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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group. Shen J, et al. Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4. Genet Med. 2019. PMID: 31160754 Free PMC article.
The noncoding genome and hearing loss.
Avraham KB, Khalaily L, Noy Y, Kamal L, Koffler-Brill T, Taiber S. Avraham KB, et al. Hum Genet. 2022 Apr;141(3-4):323-333. doi: 10.1007/s00439-021-02359-z. Epub 2021 Sep 7. Hum Genet. 2022. PMID: 34491412 Review.
Genetics of Hearing Loss: Syndromic.
Koffler T, Ushakov K, Avraham KB. Koffler T, et al. Otolaryngol Clin North Am. 2015 Dec;48(6):1041-61. doi: 10.1016/j.otc.2015.07.007. Epub 2015 Oct 9. Otolaryngol Clin North Am. 2015. PMID: 26443487 Free PMC article. Review.
The LINC complex is essential for hearing.
Horn HF, Brownstein Z, Lenz DR, Shivatzki S, Dror AA, Dagan-Rosenfeld O, Friedman LM, Roux KJ, Kozlov S, Jeang KT, Frydman M, Burke B, Stewart CL, Avraham KB. Horn HF, et al. J Clin Invest. 2013 Feb;123(2):740-50. doi: 10.1172/JCI66911. Epub 2013 Jan 25. J Clin Invest. 2013. PMID: 23348741 Free PMC article.
23 results