-
1
-
-
84973471115
-
-
Hereditary Hearing Loss Homepage. Updated May 19, 2014. Accessed December 12, 2014
-
Hereditary Hearing Loss Homepage. http://hereditaryhearingloss.org/. Updated May 19, 2014. Accessed December 12, 2014.
-
-
-
-
2
-
-
24044500344
-
Myosins: Tails (and heads) of functional diversity
-
Krendel M, Mooseker MS,. Myosins: tails (and heads) of functional diversity. Physiology. 2005; 20: 239-251.
-
(2005)
Physiology
, vol.20
, pp. 239-251
-
-
Krendel, M.1
Mooseker, M.S.2
-
3
-
-
84902770819
-
Novel mutation of MYO15A associated with hearing loss in a Japanese family
-
Yano T, Ichinose A, Nishio S, Kobayashi Y, Sato H, Usami S,. Novel mutation of MYO15A associated with hearing loss in a Japanese family. J Clin Case Rep. 2013; 3: 319.
-
(2013)
J Clin Case Rep
, vol.3
, pp. 319
-
-
Yano, T.1
Ichinose, A.2
Nishio, S.3
Kobayashi, Y.4
Sato, H.5
Usami, S.6
-
4
-
-
84871009580
-
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
-
Diaz-Horta O, Duman D, Foster J II, et al. Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One. 2012; 7 (11): e50628.
-
(2012)
PLoS One
, vol.7
, Issue.11
, pp. e50628
-
-
Diaz-Horta, O.1
Duman, D.2
Foster, I.I.J.3
-
5
-
-
84864151320
-
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population
-
Fattahi Z, Shearer AE, Babanejad M, et al. Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. Am J Med Genet A. 2012; 158A (8): 1857-1864.
-
(2012)
Am J Med Genet A
, vol.158
, Issue.8
, pp. 1857-1864
-
-
Fattahi, Z.1
Shearer, A.E.2
Babanejad, M.3
-
6
-
-
84880184179
-
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
-
Woo HM, Park HJ, Baek JI, et al. Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families. BMC Med Genet. 2013; 14: 72.
-
(2013)
BMC Med Genet
, vol.14
, pp. 72
-
-
Woo, H.M.1
Park, H.J.2
Baek, J.I.3
-
7
-
-
84878895417
-
Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing
-
Yang T, Wei X, Chai Y, Li L, Wu H,. Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. Orphanet J Rare Dis. 2013; 14; 8: 85.
-
(2013)
Orphanet J Rare Dis
, vol.14
, Issue.8
, pp. 85
-
-
Yang, T.1
Wei, X.2
Chai, Y.3
Li, L.4
Wu, H.5
-
8
-
-
84885156841
-
Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS
-
Miyagawa M, Nishio SY, Ikeda T, Fukushima K, Usami S,. Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS. PLoS One. 2013; 8: e75793.
-
(2013)
PLoS One
, vol.8
, pp. e75793
-
-
Miyagawa, M.1
Nishio, S.Y.2
Ikeda, T.3
Fukushima, K.4
Usami, S.5
-
9
-
-
84864294140
-
ANNOVAR; Annotating genetic variants for personal genomes via the web
-
Chang X, Wang K,. ANNOVAR; annotating genetic variants for personal genomes via the web. J Med Genet. 2012; 49: 433-436.
-
(2012)
J Med Genet
, vol.49
, pp. 433-436
-
-
Chang, X.1
Wang, K.2
-
10
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variation from high-throughput sequencing data
-
Wang K, Li M, Hakonarson H,. ANNOVAR: functional annotation of genetic variation from high-throughput sequencing data. Nucleic Acid Res. 2010; 38: e164.
-
(2010)
Nucleic Acid Res
, vol.38
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
11
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012; 491 (7422): 56-65.
-
(2012)
Nature
, vol.491
, Issue.7422
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
-
12
-
-
84973446897
-
-
NHLBI Exome Sequencing Project (ESP) Exome Variant Server. Accessed February 10, 2015
-
NHLBI Exome Sequencing Project (ESP) Exome Variant Server. http://evs.gs.washington.edu/EVS/. Accessed February 10, 2015.
-
-
-
-
13
-
-
84903538948
-
Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants
-
Narahara M, Higasa K, Nakamura S, et al. Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants. PLoS One. 2014; 9 (6): e100924.
-
(2014)
PLoS One
, vol.9
, Issue.6
, pp. e100924
-
-
Narahara, M.1
Higasa, K.2
Nakamura, S.3
-
14
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC,. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009; 4 (7): 1073-1081.
-
(2009)
Nat Protoc
, vol.4
, Issue.7
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
15
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7 (4): 248-249.
-
(2010)
Nat Methods
, vol.7
, Issue.4
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
16
-
-
77955151784
-
MutationTaster evaluates disease-causing potential of sequence alterations
-
Schwarz JM, Rodelsperger C, Schuelke M, et al. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010; 7 (8): 575-576.
-
(2010)
Nat Methods
, vol.7
, Issue.8
, pp. 575-576
-
-
Schwarz, J.M.1
Rodelsperger, C.2
Schuelke, M.3
-
17
-
-
80053189298
-
Predicting the functional impact of protein mutations: Application to cancer genomics
-
Reva B, Antipin Y, Sander C,. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res. 2011; 39 (17): e118.
-
(2011)
Nucleic Acids Res
, vol.39
, Issue.17
, pp. e118
-
-
Reva, B.1
Antipin, Y.2
Sander, C.3
-
18
-
-
84871578629
-
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
-
Shihab HA, Gough J, Cooper DN, et al. Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum Mutat. 2013; 34 (1): 57-65.
-
(2013)
Hum Mutat
, vol.34
, Issue.1
, pp. 57-65
-
-
Shihab, H.A.1
Gough, J.2
Cooper, D.N.3
-
19
-
-
22244452677
-
Distribution and intensity of constraint in mammalian genomic sequence
-
Cooper GM, Stone EA, Asimenos G, et al. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 2005; 15 (7): 901-913.
-
(2005)
Genome Res
, vol.15
, Issue.7
, pp. 901-913
-
-
Cooper, G.M.1
Stone, E.A.2
Asimenos, G.3
-
20
-
-
0035188190
-
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
-
Liburd N, Ghosh M, Riazuddin S, et al. 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 (5): 535-541.
-
(2001)
Hum Genet
, vol.109
, Issue.5
, pp. 535-541
-
-
Liburd, N.1
Ghosh, M.2
Riazuddin, S.3
-
21
-
-
34948880109
-
Mutational spectrum of MYO15A: The large N-terminal extension of myosin XVA is required for hearing
-
Nal N, Ahmed ZM, Erkal E, et al. Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. Hum Mutat. 2007; 28 (10): 1014-1019.
-
(2007)
Hum Mutat
, vol.28
, Issue.10
, pp. 1014-1019
-
-
Nal, N.1
Ahmed, Z.M.2
Erkal, E.3
-
22
-
-
65249156445
-
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss
-
Shearer AE, Hildebrand MS, Webster JA, et al. Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. Laryngoscope. 2009; 119 (4): 727-733.
-
(2009)
Laryngoscope
, vol.119
, Issue.4
, pp. 727-733
-
-
Shearer, A.E.1
Hildebrand, M.S.2
Webster, J.A.3
-
23
-
-
84864151320
-
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population
-
Fattahi Z, Shearer AE, Babanejad M, et al. Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. Am J Med Genet A. 2012; 158A (8): 1857-1864.
-
(2012)
Am J Med Genet A
, vol.158
, Issue.8
, pp. 1857-1864
-
-
Fattahi, Z.1
Shearer, A.E.2
Babanejad, M.3
-
24
-
-
84857532404
-
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: A multicenter study
-
Deafness Gene Study Consortium
-
Usami S, Nishio SY, Nagano M, Abe S, Yamaguchi T, Deafness Gene Study Consortium. Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. PLoS One. 2012; 7 (2): e31276.
-
(2012)
PLoS One
, vol.7
, Issue.2
, pp. e31276
-
-
Usami, S.1
Nishio, S.Y.2
Nagano, M.3
Abe, S.4
Yamaguchi, T.5
-
25
-
-
34548563845
-
Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss
-
Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, Usami S,. Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. Clin Genet. 2007; 72 (4): 339-344.
-
(2007)
Clin Genet
, vol.72
, Issue.4
, pp. 339-344
-
-
Wagatsuma, M.1
Kitoh, R.2
Suzuki, H.3
Fukuoka, H.4
Takumi, Y.5
Usami, S.6
-
26
-
-
84921731671
-
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants
-
Shearer AE, Eppsteiner RW, Booth KT, et al. Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. Am J Hum Genet. 2014; 95 (4): 445-453.
-
(2014)
Am J Hum Genet
, vol.95
, Issue.4
, pp. 445-453
-
-
Shearer, A.E.1
Eppsteiner, R.W.2
Booth, K.T.3
-
27
-
-
0031204173
-
The future of cochlear implants
-
Wilson BS,. The future of cochlear implants. Br J Audiol. 1997; 31 (4): 205-225.
-
(1997)
Br J Audiol
, vol.31
, Issue.4
, pp. 205-225
-
-
Wilson, B.S.1
-
28
-
-
17644442703
-
Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene
-
5368
-
Probst FJ, Fridell RA, Raphael Y, et al. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science. 1998; 29;280 (5368): 1444-1447.
-
(1998)
Science
, vol.29
, Issue.280
, pp. 1444-1447
-
-
Probst, F.J.1
Fridell, R.A.2
Raphael, Y.3
-
29
-
-
80052869041
-
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
-
Brownstein Z, Friedman LM, Shahin H, et al. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol. 2011; 12 (9): R89.
-
(2011)
Genome Biol
, vol.12
, Issue.9
, pp. R89
-
-
Brownstein, Z.1
Friedman, L.M.2
Shahin, H.3
-
30
-
-
77955855341
-
Recurrent and private MYO15A mutations are associated with deafness in the Turkish population
-
Cengiz FB, Duman D, Sirmaci A, et al. Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. Genet Test Mol Biomarkers. 2010; 14 (4): 543-550.
-
(2010)
Genet Test Mol Biomarkers
, vol.14
, Issue.4
, pp. 543-550
-
-
Cengiz, F.B.1
Duman, D.2
Sirmaci, A.3
-
31
-
-
79959784947
-
A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population
-
Imtiaz F, Taibah K, Ramzan K, et al. A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population. BMC Med Genet. 2011; 12: 91.
-
(2011)
BMC Med Genet
, vol.12
, pp. 91
-
-
Imtiaz, F.1
Taibah, K.2
Ramzan, K.3
-
32
-
-
84857441955
-
Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss
-
Bashir R, Fatima A, Naz S,. Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss. Eur J Med Genet. 2012; 55 (2): 99-102.
-
(2012)
Eur J Med Genet
, vol.55
, Issue.2
, pp. 99-102
-
-
Bashir, R.1
Fatima, A.2
Naz, S.3
-
33
-
-
67049160269
-
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
-
Belguith H, Aifa-Hmani M, Dhouib H, et al. 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 (1): 147-151.
-
(2009)
Genet Test Mol Biomarkers
, vol.13
, Issue.1
, pp. 147-151
-
-
Belguith, H.1
Aifa-Hmani, M.2
Dhouib, H.3
-
34
-
-
34848929025
-
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
-
Kalay E, Uzumcu A, Krieger E, et al. MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A. 2007; 143A (20): 2382-2389.
-
(2007)
Am J Med Genet A
, vol.143
, Issue.20
, pp. 2382-2389
-
-
Kalay, E.1
Uzumcu, A.2
Krieger, E.3
-
35
-
-
79951991591
-
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey
-
Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M,. Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. Genet Test Mol Biomarkers. 2011; 15 (1-2): 29-33.
-
(2011)
Genet Test Mol Biomarkers
, vol.15
, Issue.1-2
, pp. 29-33
-
-
Duman, D.1
Sirmaci, A.2
Cengiz, F.B.3
Ozdag, H.4
Tekin, M.5
-
36
-
-
0032577293
-
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
-
Wang A, Liang Y, Fridell RA, et al. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science. 1998; 280 (5368): 1447-1451.
-
(1998)
Science
, vol.280
, Issue.5368
, pp. 1447-1451
-
-
Wang, A.1
Liang, Y.2
Fridell, R.A.3
-
37
-
-
37249080135
-
Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness
-
Lezirovitz K, Pardono E, de Mello Auricchio MT, et al. Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness. Eur J Hum Genet. 2008; 16 (1): 89-96.
-
(2008)
Eur J Hum Genet
, vol.16
, Issue.1
, pp. 89-96
-
-
Lezirovitz, K.1
Pardono, E.2
De Mello Auricchio, M.T.3
|