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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 2
1988 2
1989 1
1990 2
1991 2
1992 2
1993 3
1994 2
1995 5
1996 3
1997 3
1998 3
1999 5
2000 6
2001 6
2002 10
2003 9
2004 6
2005 6
2006 6
2007 2
2008 2
2009 9
2010 14
2011 7
2012 4
2013 11
2014 10
2015 4
2016 5
2017 4
2018 6
2019 6
2020 11
2021 12
2022 9
2023 7
2024 2
2025 0

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187 results

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Page 1
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group. Oza AM, et al. Among authors: avraham kb. Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630. Hum Mutat. 2018. PMID: 30311386 Free PMC article.
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. Among authors: avraham kb. 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.
Genomic analysis of inherited hearing loss in the Palestinian population.
Abu Rayyan A, Kamal L, Casadei S, Brownstein Z, Zahdeh F, Shahin H, Canavati C, Dweik D, Jaraysa T, Rabie G, Carlson RJ, Gulsuner S, Lee MK, Avraham KB, Walsh T, King MC, Kanaan MN. Abu Rayyan A, et al. Among authors: avraham kb. Proc Natl Acad Sci U S A. 2020 Aug 18;117(33):20070-20076. doi: 10.1073/pnas.2009628117. Epub 2020 Aug 3. Proc Natl Acad Sci U S A. 2020. PMID: 32747562 Free PMC article.
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Among authors: avraham kb. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 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. Among authors: avraham kb. 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.
Using multi-scale genomics to associate poorly annotated genes with rare diseases.
Canavati C, Sherill-Rofe D, Kamal L, Bloch I, Zahdeh F, Sharon E, Terespolsky B, Allan IA, Rabie G, Kawas M, Kassem H, Avraham KB, Renbaum P, Levy-Lahad E, Kanaan M, Tabach Y. Canavati C, et al. Among authors: avraham kb. Genome Med. 2024 Jan 4;16(1):4. doi: 10.1186/s13073-023-01276-2. Genome Med. 2024. PMID: 38178268 Free PMC article.
DFNA15.
Avraham KB. Avraham KB. Adv Otorhinolaryngol. 2000;56:107-15. doi: 10.1159/000059091. Adv Otorhinolaryngol. 2000. PMID: 10868222 No abstract available.
The Genomics of Auditory Function and Disease.
Taiber S, Gwilliam K, Hertzano R, Avraham KB. Taiber S, et al. Among authors: avraham kb. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:275-299. doi: 10.1146/annurev-genom-121321-094136. Epub 2022 Jun 6. Annu Rev Genomics Hum Genet. 2022. PMID: 35667089 Free PMC article. Review.
187 results