Search Results - "Booth, K.T."

Variants in CIB2 cause DFNB48 and not USH1J by Booth, K.T., Kahrizi, K., Babanejad, M., Daghagh, H., Bademci, G., Arzhangi, S., Zareabdollahi, D., Duman, D., El‐Amraoui, A., Tekin, M., Najmabadi, H., Azaiez, H., Smith, R.J.

“…The mutational spectrum of CIB2 includes missense, nonsense, splice‐site, frameshift and copy number variants. Regardless of variant‐type, location or…”
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Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population by Moteki, H., Azaiez, H., Booth, K.T., Shearer, A.E., Sloan, C. M., Kolbe, D.L., Nishio, S., Hattori, M., Usami, S., Smith, R.J.H.

“…Recent advances in targeted genomic enrichment with massively parallel sequencing (TGE+MPS) have made comprehensive genetic testing for non‐syndromic hearing…”
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