Kimberling WJ - Search Results

1

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ. Kimberling WJ, et al. Genet Med. 2010 Aug;12(8):512-6. doi: 10.1097/GIM.0b013e3181e5afb8. Genet Med. 2010. PMID: 20613545 Free PMC article.

2

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, Smith RJ, Kimberling WJ. Varga R, et al. Among authors: kimberling wj. J Med Genet. 2006 Jul;43(7):576-81. doi: 10.1136/jmg.2005.038612. Epub 2005 Dec 21. J Med Genet. 2006. PMID: 16371502 Free PMC article.

3

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: kimberling wj. 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.

4

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.

Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD. Booth KT, et al. Among authors: kimberling wj. Genet Med. 2019 Apr;21(4):948-954. doi: 10.1038/s41436-018-0285-0. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245514 Free PMC article.

5

Searching for evidence of DFNB2.

Astuto LM, Kelley PM, Askew JW, Weston MD, Smith RJ, Alswaid AF, Al-Rakaf M, Kimberling WJ. Astuto LM, et al. Among authors: kimberling wj. Am J Med Genet. 2002 May 15;109(4):291-7. doi: 10.1002/ajmg.10384. Am J Med Genet. 2002. PMID: 11992483

6

Gene mapping of the Usher syndromes.

Kimberling W, Smith RJ. Kimberling W, et al. Otolaryngol Clin North Am. 1992 Oct;25(5):923-34. Otolaryngol Clin North Am. 1992. PMID: 1408196 Review.

7

Connexin 26: required for normal auditory function.

Kelley PM, Cohn E, Kimberling WJ. Kelley PM, et al. Among authors: kimberling wj. Brain Res Brain Res Rev. 2000 Apr;32(1):184-8. doi: 10.1016/s0165-0173(99)00080-6. Brain Res Brain Res Rev. 2000. PMID: 10751669 Review.

8

Immunohistochemistry and reverse transcriptase-polymerase chain reaction as methods for diagnostic determination of usher syndrome type IIa.

Cohn E, Bhattacharya G, Pearsall N, Shendrik I, Kimberling W, Cosgrove D. Cohn E, et al. Laryngoscope. 2004 Jul;114(7):1310-4. doi: 10.1097/00005537-200407000-00032. Laryngoscope. 2004. PMID: 15235367

9

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

Hildebrand MS, Sorensen JL, Jensen M, Kimberling WJ, Smith RJ. Hildebrand MS, et al. Among authors: kimberling wj. Am J Med Genet A. 2008 Sep 1;146A(17):2258-65. doi: 10.1002/ajmg.a.32449. Am J Med Genet A. 2008. PMID: 18688868 Free PMC article.

10

Expressivity of hearing loss in cases with Usher syndrome type IIA.

Sadeghi AM, Cohn ES, Kimberling WJ, Halvarsson G, Möller C. Sadeghi AM, et al. Among authors: kimberling wj. Int J Audiol. 2013 Dec;52(12):832-7. doi: 10.3109/14992027.2013.839885. Epub 2013 Oct 28. Int J Audiol. 2013. PMID: 24160897

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