Morton CC, Nance WE: Newborn hearing screening–a silent revolution. N Engl J Med. 2006, 354: 2151-2164. 10.1056/NEJMra050700.
Article
CAS
PubMed
Google Scholar
Teer JK, Mullikin JC: Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet. 2010, 19: R145-151. 10.1093/hmg/ddq333.
Article
CAS
PubMed
PubMed Central
Google Scholar
Diaz-Horta O, Duman D, Foster J, Sirmaci A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I: Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One. 2012, 7: e50628-10.1371/journal.pone.0050628.
Article
CAS
PubMed
PubMed Central
Google Scholar
Delmaghani S, Aghaie A, Michalski N, Bonnet C, Weil D, Petit C: Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. Hum Mol Genet. 2012, 21: 3835-3844. 10.1093/hmg/dds212.
Article
CAS
PubMed
Google Scholar
Li Y, Pohl E, Boulouiz R, Schraders M, Nurnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M: Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet. 2010, 86: 479-484. 10.1016/j.ajhg.2010.02.003.
Article
CAS
PubMed
PubMed Central
Google Scholar
Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M: Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet. 2010, 87: 90-94. 10.1016/j.ajhg.2010.05.010.
Article
CAS
PubMed
PubMed Central
Google Scholar
Zheng J, Miller KK, Yang T, Hildebrand MS, Shearer AE, DeLuca AP, Scheetz TE, Drummond J, Scherer SE, Legan PK: Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4). Proc Natl Acad Sci USA. 2011, 108: 4218-4223. 10.1073/pnas.1005842108.
Article
PubMed
PubMed Central
Google Scholar
Schraders M, Haas SA, Weegerink NJ, Oostrik J, Hu H, Hoefsloot LH, Kannan S, Huygen PL, Pennings RJ, Admiraal RJ: Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet. 2011, 88: 628-634. 10.1016/j.ajhg.2011.04.012.
Article
CAS
PubMed
PubMed Central
Google Scholar
Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC: Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet. 2010, 87: 282-288. 10.1016/j.ajhg.2010.07.007.
Article
CAS
PubMed
PubMed Central
Google Scholar
Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC: Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci USA. 2011, 108: 6543-6548. 10.1073/pnas.1103471108.
Article
CAS
PubMed
PubMed Central
Google Scholar
Sirmaci A, Walsh T, Akay H, Spiliopoulos M, Sakalar YB, Hasanefendioglu-Bayrak A, Duman D, Farooq A, King MC, Tekin M: MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet. 2010, 87: 679-686. 10.1016/j.ajhg.2010.09.018.
Article
CAS
PubMed
PubMed Central
Google Scholar
Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC: Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet. 2011, 43: 595-600. 10.1038/ng.830.
Article
CAS
PubMed
PubMed Central
Google Scholar
van den Berg H, van der Gaag M, Hendriks H: Influence of lifestyle on vitamin bioavailability. Int J Vitam Nutr Res. 2002, 72: 53-59. 10.1024/0300-9831.72.1.53.
Article
CAS
PubMed
Google Scholar
Sierksma A, van der Gaag MS, Kluft C, Hendriks HF: Effect of moderate alcohol consumption on fibrinogen levels in healthy volunteers is discordant with effects on C-reactive protein. Ann N Y Acad Sci. 2001, 936: 630-633.
Article
CAS
PubMed
Google Scholar
Belyantseva IA, Boger ET, Friedman TB: Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. Proc Natl Acad Sci USA. 2003, 100: 13958-13963. 10.1073/pnas.2334417100.
Article
CAS
PubMed
PubMed Central
Google Scholar
Beyer LA, Odeh H, Probst FJ, Lambert EH, Dolan DF, Camper SA, Kohrman DC, Raphael Y: Hair cells in the inner ear of the pirouette and shaker 2 mutant mice. J Neurocytol. 2000, 29: 227-240. 10.1023/A:1026515619443.
Article
CAS
PubMed
Google Scholar
Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB: Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science. 1998, 280: 1447-1451. 10.1126/science.280.5368.1447.
Article
CAS
PubMed
Google Scholar
Gao X, Su Y, Guan LP, Yuan YY, Huang SS, Lu Y, Wang GJ, Han MY, Yu F, Song YS: Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family. PLoS One. 2013, 8: e63026-10.1371/journal.pone.0063026.
Article
CAS
PubMed
PubMed Central
Google Scholar
Sirmaci A, Duman D, Ozturkmen-Akay H, Erbek S, Incesulu A, Ozturk-Hismi B, Arici ZS, Yuksel-Konuk EB, Tasir-Yilmaz S, Tokgoz-Yilmaz S: Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. Int J Pediatr Otorhinolaryngol. 2009, 73: 699-705. 10.1016/j.ijporl.2009.01.005.
Article
PubMed
Google Scholar
Garcia-Alvarez B, de Pereda JM, Calderwood DA, Ulmer TS, Critchley D, Campbell ID, Ginsberg MH, Liddington RC: Structural determinants of integrin recognition by talin. Mol Cell. 2003, 11: 49-58. 10.1016/S1097-2765(02)00823-7.
Article
CAS
PubMed
Google Scholar
Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, Erdol H, Kayserili H, Hafiz G, Baserer N: MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A. 2007, 143A: 2382-2389. 10.1002/ajmg.a.31937.
Article
CAS
PubMed
Google Scholar
Friedman TB, Sellers JR, Avraham KB: Unconventional myosins and the genetics of hearing loss. Am J Med Genet. 1999, 89: 147-157. 10.1002/(SICI)1096-8628(19990924)89:3<147::AID-AJMG5>3.0.CO;2-6.
Article
CAS
PubMed
Google Scholar
Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Liang Y, Menon PS, Smith T, Smith AC: Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet. 2001, 109: 535-541. 10.1007/s004390100604.
Article
CAS
PubMed
Google Scholar
Lezirovitz K, Pardono E, de Mello Auricchio MT, de Carvalho ESFL, Lopes JJ, Abreu-Silva RS, Romanos J, Batissoco AC, Mingroni-Netto RC: Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness. Eur J Hum Genet. 2008, 16: 89-96. 10.1038/sj.ejhg.5201917.
Article
CAS
PubMed
Google Scholar
Belguith H, Aifa-Hmani M, Dhouib H, Said MB, Mosrati MA, Lahmar I, Moalla J, Charfeddine I, Driss N, Arab SB: Screening of the DFNB3 locus: identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus. Genet Test Mol Biomarkers. 2009, 13: 147-151. 10.1089/gtmb.2008.0077.
Article
CAS
PubMed
Google Scholar
Shearer AE, Hildebrand MS, Webster JA, Kahrizi K, Meyer NC, Jalalvand K, Arzhanginy S, Kimberling WJ, Stephan D, Bahlo M: Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. Laryngoscope. 2009, 119: 727-733. 10.1002/lary.20116.
Article
CAS
PubMed
PubMed Central
Google Scholar
Cengiz FB, Duman D, Sirmaci A, Tokgoz-Yilmaz S, Erbek S, Ozturkmen-Akay H, Incesulu A, Edwards YJ, Ozdag H, Liu XZ, Tekin M: Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. Genet Test Mol Biomarkers. 2010, 14: 543-550. 10.1089/gtmb.2010.0039.
Article
CAS
PubMed
Google Scholar
Chishti AH, Kim AC, Marfatia SM, Lutchman M, Hanspal M, Jindal H, Liu SC, Low PS, Rouleau GA, Mohandas N: The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci. 1998, 23: 281-282. 10.1016/S0968-0004(98)01237-7.
Article
CAS
PubMed
Google Scholar
Krawczak M, Reiss J, Cooper DN: The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet. 1992, 90: 41-54.
Article
CAS
PubMed
Google Scholar