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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: kolbe dl. 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.
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ. Azaiez H, et al. Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub 2014 May 6. Hum Mutat. 2014. PMID: 24729539 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. Among authors: kolbe dl. Genome Med. 2014 May 22;6(5):37. doi: 10.1186/gm554. eCollection 2014. Genome Med. 2014. PMID: 24963352 Free PMC article.
Cordova: web-based management of genetic variation data.
Ephraim SS, Anand N, DeLuca AP, Taylor KR, Kolbe DL, Simpson AC, Azaiez H, Sloan CM, Shearer AE, Hallier AR, Casavant TL, Scheetz TE, Smith RJ, Braun TA. Ephraim SS, et al. Among authors: kolbe dl. Bioinformatics. 2014 Dec 1;30(23):3438-9. doi: 10.1093/bioinformatics/btu539. Epub 2014 Aug 14. Bioinformatics. 2014. PMID: 25123904 Free PMC article.
Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation.
Moteki H, Azaiez H, Booth KT, Hattori M, Sato A, Sato Y, Motobayashi M, Sloan CM, Kolbe DL, Shearer AE, Smith RJ, Usami S. Moteki H, et al. Among authors: kolbe dl. Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1(1 0):177S-83S. doi: 10.1177/0003489415575045. Epub 2015 Mar 18. Ann Otol Rhinol Laryngol. 2015. PMID: 25788561 Free PMC article.
Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.
Sakuma N, Moteki H, Azaiez H, Booth KT, Takahashi M, Arai Y, Shearer AE, Sloan CM, Nishio SY, Kolbe DL, Iwasaki S, Oridate N, Smith RJ, Usami S. Sakuma N, et al. Among authors: kolbe dl. Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1(1 0):184S-92S. doi: 10.1177/0003489415575041. Epub 2015 Mar 18. Ann Otol Rhinol Laryngol. 2015. PMID: 25788564 Free PMC article.
High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.
Bu F, Borsa NG, Jones MB, Takanami E, Nishimura C, Hauer JJ, Azaiez H, Black-Ziegelbein EA, Meyer NC, Kolbe DL, Li Y, Frees K, Schnieders MJ, Thomas C, Nester C, Smith RJ. Bu F, et al. Among authors: kolbe dl. J Am Soc Nephrol. 2016 Apr;27(4):1245-53. doi: 10.1681/ASN.2015040385. Epub 2015 Aug 17. J Am Soc Nephrol. 2016. PMID: 26283675 Free PMC article.
40 results