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First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.
Lin JH, Tang XY, Boulling A, Zou WB, Masson E, Fichou Y, Raud L, Le Tertre M, Deng SJ, Berlivet I, Ka C, Mort M, Hayden M, Leman R, Houdayer C, Le Gac G, Cooper DN, Li ZS, Férec C, Liao Z, Chen JM. Lin JH, et al. Among authors: hayden m. Hum Mutat. 2019 Oct;40(10):1856-1873. doi: 10.1002/humu.23821. Epub 2019 Jun 24. Hum Mutat. 2019. PMID: 31131953
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, Hussain M, Phillips AD, Cooper DN. Stenson PD, et al. Among authors: hayden m. Hum Genet. 2017 Jun;136(6):665-677. doi: 10.1007/s00439-017-1779-6. Epub 2017 Mar 27. Hum Genet. 2017. PMID: 28349240 Free PMC article. Review.
Pathogen genomics in healthcare: overcoming barriers to proactive surveillance.
Sundermann AJ, Rosa R, Harris PNA, Snitkin E, Javaid W, Moore NM, Hayden MK, Allen K, Rodino K, Peacock SJ, Abbo LM, Harrison LH. Sundermann AJ, et al. Among authors: hayden mk. Antimicrob Agents Chemother. 2024 Dec 5:e0147924. doi: 10.1128/aac.01479-24. Online ahead of print. Antimicrob Agents Chemother. 2024. PMID: 39636107 Free article.
1,769 results