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Page 1
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H, Booth KT, Ephraim SS, Crone B, Black-Ziegelbein EA, Marini RJ, Shearer AE, Sloan-Heggen CM, Kolbe D, Casavant T, Schnieders MJ, Nishimura C, Braun T, Smith RJH. Azaiez H, et al. Among authors: marini rj. Am J Hum Genet. 2018 Oct 4;103(4):484-497. doi: 10.1016/j.ajhg.2018.08.006. Epub 2018 Sep 20. Am J Hum Genet. 2018. PMID: 30245029 Free PMC article.
Structural Insights into Hearing Loss Genetics from Polarizable Protein Repacking.
Tollefson MR, Litman JM, Qi G, O'Connell CE, Wipfler MJ, Marini RJ, Bernabe HV, Tollefson WTA, Braun TA, Casavant TL, Smith RJH, Schnieders MJ. Tollefson MR, et al. Among authors: marini rj. Biophys J. 2019 Aug 6;117(3):602-612. doi: 10.1016/j.bpj.2019.06.030. Epub 2019 Jul 3. Biophys J. 2019. PMID: 31327459 Free PMC article.
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Walls WD, Moteki H, Thomas TR, Nishio SY, Yoshimura H, Iwasa Y, Frees KL, Nishimura CJ, Azaiez H, Booth KT, Marini RJ, Kolbe DL, Weaver AM, Schaefer AM, Wang K, Braun TA, Usami SI, Barr-Gillespie PG, Richardson GP, Smith RJ, Casavant TL. Walls WD, et al. Among authors: marini rj. Hum Genet. 2020 Oct;139(10):1315-1323. doi: 10.1007/s00439-020-02174-y. Epub 2020 May 7. Hum Genet. 2020. PMID: 32382995 Free PMC article.
Pitfalls in counselling: the craniosynostoses.
Marini R, Temple K, Chitty L, Genet S, Baraitser M. Marini R, et al. J Med Genet. 1991 Feb;28(2):117-21. doi: 10.1136/jmg.28.2.117. J Med Genet. 1991. PMID: 2002481 Free PMC article.
Assessing Variants of Uncertain Significance Implicated in Hearing Loss Using a Comprehensive Deafness Proteome.
Tollefson MR, Gogal RA, Weaver AM, Schaefer AM, Marini RJ, Azaiez H, Kolbe DL, Wang D, Weaver AE, Casavant TL, Braun TA, Smith RJH, Schnieders M. Tollefson MR, et al. Among authors: marini rj. Res Sq [Preprint]. 2023 Feb 1:rs.3.rs-2508462. doi: 10.21203/rs.3.rs-2508462/v1. Res Sq. 2023. Update in: Hum Genet. 2023 Jun;142(6):819-834. doi: 10.1007/s00439-023-02559-9 PMID: 36778238 Free PMC article. Updated. Preprint.