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Page 1
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB. Schultz JM, et al. Among authors: muskett ja. J Med Genet. 2011 Nov;48(11):767-75. doi: 10.1136/jmedgenet-2011-100262. Epub 2011 Sep 22. J Med Genet. 2011. PMID: 21940737
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.
Zein WM, Falsini B, Tsilou ET, Turriff AE, Schultz JM, Friedman TB, Brewer CC, Zalewski CK, King KA, Muskett JA, Rehman AU, Morell RJ, Griffith AJ, Sieving PA. Zein WM, et al. Among authors: muskett ja. Invest Ophthalmol Vis Sci. 2014 Nov 25;56(1):107-14. doi: 10.1167/iovs.14-15355. Invest Ophthalmol Vis Sci. 2014. PMID: 25425308 Free PMC article. Clinical Trial.
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
Chattaraj P, Munjal T, Honda K, Rendtorff ND, Ratay JS, Muskett JA, Risso DS, Roux I, Gertz EM, Schäffer AA, Friedman TB, Morell RJ, Tranebjærg L, Griffith AJ. Chattaraj P, et al. Among authors: muskett ja. J Med Genet. 2017 Oct;54(10):665-673. doi: 10.1136/jmedgenet-2017-104721. Epub 2017 Aug 5. J Med Genet. 2017. PMID: 28780564 Free PMC article.
Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
Chattaraj P, Reimold FR, Muskett JA, Shmukler BE, Chien WW, Madeo AC, Pryor SP, Zalewski CK, Butman JA, Brewer CC, Kenna MA, Alper SL, Griffith AJ. Chattaraj P, et al. Among authors: muskett ja. JAMA Otolaryngol Head Neck Surg. 2013 Sep;139(9):907-13. doi: 10.1001/jamaoto.2013.4185. JAMA Otolaryngol Head Neck Surg. 2013. PMID: 24051746
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.
Muskett JA, Chattaraj P, Heneghan JF, Reimold FR, Shmukler BE, Brewer CC, King KA, Zalewski CK, Shawker TH, Butman JA, Kenna MA, Chien WW, Alper SL, Griffith AJ. Muskett JA, et al. Laryngoscope. 2016 Jul;126(7):E240-7. doi: 10.1002/lary.25737. Epub 2015 Oct 20. Laryngoscope. 2016. PMID: 26485571 Free PMC article.
SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.
Ito T, Choi BY, King KA, Zalewski CK, Muskett J, Chattaraj P, Shawker T, Reynolds JC, Butman JA, Brewer CC, Wangemann P, Alper SL, Griffith AJ. Ito T, et al. Among authors: muskett j. Cell Physiol Biochem. 2011;28(3):545-52. doi: 10.1159/000335119. Epub 2011 Nov 18. Cell Physiol Biochem. 2011. PMID: 22116369 Free PMC article. Review.
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