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Page 1
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.
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. 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.
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. 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.
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. Among authors: frees kl. 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.
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.
Stiff HA, Sloan-Heggen CM, Ko A, Pfeifer WL, Kolbe DL, Nishimura CJ, Frees KL, Booth KT, Wang D, Weaver AE, Azaiez H, Kamholz J, Smith RJH, Drack AV. Stiff HA, et al. Among authors: frees kl. Ophthalmic Genet. 2020 Apr;41(2):151-158. doi: 10.1080/13816810.2020.1747088. Epub 2020 Apr 13. Ophthalmic Genet. 2020. PMID: 32281467 Free PMC article.
De novo variants are a common cause of genetic hearing loss.
Klimara MJ, Nishimura C, Wang D, Kolbe DL, Schaefer AM, Walls WD, Frees KL, Smith RJH, Azaiez H. Klimara MJ, et al. Among authors: frees kl. Genet Med. 2022 Dec;24(12):2555-2567. doi: 10.1016/j.gim.2022.08.028. Epub 2022 Oct 4. Genet Med. 2022. PMID: 36194208 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. 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.
32 results