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Page 1
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ. Shearer AE, et al. Among authors: black ziegelbein ea. Am J Hum Genet. 2014 Oct 2;95(4):445-53. doi: 10.1016/j.ajhg.2014.09.001. Epub 2014 Sep 25. Am J Hum Genet. 2014. PMID: 25262649 Free PMC article.
AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL. Taylor KR, et al. Among authors: black ziegelbein ea. Hum Mutat. 2013 Apr;34(4):539-45. doi: 10.1002/humu.22268. Epub 2013 Feb 19. Hum Mutat. 2013. PMID: 23280582 Free PMC article.
Advancing genetic testing for deafness with genomic technology.
Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, Casavant TL, Kimberling WJ, Leproust EM, Smith RJ. Shearer AE, et al. Among authors: black ziegelbein ea. J Med Genet. 2013 Sep;50(9):627-34. doi: 10.1136/jmedgenet-2013-101749. Epub 2013 Jun 26. J Med Genet. 2013. PMID: 23804846 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: black ziegelbein ea. 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.
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H, Booth KT, Ephraim SS, Crone B, Black-Ziegelbein EA, Marini RJ, Shearer AE, Sloan-Heggen CM, Kolbe D, Casavant T, Schnieders MJ, Nishimura C, Braun T, Smith RJH. Azaiez H, et al. Among authors: black ziegelbein ea. Am J Hum Genet. 2018 Oct 4;103(4):484-497. doi: 10.1016/j.ajhg.2018.08.006. Epub 2018 Sep 20. Am J Hum Genet. 2018. PMID: 30245029 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. Among authors: black ziegelbein ea. 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: black ziegelbein ea. Genome Med. 2014 May 22;6(5):37. doi: 10.1186/gm554. eCollection 2014. Genome Med. 2014. PMID: 24963352 Free PMC article.
Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.
Eppsteiner RW, Shearer AE, Hildebrand MS, Deluca AP, Ji H, Dunn CC, Black-Ziegelbein EA, Casavant TL, Braun TA, Scheetz TE, Scherer SE, Hansen MR, Gantz BJ, Smith RJ. Eppsteiner RW, et al. Among authors: black ziegelbein ea. Hear Res. 2012 Oct;292(1-2):51-8. doi: 10.1016/j.heares.2012.08.007. Epub 2012 Aug 28. Hear Res. 2012. PMID: 22975204 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: black ziegelbein ea. 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.
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, … See abstract for full author list ➔ Brownstein CA, et al. Among authors: black ziegelbein ea. Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53. Genome Biol. 2014. PMID: 24667040 Free PMC article.