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A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.
Lezirovitz K, Vieira-Silva GA, Batissoco AC, Levy D, Kitajima JP, Trouillet A, Ouyang E, Zebarjadi N, Sampaio-Silva J, Pedroso-Campos V, Nascimento LR, Sonoda CY, Borges VM, Vasconcelos LG, Beck RMO, Grasel SS, Jagger DJ, Grillet N, Bento RF, Mingroni-Netto RC, Oiticica J. Lezirovitz K, et al. Among authors: sonoda cy. Hum Mol Genet. 2020 Jun 3;29(9):1520-1536. doi: 10.1093/hmg/ddaa075. Hum Mol Genet. 2020. PMID: 32337552 Free PMC article.
Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.
Batissoco AC, Pedroso-Campos V, Pardono E, Sampaio-Silva J, Sonoda CY, Vieira-Silva GA, da Silva de Oliveira Longati EU, Mariano D, Hoshino ACH, Tsuji RK, Jesus-Santos R, Abath-Neto O, Bento RF, Oiticica J, Lezirovitz K. Batissoco AC, et al. Among authors: sonoda cy. Hum Genet. 2022 Apr;141(3-4):519-538. doi: 10.1007/s00439-021-02372-2. Epub 2021 Oct 1. Hum Genet. 2022. PMID: 34599368