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Page 1
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.
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.
Trpchevska N, Freidin MB, Broer L, Oosterloo BC, Yao S, Zhou Y, Vona B, Bishop C, Bizaki-Vallaskangas A, Canlon B, Castellana F, Chasman DI, Cherny S, Christensen K, Concas MP, Correa A, Elkon R; Estonian Biobank Research Team; Mengel-From J, Gao Y, Giersch ABS, Girotto G, Gudjonsson A, Gudnason V, Heard-Costa NL, Hertzano R, Hjelmborg JVB, Hjerling-Leffler J, Hoffman HJ, Kaprio J, Kettunen J, Krebs K, Kähler AK, Lallemend F, Launer LJ, Lee IM, Leonard H, Li CM, Lowenheim H, Magnusson PKE, van Meurs J, Milani L, Morton CC, Mäkitie A, Nalls MA, Nardone GG, Nygaard M, Palviainen T, Pratt S, Quaranta N, Rämö J, Saarentaus E, Sardone R, Satizabal CL, Schweinfurth JM, Seshadri S, Shiroma E, Shulman E, Simonsick E, Spankovich C, Tropitzsch A, Lauschke VM, Sullivan PF, Goedegebure A, Cederroth CR, Williams FMK, Nagtegaal AP. Trpchevska N, et al. Among authors: giersch abs. Am J Hum Genet. 2022 Jun 2;109(6):1077-1091. doi: 10.1016/j.ajhg.2022.04.010. Epub 2022 May 16. Am J Hum Genet. 2022. PMID: 35580588 Free PMC article.
Reporting of Diagnostic Cytogenetic Results.
Giersch ABS, Bieber FR, Dubuc AM, Fletcher JA, Ligon AH, Mason-Suares H, Morton CC, Weremowicz S, Xiao S, Cin PD. Giersch ABS, et al. Curr Protoc Hum Genet. 2016 Apr 1;89:A.1D.1-A.1D.23. doi: 10.1002/0471142905.hg01ds89. Curr Protoc Hum Genet. 2016. PMID: 27037490
Reporting of diagnostic cytogenetic results.
Ligon AH, Morton CC, Bieber FR, Fletcher JA, Giersch AB, Kantarci S, Leach N, Lee C, Sandstrom M, Weremowicz S, Xiao S, Dal Cin P. Ligon AH, et al. Among authors: giersch ab. Curr Protoc Hum Genet. 2011 Jul;Appendix 1:1D. doi: 10.1002/0471142905.hga01ds70. Curr Protoc Hum Genet. 2011. PMID: 21735374
Reporting of diagnostic cytogenetic results.
Ligon AH, Morton CC, Bieber FR, Fletcher JA, Giersch AB, Lee C, Sandstrom M, Weremowicz S, Xiao S, Dal Cin P. Ligon AH, et al. Among authors: giersch ab. Curr Protoc Hum Genet. 2004 Nov;Appendix 1:Appendix 1D. doi: 10.1002/0471142905.hga01ds43. Curr Protoc Hum Genet. 2004. PMID: 18428350
Reporting of diagnostic cytogenetic results.
Ligon AH, Morton CC, Bieber FR, Fletcher JA, Giersch AB, Kantarci S, Leach N, Lee C, Sandstrom M, Weremowicz S, Xiao S, Dal Cin P. Ligon AH, et al. Among authors: giersch ab. Curr Protoc Hum Genet. 2010 Oct;Appendix 1:1D.1-23. doi: 10.1002/0471142905.hga01ds67. Curr Protoc Hum Genet. 2010. PMID: 20891028
Ion channel gene expression in the inner ear.
Gabashvili IS, Sokolowski BH, Morton CC, Giersch AB. Gabashvili IS, et al. Among authors: giersch ab. J Assoc Res Otolaryngol. 2007 Sep;8(3):305-28. doi: 10.1007/s10162-007-0082-y. Epub 2007 Jun 1. J Assoc Res Otolaryngol. 2007. PMID: 17541769 Free PMC article.
20 results