39","author":"R Carrozzo","year":"2016","unstructured":"Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E (2016) Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. J Inherit Metab Dis 39:243\u2013252. https:\/\/doi.org\/10.1007\/s10545-015-9894-9","journal-title":"J Inherit Metab Dis"},{"key":"2320_CR24","doi-asserted-by":"publisher","first-page":"660","DOI":"10.1089\/gtmb.2016.0051","volume":"20","author":"S Chen","year":"2016","unstructured":"Chen S, Dong C, Wang Q, Zhong Z, Qi Y, Ke X, Liu Y (2016) Targeted next-generation sequencing successfully detects causative genes in Chinese patients with hereditary hearing loss. Genet Test Mol Biomarkers 20:660\u2013665. https:\/\/doi.org\/10.1089\/gtmb.2016.0051","journal-title":"Genet Test Mol Biomarkers"},{"key":"2320_CR110","doi-asserted-by":"publisher","unstructured":"Chiereghin C, Robusto M, Mauri L, Primignani P, Castorina P, Ambrosetti U, Duga S, Asselta R, Sold\u00e0 G (2021) SLC22A4 gene in hereditary non-syndromic hearing loss: recurrence and incomplete penetrance of the p.C113Y mutation in Northwest Africa. Front Genet 12:606630. https:\/\/doi.org\/10.3389\/fgene.2021.606630","DOI":"10.3389\/fgene.2021.606630"},{"key":"2320_CR25","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1111\/j.1399-0004.2008.01128.x","volume":"75","author":"BY Choi","year":"2009","unstructured":"Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, Griffith AJ, Friedman TB (2009) Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Clin Genet 75:237\u2013243. https:\/\/doi.org\/10.1111\/j.1399-0004.2008.01128.x","journal-title":"Clin Genet"},{"key":"2320_CR26","doi-asserted-by":"publisher","DOI":"10.1017\/CBO9781139020633","volume-title":"The archaeology of South Asia: from the Indus to Asoka, ca. 6500 BCE-200 CE","author":"R Coningham","year":"2015","unstructured":"Coningham R, Young R (2015) The archaeology of South Asia: from the Indus to Asoka, ca. 6500 BCE-200 CE. Cambridge University Press, UK"},{"key":"2320_CR27","doi-asserted-by":"publisher","first-page":"1105","DOI":"10.1093\/hmg\/7.7.1105","volume":"7","author":"B Coyle","year":"1998","unstructured":"Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC (1998) Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet 7:1105\u20131112. https:\/\/doi.org\/10.1093\/hmg\/7.7.1105","journal-title":"Hum Mol Genet"},{"key":"2320_CR28","doi-asserted-by":"publisher","first-page":"846","DOI":"10.1111\/dmcn.12171","volume":"55","author":"JH Cross","year":"2013","unstructured":"Cross JH, Arora R, Heckemann RA, Gunny R, Chong K, Carr L, Baldeweg T, Differ AM, Lench N, Varadkar S, Sirimanna T, Wassmer E, Hulton SA, Ognjanovic M, Ramesh V, Feather S, Kleta R, Hammers A, Bockenhauer D (2013) Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. Dev Med Child Neurol 55:846\u2013856. https:\/\/doi.org\/10.1111\/dmcn.12171","journal-title":"Dev Med Child Neurol"},{"key":"2320_CR29","doi-asserted-by":"publisher","DOI":"10.3390\/genes11111329","author":"J Doll","year":"2020","unstructured":"Doll J, Vona B, Schnapp L, R\u00fcschendorf F, Khan I, Khan S, Muhammad N, Alam Khan S, Nawaz H, Khan A, Ahmad N, Kolb SM, K\u00fchlewein L, Labonne JDJ, Layman LC, Hofrichter MAH, R\u00f6der T, Dittrich M, M\u00fcller T, Graves TD, Kong IK, Nanda I, Kim HG, Haaf T (2020) Genetic spectrum of syndromic and non-syndromic hearing loss in Pakistani families. Genes (basel). https:\/\/doi.org\/10.3390\/genes11111329","journal-title":"Genes (basel)"},{"key":"2320_CR30","first-page":"348","volume":"27","author":"MM Elahi","year":"1998","unstructured":"Elahi MM, Elahi F, Elahi A, Elahi SB (1998) Paediatric hearing loss in rural Pakistan. J Otolaryngol 27:348\u2013353","journal-title":"J Otolaryngol"},{"key":"2320_CR31","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1111\/cge.12867","volume":"91","author":"R Faridi","year":"2017","unstructured":"Faridi R, Rehman AU, Morell RJ, Friedman PL, Demain L, Zahra S, Khan AA, Tohlob D, Assir MZ, Beaman G, Khan SN, Newman WG, Riazuddin S, Friedman TB (2017) Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome. Clin Genet 91:328\u2013332. https:\/\/doi.org\/10.1111\/cge.12867","journal-title":"Clin Genet"},{"key":"2320_CR32","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1002\/humu.23689","volume":"40","author":"R Faridi","year":"2019","unstructured":"Faridi R, Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, Assir MZK, Bandesha AA, Khan AA, Rehman AU, Brewer C, Ahmed W, Leal SM, Riazuddin S, Boyden SE, Friedman TB (2019) Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. Hum Mutat 40:162\u2013176. https:\/\/doi.org\/10.1002\/humu.23689","journal-title":"Hum Mutat"},{"key":"2320_CR109","doi-asserted-by":"crossref","unstructured":"Faridi R, Rea A, Fenollar-Ferrer C, O\u2019Keefe RT, Gu S, Munir Z, Khan AA, Riazuddin S, Hoa M, Naz S, Newman WG, Friedman TB (2021) New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder. Hum Genet (accepted)","DOI":"10.1007\/s00439-021-02319-7"},{"key":"2320_CR33","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1016\/j.ajhg.2010.02.006","volume":"86","author":"P Green","year":"2010","unstructured":"Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ (2010) Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet 86:485\u2013489. https:\/\/doi.org\/10.1016\/j.ajhg.2010.02.006","journal-title":"Am J Hum Genet"},{"key":"2320_CR34","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1017\/s0021932098002612","volume":"30","author":"R Hussain","year":"1998","unstructured":"Hussain R, Bittles AH (1998) The prevalence and demographic characteristics of consanguineous marriages in Pakistan. J Biosoc Sci 30:261\u2013275. https:\/\/doi.org\/10.1017\/s0021932098002612","journal-title":"J Biosoc Sci"},{"key":"2320_CR35","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1007\/s10048-016-0477-1","volume":"17","author":"A Imtiaz","year":"2016","unstructured":"Imtiaz A, Maqsood A, Rehman AU, Morell RJ, Holt JR, Friedman TB, Naz S (2016) Recessive mutations of TMC1 associated with moderate to severe hearing loss. Neurogenetics 17:115\u2013123. https:\/\/doi.org\/10.1007\/s10048-016-0477-1","journal-title":"Neurogenetics"},{"key":"2320_CR36","doi-asserted-by":"publisher","first-page":"780","DOI":"10.1093\/hmg\/ddx440","volume":"27","author":"A Imtiaz","year":"2018","unstructured":"Imtiaz A, Belyantseva IA, Beirl AJ, Fenollar-Ferrer C, Bashir R, Bukhari I, Bouzid A, Shaukat U, Azaiez H, Booth KT, Kahrizi K, Najmabadi H, Maqsood A, Wilson EA, Fitzgerald TS, Tlili A, Olszewski R, Lund M, Chaudhry T, Rehman AU, Starost MF, Waryah AM, Hoa M, Dong L, Morell RJ, Smith RJH, Riazuddin S, Masmoudi S, Kindt KS, Naz S, Friedman TB (2018) CDC14A phosphatase is essential for hearing and male fertility in mouse and human. Hum Mol Genet 27:780\u2013798. https:\/\/doi.org\/10.1093\/hmg\/ddx440","journal-title":"Hum Mol Genet"},{"key":"2320_CR37","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/304612","volume":"2011","author":"H Iqbal","year":"2011","unstructured":"Iqbal H, Sarfaraz T, Anjum F, Anwar Z, Mir A (2011) Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysis. J Biomed Biotechnol 2011:304612. https:\/\/doi.org\/10.1155\/2011\/304612","journal-title":"J Biomed Biotechnol"},{"key":"2320_CR38","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1007\/s11033-011-0799-x","volume":"39","author":"R Jabeen","year":"2012","unstructured":"Jabeen R, Babar ME, Ahmad J, Awan AR (2012) Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome. Mol Biol Rep 39:785\u2013788. https:\/\/doi.org\/10.1007\/s11033-011-0799-x","journal-title":"Mol Biol Rep"},{"key":"2320_CR39","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1016\/j.ajhg.2013.02.013","volume":"92","author":"EM Jenkinson","year":"2013","unstructured":"Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT, Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG (2013) Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet 92:605\u2013613. https:\/\/doi.org\/10.1016\/j.ajhg.2013.02.013","journal-title":"Am J Hum Genet"},{"key":"2320_CR40","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1038\/387080a0","volume":"387","author":"DP Kelsell","year":"1997","unstructured":"Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387:80\u201383. https:\/\/doi.org\/10.1038\/387080a0","journal-title":"Nature"},{"key":"2320_CR41","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.917","volume":"7","author":"A Khan","year":"2019","unstructured":"Khan A, Han S, Wang R, Ansar M, Ahmad W, Zhang X (2019) Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort. Mol Genet Genomic Med 7:e917. https:\/\/doi.org\/10.1002\/mgg3.917","journal-title":"Mol Genet Genomic Med"},{"key":"2320_CR42","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1038\/ng842","volume":"30","author":"K Kurima","year":"2002","unstructured":"Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ (2002) Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet 30:277\u2013284. https:\/\/doi.org\/10.1038\/ng842","journal-title":"Nat Genet"},{"key":"2320_CR43","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1111\/j.1399-0004.2011.01695.x","volume":"82","author":"K Lee","year":"2012","unstructured":"Lee K, Khan S, Islam A, Ansar M, Andrade PB, Kim S, Santos-Cortez RL, Ahmad W, Leal SM (2012) Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet 82:56\u201363. https:\/\/doi.org\/10.1111\/j.1399-0004.2011.01695.x","journal-title":"Clin Genet"},{"key":"2320_CR44","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1038\/s10038-018-0542-8","volume":"64","author":"K Liaqat","year":"2019","unstructured":"Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K, Bamshad MJ, Nickerson DA, Ahmad W, Leal SM (2019) Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance. J Hum Genet 64:153\u2013160. https:\/\/doi.org\/10.1038\/s10038-018-0542-8","journal-title":"J Hum Genet"},{"key":"2320_CR45","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0124232","volume":"10","author":"I Ma\u0161indov\u00e1","year":"2015","unstructured":"Ma\u0161indov\u00e1 I, \u0160olt\u00fdsov\u00e1 A, Varga L, M\u00e1ty\u00e1s P, Ficek A, Hu\u010dkov\u00e1 M, S\u016frov\u00e1 M, \u0160afka-Bro\u017ekov\u00e1 D, Anwar S, Bene J, Straka S, Janicsek I, Ahmed ZM, Seeman P, Melegh B, Profant M, Klime\u0161 I, Riazuddin S, K\u00e1dasi \u013d, Ga\u0161per\u00edkov\u00e1 D (2015) MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population\u2014prevalence, clinical impact and the common origin. PLoS ONE 10:e0124232. https:\/\/doi.org\/10.1371\/journal.pone.0124232","journal-title":"PLoS ONE"},{"key":"2320_CR46","doi-asserted-by":"publisher","unstructured":"Mei X, Zhou Y, Amjad M, Yang W, Zhu R, Asif M, Hussain HMJ, Yang T, Iqbal F, Hu H (2021) Next-generation sequencing identifies pathogenic variants in HGF, POU3F4, TECTA, and MYO7A in consanguineous Pakistani deaf families. Neural Plast 2021:5528434. https:\/\/doi.org\/10.1155\/2021\/5528434","DOI":"10.1155\/2021\/5528434"},{"key":"2320_CR47","doi-asserted-by":"publisher","first-page":"1266","DOI":"10.1001\/jama.2018.13152","volume":"320","author":"J Mersch","year":"2018","unstructured":"Mersch J, Brown N, Pirzadeh-Miller S, Mundt E, Cox HC, Brown K, Aston M, Esterling L, Manley S, Ross T (2018) Prevalence of variant reclassification following hereditary cancer genetic testing. JAMA 320:1266\u20131274. https:\/\/doi.org\/10.1001\/jama.2018.13152","journal-title":"JAMA"},{"key":"2320_CR48","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/j.gde.2018.09.003","volume":"53","author":"M Metspalu","year":"2018","unstructured":"Metspalu M, Mondal M, Chaubey G (2018) The genetic makings of South Asia. Curr Opin Genet Dev 53:128\u2013133. https:\/\/doi.org\/10.1016\/j.gde.2018.09.003","journal-title":"Curr Opin Genet Dev"},{"key":"2320_CR49","doi-asserted-by":"publisher","first-page":"171","DOI":"10.32677\/IJCR.2017.v03.i04.001","volume":"3","author":"C Monz\u00f3","year":"2017","unstructured":"Monz\u00f3 C, Gimeno- Ferrer F, Garc\u00eda JCF, Amadoz A, Albuquerque D, Angueira FB, Marcaida G, Rodr\u00edguez- L\u00f3pez R (2017) Alstr\u00f6m syndrome caused by deletion in ALMS1 gene fixed in a Northern Pakistan recurrent haplotype. Indian J Case Rep 3:171\u2013174","journal-title":"Indian J Case Rep"},{"key":"2320_CR50","doi-asserted-by":"publisher","first-page":"2976","DOI":"10.1523\/JNEUROSCI.2278-19.2020","volume":"40","author":"RJ Morell","year":"2020","unstructured":"Morell RJ, Olszewski R, Tona R, Leitess S, Wafa TT, Taukulis I, Schultz JM, Thomason EJ, Richards K, Whitley BN, Hill C, Saunders T, Starost MF, Fitzgerald T, Wilson E, Ohyama T, Friedman TB, Hoa M (2020) Noncoding microdeletion in mouse Hgf disrupts neural crest migration into the stria vascularis, reduces the endocochlear potential, and suggests the neuropathology for human nonsyndromic deafness DFNB39. J Neurosci 40:2976\u20132992. https:\/\/doi.org\/10.1523\/JNEUROSCI.2278-19.2020","journal-title":"J Neurosci"},{"key":"2320_CR51","doi-asserted-by":"publisher","first-page":"1674","DOI":"10.12669\/pjms.35.6.703","volume":"35","author":"N Mumtaz","year":"2019","unstructured":"Mumtaz N, Babur MN, Saqulain G (2019) Multi-level barriers & priorities accorded by policy makers for neonatal hearing screening (NHS) in Pakistan: a thematic analysis. Pak J Med Sci 35:1674\u20131679. https:\/\/doi.org\/10.12669\/pjms.35.6.703","journal-title":"Pak J Med Sci"},{"key":"2320_CR52","doi-asserted-by":"publisher","DOI":"10.1126\/science.aat7487","author":"VM Narasimhan","year":"2019","unstructured":"Narasimhan VM, Patterson N, Moorjani P, Rohland N, Bernardos R, Mallick S et al (2019) The formation of human populations in South and Central Asia. Science. https:\/\/doi.org\/10.1126\/science.aat7487","journal-title":"Science"},{"key":"2320_CR53","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1007\/s00439-015-1532-y","volume":"134","author":"G Nayak","year":"2015","unstructured":"Nayak G, Varga L, Trincot C, Shahzad M, Friedman PL, Klimes I, Greinwald JH Jr, Riazuddin SA, Masindova I, Profant M, Khan SN, Friedman TB, Ahmed ZM, Gasperikova D, Riazuddin S (2015) Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss. Hum Genet 134:423\u2013437. https:\/\/doi.org\/10.1007\/s00439-015-1532-y","journal-title":"Hum Genet"},{"key":"2320_CR54","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1136\/jmg.40.5.360","volume":"40","author":"S Naz","year":"2003","unstructured":"Naz S, Alasti F, Mowjoodi A, Riazuddin S, Sanati MH, Friedman TB, Griffith AJ, Wilcox ER (2003) Distinctive audiometric profile associated with DFNB21 alleles of TECTA. J Med Genet 40:360\u2013363. https:\/\/doi.org\/10.1136\/jmg.40.5.360","journal-title":"J Med Genet"},{"key":"2320_CR55","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1111\/cge.12856","volume":"91","author":"S Naz","year":"2017","unstructured":"Naz S, Imtiaz A, Mujtaba G, Maqsood A, Bashir R, Bukhari I, Khan MR, Ramzan M, Fatima A, Rehman AU, Iqbal M, Chaudhry T, Lund M, Brewer CC, Morell RJ, Friedman TB (2017) Genetic causes of moderate to severe hearing loss point to modifiers. Clin Genet 91:589\u2013598. https:\/\/doi.org\/10.1111\/cge.12856","journal-title":"Clin Genet"},{"key":"2320_CR56","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1002\/mgg3.312","volume":"5","author":"C Neuhaus","year":"2017","unstructured":"Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Muller-Hofstede C, Charbel Issa P, Heller R, Beck B, Ruther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, Huhle D, Elsayed SM, Taha HM, Baig SM, Stohr H, Preising M, Markus S, Moeller F, Lorenz B, Nagel-Wolfrum K, Khan AO, Bolz HJ (2017) Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. Mol Genet Genomic Med 5:531\u2013552. https:\/\/doi.org\/10.1002\/mgg3.312","journal-title":"Mol Genet Genomic Med"},{"key":"2320_CR57","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1136\/jmedgenet-2016-103910","volume":"53","author":"YS Ng","year":"2016","unstructured":"Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Hou\u0161t\u011bk J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochv\u00edlov\u00e1 H, Santra S, Brown RM, Brown GK, Ragge N, Monavari A, Pysden K, Ravn K, Casey JP, Khan A, Chakrapani A, Vassallo G, Simons C, McKeever K, O\u2019Sullivan S, Childs AM, \u00d8stergaard E, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R (2016) The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. J Med Genet 53:768\u2013775. https:\/\/doi.org\/10.1136\/jmedgenet-2016-103910","journal-title":"J Med Genet"},{"key":"2320_CR58","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1111\/cge.12645","volume":"89","author":"K Nikopoulos","year":"2016","unstructured":"Nikopoulos K, Butt GU, Farinelli P, Mudassar M, Domenech-Estevez E, Samara C, Kausar M, Masroor I, Chrast R, Rivolta C, Siddiqi S (2016) A large multiexonic genomic deletion within the ALMS1 gene causes Alstrom syndrome in a consanguineous Pakistani family. Clin Genet 89:510\u2013511. https:\/\/doi.org\/10.1111\/cge.12645","journal-title":"Clin Genet"},{"key":"2320_CR59","doi-asserted-by":"publisher","DOI":"10.3390\/genes10121031","author":"M Noman","year":"2019","unstructured":"Noman M, Ishaq R, Bukhari SA, Ahmed ZM, Riazuddin S (2019) Delineation of homozygous variants associated with prelingual sensorineural hearing loss in Pakistani families. Genes (basel). https:\/\/doi.org\/10.3390\/genes10121031","journal-title":"Genes (basel)"},{"key":"2320_CR60","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1111\/j.1399-5448.2007.00251.x","volume":"8","author":"BS Olsen","year":"2007","unstructured":"Olsen BS, Hahnemann JM, Schwartz M, \u00d8stergaard E (2007) Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood. Pediatr Diabetes 8:239\u2013241. https:\/\/doi.org\/10.1111\/j.1399-5448.2007.00251.x","journal-title":"Pediatr Diabetes"},{"key":"2320_CR61","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1111\/coa.12567","volume":"41","author":"AM Oonk","year":"2016","unstructured":"Oonk AM, Huygen PL, Kunst HP, Kremer H, Pennings RJ (2016) Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference. Clin Otolaryngol 41:487\u2013497. https:\/\/doi.org\/10.1111\/coa.12567","journal-title":"Clin Otolaryngol"},{"key":"2320_CR62","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1136\/jmg.40.4.242","volume":"40","author":"HJ Park","year":"2003","unstructured":"Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Griffith AJ (2003) Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 40:242\u2013248. https:\/\/doi.org\/10.1136\/jmg.40.4.242","journal-title":"J Med Genet"},{"key":"2320_CR63","doi-asserted-by":"publisher","first-page":"9979","DOI":"10.1007\/s11033-020-06037-7","volume":"47","author":"HR Park","year":"2020","unstructured":"Park HR, Kanwal S, Lim SO, Nam DE, Choi YJ, Chung KW (2020) Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss. Mol Biol Rep 47:9979\u20139985. https:\/\/doi.org\/10.1007\/s11033-020-06037-7","journal-title":"Mol Biol Rep"},{"key":"2320_CR64","doi-asserted-by":"publisher","first-page":"11902","DOI":"10.1038\/s41598-020-68779-5","volume":"10","author":"M Ramzan","year":"2020","unstructured":"Ramzan M, Bashir R, Salman M, Mujtaba G, Sobreira N, Witmer PD, Naz S (2020) Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan. Sci Rep 10:11902. https:\/\/doi.org\/10.1038\/s41598-020-68779-5","journal-title":"Sci Rep"},{"key":"2320_CR65","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1002\/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO;2-9","volume":"16","author":"T Raz","year":"2000","unstructured":"Raz T, Labay V, Baron D, Szargel R, Anbinder Y, Barrett T, Rabl W, Viana MB, Mandel H, Baruchel A, Cayuela JM, Cohen N (2000) The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families. Hum Mutat 16:37\u201342. https:\/\/doi.org\/10.1002\/1098-1004(200007)16:1%3c37::AID-HUMU7%3e3.0.CO;2-9","journal-title":"Hum Mutat"},{"key":"2320_CR66","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1016\/j.ajhg.2010.01.030","volume":"86","author":"AU Rehman","year":"2010","unstructured":"Rehman AU, Morell RJ, Belyantseva IA, Khan SY, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Friedman TB (2010) Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet 86:378\u2013388. https:\/\/doi.org\/10.1016\/j.ajhg.2010.01.030","journal-title":"Am J Hum Genet"},{"key":"2320_CR67","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1016\/j.ajhg.2013.12.004","volume":"94","author":"AU Rehman","year":"2014","unstructured":"Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Leal SM, Friedman TB (2014) Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet 94:144\u2013152. https:\/\/doi.org\/10.1016\/j.ajhg.2013.12.004","journal-title":"Am J Hum Genet"},{"key":"2320_CR68","doi-asserted-by":"publisher","first-page":"1207","DOI":"10.1038\/ejhg.2014.266","volume":"23","author":"AU Rehman","year":"2015","unstructured":"Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, Shearer AE, Smith RJ, Shendure J, Bamshad MJ, Nickerson DA, Hinnant J, Khan SN, Fisher RA, Ahmad W, Friderici KH, Friedman TB, Wilch ES, Leal SM (2015) Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet 23:1207\u20131215. https:\/\/doi.org\/10.1038\/ejhg.2014.266","journal-title":"Eur J Hum Genet"},{"key":"2320_CR69","doi-asserted-by":"publisher","first-page":"1040","DOI":"10.1086\/510022","volume":"79","author":"S Riazuddin","year":"2006","unstructured":"Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva IA, Forge A, Friedman TB (2006) Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet 79:1040\u20131051. https:\/\/doi.org\/10.1086\/510022","journal-title":"Am J Hum Genet"},{"key":"2320_CR70","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1002\/humu.20677","volume":"29","author":"S Riazuddin","year":"2008","unstructured":"Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, Friedman TB (2008) Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat 29:502\u2013511. https:\/\/doi.org\/10.1002\/humu.20677","journal-title":"Hum Mutat"},{"key":"2320_CR71","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1016\/j.ajhg.2009.07.003","volume":"85","author":"S Riazuddin","year":"2009","unstructured":"Riazuddin S, Anwar S, Fischer M, Ahmed ZM, Khan SY, Janssen AG, Zafar AU, Scholl U, Husnain T, Belyantseva IA, Friedman PL, Friedman TB, Fahlke C (2009) Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. Am J Hum Genet 85:273\u2013280. https:\/\/doi.org\/10.1016\/j.ajhg.2009.07.003","journal-title":"Am J Hum Genet"},{"key":"2320_CR72","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1186\/1471-2350-12-21","volume":"12","author":"S Riazuddin","year":"2011","unstructured":"Riazuddin S, Ahmed ZM, Hegde RS, Khan SN, Nasir I, Shaukat U, Butman JA, Griffith AJ, Friedman TB, Choi BY (2011) Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome. BMC Med Genet 12:21. https:\/\/doi.org\/10.1186\/1471-2350-12-21","journal-title":"BMC Med Genet"},{"key":"2320_CR73","doi-asserted-by":"publisher","first-page":"1265","DOI":"10.1038\/ng.2426","volume":"44","author":"S Riazuddin","year":"2012","unstructured":"Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM (2012) Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet 44:1265\u20131271. https:\/\/doi.org\/10.1038\/ng.2426","journal-title":"Nat Genet"},{"key":"2320_CR74","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1002\/humu.23666","volume":"40","author":"EM Richard","year":"2019","unstructured":"Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA, Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM (2019) Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Hum Mutat 40:53\u201372. https:\/\/doi.org\/10.1002\/humu.23666","journal-title":"Hum Mutat"},{"key":"2320_CR75","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1136\/jmg.38.8.530","volume":"38","author":"S Rickard","year":"2001","unstructured":"Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz M (2001) Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J Med Genet 38:530\u2013533. https:\/\/doi.org\/10.1136\/jmg.38.8.530","journal-title":"J Med Genet"},{"key":"2320_CR76","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1007\/s00439-003-0944-2","volume":"113","author":"CR Rothrock","year":"2003","unstructured":"Rothrock CR, Murgia A, Sartorato EL, Leonardi E, Wei S, Lebeis SL, Yu LE, Elfenbein JL, Fisher RA, Friderici KH (2003) Connexin 26 35delG does not represent a mutational hotspot. Hum Genet 113:18\u201323. https:\/\/doi.org\/10.1007\/s00439-003-0944-2","journal-title":"Hum Genet"},{"key":"2320_CR77","doi-asserted-by":"publisher","first-page":"4063","DOI":"10.1167\/iovs.10-6869","volume":"52","author":"AF Roux","year":"2011","unstructured":"Roux AF, Faugere V, Vache C, Baux D, Besnard T, Leonard S, Blanchet C, Hamel C, Mondain M, Gilbert-Dussardier B, Edery P, Lacombe D, Bonneau D, Holder-Espinasse M, Ambrosetti U, Journel H, David A, Lina-Granade G, Malcolm S, Claustres M (2011) Four-year follow-up of diagnostic service in USH1 patients. Invest Ophthalmol vis Sci 52:4063\u20134071. https:\/\/doi.org\/10.1167\/iovs.10-6869","journal-title":"Invest Ophthalmol vis Sci"},{"key":"2320_CR78","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1111\/j.1399-0004.2011.01817.x","volume":"82","author":"D Safka Brozkova","year":"2012","unstructured":"Safka Brozkova D, Lastuvkova J, Stepankova H, Krutova M, Trkova M, Myska P, Seeman P (2012) DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population. Clin Genet 82:579\u2013582. https:\/\/doi.org\/10.1111\/j.1399-0004.2011.01817.x","journal-title":"Clin Genet"},{"key":"2320_CR79","doi-asserted-by":"publisher","first-page":"2071","DOI":"10.1007\/s00405-015-3523-y","volume":"272","author":"M Salman","year":"2015","unstructured":"Salman M, Bashir R, Imtiaz A, Maqsood A, Mujtaba G, Iqbal M, Naz S (2015) Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan. Eur Arch Otorhinolaryngol 272:2071\u20132075. https:\/\/doi.org\/10.1007\/s00405-015-3523-y","journal-title":"Eur Arch Otorhinolaryngol"},{"key":"2320_CR80","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1111\/j.1399-0004.2005.00379.x","volume":"67","author":"RL Santos","year":"2005","unstructured":"Santos RL, Wajid M, Pham TL, Hussan J, Ali G, Ahmad W, Leal SM (2005) Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet 67:61\u201368. https:\/\/doi.org\/10.1111\/j.1399-0004.2005.00379.x","journal-title":"Clin Genet"},{"key":"2320_CR81","doi-asserted-by":"publisher","first-page":"636","DOI":"10.1016\/j.ajhg.2012.08.018","volume":"91","author":"I Schrauwen","year":"2012","unstructured":"Schrauwen I, Helfmann S, Inagaki A, Predoehl F, Tabatabaiefar MA, Picher MM, Sommen M, Zazo Seco C, Oostrik J, Kremer H, Dheedene A, Claes C, Fransen E, Chaleshtori MH, Coucke P, Lee A, Moser T, Van Camp G (2012) A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. Am J Hum Genet 91:636\u2013645. https:\/\/doi.org\/10.1016\/j.ajhg.2012.08.018","journal-title":"Am J Hum Genet"},{"key":"2320_CR82","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1186\/s12881-018-0618-5","volume":"19","author":"I Schrauwen","year":"2018","unstructured":"Schrauwen I, Chakchouk I, Acharya A, Liaqat K, DA Irfanullah N, Bamshad MJ, Shah K, Ahmad W, Leal SM (2018) Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. BMC Med Genet 19:122. https:\/\/doi.org\/10.1186\/s12881-018-0618-5","journal-title":"BMC Med Genet"},{"key":"2320_CR83","doi-asserted-by":"publisher","DOI":"10.3390\/genes11060687","author":"I Schrauwen","year":"2020","unstructured":"Schrauwen I, Liaqat K, Schatteman I, Bharadwaj T, Nasir A, Acharya A, Ahmad W, Van Camp G, Leal SM (2020) Autosomal dominantly inherited GREB1L variants in individuals with profound sensorineural hearing impairment. Genes (basel). https:\/\/doi.org\/10.3390\/genes11060687","journal-title":"Genes (basel)"},{"key":"2320_CR84","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.ajhg.2009.06.003","volume":"85","author":"JM Schultz","year":"2009","unstructured":"Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Vel\u00e1squez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Friedman TB, Morell RJ (2009) Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. Am J Hum Genet 85:25\u201339. https:\/\/doi.org\/10.1016\/j.ajhg.2009.06.003","journal-title":"Am J Hum Genet"},{"key":"2320_CR85","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1136\/jmedgenet-2011-100262","volume":"48","author":"JM Schultz","year":"2011","unstructured":"Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Friedman TB (2011) Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. J Med Genet 48:767\u2013775. https:\/\/doi.org\/10.1136\/jmedgenet-2011-100262","journal-title":"J Med Genet"},{"key":"2320_CR86","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1038\/83768","volume":"27","author":"HS Scott","year":"2001","unstructured":"Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B, Antonarakis SE (2001) Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet 27:59\u201363. https:\/\/doi.org\/10.1038\/83768","journal-title":"Nat Genet"},{"key":"2320_CR87","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1038\/ejhg.2015.157","volume":"24","author":"CZ Seco","year":"2016","unstructured":"Seco CZ, Giese AP, Shafique S, Schraders M, Oonk AM, Grossheim M, Oostrik J, Strom T, Hegde R, van Wijk E, Frolenkov GI, Azam M, Yntema HG, Free RH, Riazuddin S, Verheij JB, Admiraal RJ, Qamar R, Ahmed ZM, Kremer H (2016) Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. Eur J Hum Genet 24:542\u2013549. https:\/\/doi.org\/10.1038\/ejhg.2015.157","journal-title":"Eur J Hum Genet"},{"key":"2320_CR88","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0100146","volume":"9","author":"S Shafique","year":"2014","unstructured":"Shafique S, Siddiqi S, Schraders M, Oostrik J, Ayub H, Bilal A, Ajmal M, Seco CZ, Strom TM, Mansoor A, Mazhar K, Shah ST, Hussain A, Azam M, Kremer H, Qamar R (2014) Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. PLoS ONE 9:e100146. https:\/\/doi.org\/10.1371\/journal.pone.0100146","journal-title":"PLoS ONE"},{"key":"2320_CR89","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1007\/s10528-017-9828-3","volume":"55","author":"H Shaikh","year":"2017","unstructured":"Shaikh H, Waryah AM, Narsani AK, Iqbal M, Shahzad M, Waryah YM, Shaikh N, Mahmood A (2017) genetic testing of non-familial deaf patients for CIB2 and GJB2 mutations: phenotype and genetic counselling. Biochem Genet 55:410\u2013420. https:\/\/doi.org\/10.1007\/s10528-017-9828-3","journal-title":"Biochem Genet"},{"key":"2320_CR90","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1186\/s12862-017-0936-9","volume":"17","author":"M Silva","year":"2017","unstructured":"Silva M, Oliveira M, Vieira D, Brandao A, Rito T, Pereira JB, Fraser RM, Hudson B, Gandini F, Edwards C, Pala M, Koch J, Wilson JF, Pereira L, Richards MB, Soares P (2017) A genetic chronology for the Indian Subcontinent points to heavily sex-biased dispersals. BMC Evol Biol 17:88. https:\/\/doi.org\/10.1186\/s12862-017-0936-9","journal-title":"BMC Evol Biol"},{"key":"2320_CR91","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1136\/jmedgenet-2015-103389","volume":"52","author":"CM Sloan-Heggen","year":"2015","unstructured":"Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H (2015) Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. J Med Genet 52:823\u2013829. https:\/\/doi.org\/10.1136\/jmedgenet-2015-103389","journal-title":"J Med Genet"},{"key":"2320_CR92","first-page":"53","volume":"5","author":"H Tariq","year":"2019","unstructured":"Tariq H, Zaigham K (2019) Genetic contribution of GJB2 gene and DFNB2 locus to hearing impairment in Kashmiri and Pakistani families. Biomed Lett 5:53\u201366","journal-title":"Biomed Lett"},{"key":"2320_CR93","doi-asserted-by":"publisher","DOI":"10.3390\/genes11101122","author":"R Tona","year":"2020","unstructured":"Tona R, Lopez IA, Fenollar-Ferrer C, Faridi R, Anselmi C, Khan AA, Shahzad M, Morell RJ, Gu S, Hoa M, Dong L, Ishiyama A, Belyantseva IA, Riazuddin S, Friedman TB (2020) Mouse models of human pathogenic variants of TBC1D24 associated with non-syndromic deafness DFNB86 and DFNA65 and syndromes involving deafness. Genes (basel). https:\/\/doi.org\/10.3390\/genes11101122","journal-title":"Genes (basel)"},{"key":"2320_CR94","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/j.puhe.2016.12.019","volume":"145","author":"S Ullah","year":"2017","unstructured":"Ullah S, Aslamkhan M, Ali A, Idrees M (2017) Causes of deafness in the Punjab region of Pakistan and the role of consanguinity. Public Health 145:93\u201395. https:\/\/doi.org\/10.1016\/j.puhe.2016.12.019","journal-title":"Public Health"},{"key":"2320_CR95","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.1007\/s12041-017-0868-6","volume":"96","author":"M Umair","year":"2017","unstructured":"Umair M, Seidel H, Ahmed I, Ullah A, Haack TB, Alhaddad B, Jan A, Rafique A, Strom TM, Ahmad F, Meitinger T, Ahmad W (2017) Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC\/EVC2 and TMC1 genes. J Genet 96:1005\u20131014. https:\/\/doi.org\/10.1007\/s12041-017-0868-6","journal-title":"J Genet"},{"key":"2320_CR96","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1136\/jmg.2005.038612","volume":"43","author":"R Varga","year":"2006","unstructured":"Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, Smith RJ, Kimberling WJ (2006) OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. J Med Genet 43:576\u2013581. https:\/\/doi.org\/10.1136\/jmg.2005.038612","journal-title":"J Med Genet"},{"key":"2320_CR97","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1093\/hmg\/5.1.165","volume":"5","author":"A Veske","year":"1996","unstructured":"Veske A, Oehlmann R, Younus F, Mohyuddin A, M\u00fcller-Myhsok B, Mehdi SQ, Gal A (1996) Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum Mol Genet 5:165\u2013168. https:\/\/doi.org\/10.1093\/hmg\/5.1.165","journal-title":"Hum Mol Genet"},{"key":"2320_CR98","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1089\/gtmb.2016.0328","volume":"21","author":"R Wang","year":"2017","unstructured":"Wang R, Han S, Khan A, Zhang X (2017) Molecular analysis of twelve Pakistani families with nonsyndromic or syndromic hearing loss. Genet Test Mol Biomarkers 21:316\u2013321. https:\/\/doi.org\/10.1089\/gtmb.2016.0328","journal-title":"Genet Test Mol Biomarkers"},{"key":"2320_CR99","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1038\/jhg.2011.55","volume":"56","author":"AM Waryah","year":"2011","unstructured":"Waryah AM, Ahmed ZM, Bhinder MA, Choo DI, Sisk RA, Shahzad M, Khan SN, Friedman TB, Riazuddin S (2011) Molecular and clinical studies of X-linked deafness among Pakistani families. J Hum Genet 56:534\u2013540. https:\/\/doi.org\/10.1038\/jhg.2011.55","journal-title":"J Hum Genet"},{"key":"2320_CR100","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1007\/s00109-001-0310-6","volume":"80","author":"M Wattenhofer","year":"2002","unstructured":"Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D\u2019Amelio M, Alwan S, Rossier C, Dahl HH, Petersen MB, Estivill X, Gasparini P, Scott HS, Antonarakis SE (2002) Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. J Mol Med (berl) 80:124\u2013131. https:\/\/doi.org\/10.1007\/s00109-001-0310-6","journal-title":"J Mol Med (berl)"},{"key":"2320_CR101","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1007\/s10162-011-0282-3","volume":"12","author":"NJ Weegerink","year":"2011","unstructured":"Weegerink NJ, Schraders M, Oostrik J, Huygen PL, Strom TM, Granneman S, Pennings RJ, Venselaar H, Hoefsloot LH, Elting M, Cremers CW, Admiraal RJ, Kremer H, Kunst HP (2011) Genotype-phenotype correlation in DFNB8\/10 families with TMPRSS3 mutations. J Assoc Res Otolaryngol 12:753\u2013766. https:\/\/doi.org\/10.1007\/s10162-011-0282-3","journal-title":"J Assoc Res Otolaryngol"},{"key":"2320_CR102","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1016\/j.spen.2017.03.001","volume":"26","author":"IR Woodcock","year":"2018","unstructured":"Woodcock IR, Menezes MP, Coleman L, Yaplito-Lee J, Peters H, White SM, Stapleton R, Phelan DG, Chong B, Lunke S, Stark Z, Pitt J, Ryan MM, Robertson C, Yiu EM (2018) Genetic, radiologic, and clinical variability in Brown-Vialetto-van Laere Syndrome. Semin Pediatr Neurol 26:2\u20139. https:\/\/doi.org\/10.1016\/j.spen.2017.03.001","journal-title":"Semin Pediatr Neurol"},{"key":"2320_CR103","doi-asserted-by":"publisher","first-page":"798","DOI":"10.1136\/adc.2010.209262","volume":"96","author":"SY Yoong","year":"2011","unstructured":"Yoong SY, Mavrogiannis LA, Wright J, Fairley L, Bennett CP, Charlton RS, Spencer N (2011) Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss. Arch Dis Child 96:798\u2013803. https:\/\/doi.org\/10.1136\/adc.2010.209262","journal-title":"Arch Dis Child"},{"key":"2320_CR104","doi-asserted-by":"publisher","first-page":"1509","DOI":"10.1172\/jci97350","volume":"128","author":"R Yousaf","year":"2018","unstructured":"Yousaf R, Ahmed ZM, Giese AP, Morell RJ, Lagziel A, Dabdoub A, Wilcox ER, Riazuddin S, Friedman TB (2018) Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. J Clin Invest 128:1509\u20131522. https:\/\/doi.org\/10.1172\/jci97350","journal-title":"J Clin Invest"},{"key":"2320_CR105","doi-asserted-by":"publisher","DOI":"10.3390\/genes11090978","author":"S Zafar","year":"2020","unstructured":"Zafar S, Shahzad M, Ishaq R, Yousaf A, Shaikh RS, Akram J, Ahmed ZM, Riazuddin S (2020) Novel mutations in CLPP, LARS2, CDH23, and COL4A5 identified in familial cases of prelingual hearing loss. Genes (basel). https:\/\/doi.org\/10.3390\/genes11090978","journal-title":"Genes (basel)"},{"key":"2320_CR106","first-page":"281","volume":"7","author":"K Zaigham","year":"2020","unstructured":"Zaigham K, Tariq H, Qaiser TA, Maqsood SB, Khan AA (2020) Evaluation of a recurrent mutation in HGF gene responsible for non-syndromic hereditary deafness in Kashmiri population. Adv Life Sci 7:281\u2013286","journal-title":"Adv Life Sci"},{"key":"2320_CR107","doi-asserted-by":"publisher","first-page":"2588","DOI":"10.1093\/hmg\/dds084","volume":"21","author":"QY Zheng","year":"2012","unstructured":"Zheng QY, Scarborough JD, Zheng Y, Yu H, Choi D, Gillespie PG (2012) Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes. Hum Mol Genet 21:2588\u20132598. https:\/\/doi.org\/10.1093\/hmg\/dds084","journal-title":"Hum Mol Genet"},{"key":"2320_CR108","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1186\/s12881-020-01087-x","volume":"21","author":"Y Zhou","year":"2020","unstructured":"Zhou Y, Tariq M, He S, Abdullah U, Zhang J, Baig SM (2020) Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families. BMC Med Genet 21:151. https:\/\/doi.org\/10.1186\/s12881-020-01087-x","journal-title":"BMC Med Genet"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-021-02320-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-021-02320-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-021-02320-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,23]],"date-time":"2022-04-23T07:03:49Z","timestamp":1650697429000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-021-02320-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,25]]},"references-count":110,"journal-issue":{"issue":"3-4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["2320"],"URL":"https:\/\/doi.org\/10.1007\/s00439-021-02320-0","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,25]]},"assertion":[{"value":"30 April 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 July 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 July 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"None.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Not applicable.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}