Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care

作者: A. Eliot Shearer , Richard J. H. Smith

DOI: 10.1177/0194599815591156

关键词:

摘要: … We also identified 8 reports that detailed cases in which … Two of the case reports used comprehensive genetic testing … These cases underscore the versatility of comprehensive …

参考文章(48)
X. Gu, L. Guo, H. Ji, S. Sun, R. Chai, L. Wang, H. Li, Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. Clinical Genetics. ,vol. 87, pp. 588- 593 ,(2015) , 10.1111/CGE.12431
Rajini R Haraksingh, Fereshteh Jahanbani, Juan Rodriguez-Paris, Joel Gelernter, Kari C Nadeau, John S Oghalai, Iris Schrijver, Michael P Snyder, Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss BMC Genomics. ,vol. 15, pp. 1155- 1155 ,(2014) , 10.1186/1471-2164-15-1155
D. Tekin, E. Tutar, H. Ozturkmen Akay, S. Blanton, J. Foster, M. Tekin, Comprehensive genetic testing can save lives in hereditary hearing loss Clinical Genetics. ,vol. 87, pp. 190- 191 ,(2015) , 10.1111/CGE.12376
A. E. Shearer, A. P. DeLuca, M. S. Hildebrand, K. R. Taylor, J. Gurrola, S. Scherer, T. E. Scheetz, R. J. H. Smith, Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing Proceedings of the National Academy of Sciences of the United States of America. ,vol. 107, pp. 21104- 21109 ,(2010) , 10.1073/PNAS.1012989107
Haiting Ji, Jingqiao Lu, Jianjun Wang, Huawei Li, Xi Lin, Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness BMC Ear, Nose and Throat Disorders. ,vol. 14, pp. 9- 9 ,(2014) , 10.1186/1472-6815-14-9
Nicole Hoppman, Umut Aypar, Pamela Brodersen, Neil Brown, Justin Wilson, Dusica Babovic-Vuksanovic, Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3 Molecular Cytogenetics. ,vol. 6, pp. 19- 19 ,(2013) , 10.1186/1755-8166-6-19
A Eliot Shearer, Robert W Eppsteiner, Kevin T Booth, Sean S Ephraim, José Gurrola II, Allen Simpson, E Ann Black-Ziegelbein, Swati Joshi, Harini Ravi, Angelica C Giuffre, Scott Happe, Michael S Hildebrand, Hela Azaiez, Yildirim A Bayazit, Mehmet Emin Erdal, Jose A Lopez-Escamez, Irene Gazquez, Marta L Tamayo, Nancy Y Gelvez, Greizy Lopez Leal, Chaim Jalas, Josef Ekstein, Tao Yang, Shin-ichi Usami, Kimia Kahrizi, Niloofar Bazazzadegan, Hossein Najmabadi, Todd E Scheetz, Terry A Braun, Thomas L Casavant, Emily M LeProust, Richard JH Smith, None, Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants American Journal of Human Genetics. ,vol. 95, pp. 445- 453 ,(2014) , 10.1016/J.AJHG.2014.09.001
Heidi L. Rehm, Disease-targeted sequencing: a cornerstone in the clinic Nature Reviews Genetics. ,vol. 14, pp. 295- 300 ,(2013) , 10.1038/NRG3463
Xue Gao, Yu Su, Li-Ping Guan, Yong-Yi Yuan, Sha-Sha Huang, Yu Lu, Guo-Jian Wang, Ming-Yu Han, Fei Yu, Yue-Shuai Song, Qing-Yan Zhu, Jing Wu, Pu Dai, Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family PLOS ONE. ,vol. 8, pp. 63026- ,(2013) , 10.1371/JOURNAL.PONE.0063026
Mark B. Consugar, Daniel Navarro-Gomez, Emily M. Place, Kinga M. Bujakowska, Maria E. Sousa, Zoë D. Fonseca-Kelly, Daniel G. Taub, Maria Janessian, Dan Yi Wang, Elizabeth D. Au, Katherine B. Sims, David A. Sweetser, Anne B. Fulton, Qin Liu, Janey L. Wiggs, Xiaowu Gai, Eric A. Pierce, Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing Genetics in Medicine. ,vol. 17, pp. 253- 261 ,(2015) , 10.1038/GIM.2014.172