Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents-Reference-Cited by-同舟云学术

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Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Published:2016-06-25 Issue:8 Volume:135 Page:953-961
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Yan Denise,Tekin Demet,Bademci Guney,Foster Joseph,Cengiz F. Basak,Kannan-Sundhari Abhiraami,Guo Shengru,Mittal Rahul,Zou Bing,Grati Mhamed,Kabahuma Rosemary I.,Kameswaran Mohan,Lasisi Taye J.,Adedeji Waheed A.,Lasisi Akeem O.,Menendez Ibis,Herrera Marianna,Carranza Claudia,Maroofian Reza,Crosby Andrew H.,Bensaid Mariem,Masmoudi Saber,Behnam Mahdiyeh,Mojarrad Majid,Feng Yong,Duman Duygu,Mawla Alex M.,Nord Alex S.,Blanton Susan H.,Liu Xue Z.,Tekin Mustafa

Funder

National Institutes of Health

National Institute on Deafness and Other Communication Disorders

University of Pretoria

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-016-1697-z.pdf

Reference51 articles.

1. Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H (2008) Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet 40:1335–1340. doi: 10.1038/ng.245

2. Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL (2016) Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet 98:1067–1076. doi: 10.1016/j.ajhg.2016.03.024

3. Angeli S, Lin X, Liu XZ (2012) Genetics of hearing and deafness. Anat Rec (Hoboken) 295:1812–1829. doi: 10.1002/ar.22579

4. Aronson SJ, Rehm HL (2015) Building the foundation for genomics in precision medicine. Nature 526:336–342. doi: 10.1038/nature15816

5. Babanejad M, Fattahi Z, Bazazzadegan N, Nishimura C, Meyer N, Nikzat N, Sohrabi E, Najmabadi A, Jamali P, Habibi F, Smith RJ, Kahrizi K, Najmabadi H (2012) A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran. Am J Med Genet A 158A:2485–2492. doi: 10.1002/ajmg.a.35572

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