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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB, Smith RJH, Shen J. Hirsch Y, et al. Among authors: frees k. Eur J Hum Genet. 2021 Jun;29(6):988-997. doi: 10.1038/s41431-020-00790-w. Epub 2021 Jan 4. Eur J Hum Genet. 2021. PMID: 33398081 Free PMC article.
Exonic mutations and exon skipping: Lessons learned from DFNA5.
Booth KT, Azaiez H, Kahrizi K, Wang D, Zhang Y, Frees K, Nishimura C, Najmabadi H, Smith RJ. Booth KT, et al. Among authors: frees k. Hum Mutat. 2018 Mar;39(3):433-440. doi: 10.1002/humu.23384. Epub 2018 Jan 11. Hum Mutat. 2018. PMID: 29266521 Free PMC article.
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE, Black-Ziegelbein EA, Wang D, Azaiez H, Smith RJH. Sloan-Heggen CM, et al. Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11. Hum Genet. 2016. PMID: 26969326 Free PMC article.
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Walls WD, Moteki H, Thomas TR, Nishio SY, Yoshimura H, Iwasa Y, Frees KL, Nishimura CJ, Azaiez H, Booth KT, Marini RJ, Kolbe DL, Weaver AM, Schaefer AM, Wang K, Braun TA, Usami SI, Barr-Gillespie PG, Richardson GP, Smith RJ, Casavant TL. Walls WD, et al. Among authors: frees kl. Hum Genet. 2020 Oct;139(10):1315-1323. doi: 10.1007/s00439-020-02174-y. Epub 2020 May 7. Hum Genet. 2020. PMID: 32382995 Free PMC article.
Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.
Beheshtian M, Babanejad M, Azaiez H, Bazazzadegan N, Kolbe D, Sloan-Heggen C, Arzhangi S, Booth K, Mohseni M, Frees K, Azizi MH, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Najmabadi H. Beheshtian M, et al. Among authors: frees k. Arch Iran Med. 2016 Oct 1;19(10):720-728. Arch Iran Med. 2016. PMID: 27743438 Free PMC article. Review.
Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients.
Seligman KL, Shearer AE, Frees K, Nishimura C, Kolbe D, Dunn C, Hansen MR, Gantz BJ, Smith RJH. Seligman KL, et al. Among authors: frees k. Otolaryngol Head Neck Surg. 2022 Apr;166(4):734-737. doi: 10.1177/01945998211021308. Epub 2021 Jun 22. Otolaryngol Head Neck Surg. 2022. PMID: 34154485 Free PMC article.
Copy number variants are a common cause of non-syndromic hearing loss.
Shearer AE, Kolbe DL, Azaiez H, Sloan CM, Frees KL, Weaver AE, Clark ET, Nishimura CJ, Black-Ziegelbein EA, Smith RJ. Shearer AE, et al. Genome Med. 2014 May 22;6(5):37. doi: 10.1186/gm554. eCollection 2014. Genome Med. 2014. PMID: 24963352 Free PMC article.
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H. Sloan-Heggen CM, et al. Among authors: frees kl. J Med Genet. 2015 Dec;52(12):823-9. doi: 10.1136/jmedgenet-2015-103389. Epub 2015 Oct 7. J Med Genet. 2015. PMID: 26445815 Free PMC article.
37 results