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Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ. Alagramam KN, et al. Hum Mol Genet. 2001 Aug 1;10(16):1709-18. doi: 10.1093/hmg/10.16.1709. Hum Mol Genet. 2001. PMID: 11487575
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Vona B, Mazaheri N, Lin SJ, Dunbar LA, Maroofian R, Azaiez H, Booth KT, Vitry S, Rad A, Rüschendorf F, Varshney P, Fowler B, Beetz C, Alagramam KN, Murphy D, Shariati G, Sedaghat A, Houlden H, Petree C, VijayKumar S, Smith RJH, Haaf T, El-Amraoui A, Bowl MR, Varshney GK, Galehdari H. Vona B, et al. Among authors: alagramam kn. Hum Genet. 2021 Jun;140(6):915-931. doi: 10.1007/s00439-020-02254-z. Epub 2021 Jan 26. Hum Genet. 2021. PMID: 33496845 Free PMC article.
A new spontaneous mutation in the mouse protocadherin 15 gene.
Zheng QY, Yu H, Washington JL 3rd, Kisley LB, Kikkawa YS, Pawlowski KS, Wright CG, Alagramam KN. Zheng QY, et al. Among authors: alagramam kn. Hear Res. 2006 Sep;219(1-2):110-20. doi: 10.1016/j.heares.2006.06.010. Epub 2006 Aug 2. Hear Res. 2006. PMID: 16887306 Free PMC article.
56 results