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A new age in the genetics of deafness.
Rehm HL, Morton CC. Rehm HL, et al. Among authors: morton cc. Genet Med. 1999 Sep-Oct;1(6):295-302; quiz 303. doi: 10.1097/00125817-199909000-00009. Genet Med. 1999. PMID: 11258632 Free article. Review.
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB, Smith RJH, Shen J. Hirsch Y, et al. Among authors: morton cc. Eur J Hum Genet. 2021 Jun;29(6):988-997. doi: 10.1038/s41431-020-00790-w. Epub 2021 Jan 4. Eur J Hum Genet. 2021. PMID: 33398081 Free PMC article.
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J. Eudy JD, et al. Among authors: morton cc. Science. 1998 Jun 12;280(5370):1753-7. doi: 10.1126/science.280.5370.1753. Science. 1998. PMID: 9624053
372 results