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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.
Stewardship Prompts to Improve Antibiotic Selection for Pneumonia: The INSPIRE Randomized Clinical Trial.
Gohil SK, Septimus E, Kleinman K, Varma N, Avery TR, Heim L, Rahm R, Cooper WS, Cooper M, McLean LE, Nickolay NG, Weinstein RA, Burgess LH, Coady MH, Rosen E, Sljivo S, Sands KE, Moody J, Vigeant J, Rashid S, Gilbert RF, Smith KN, Carver B, Poland RE, Hickok J, Sturdevant SG, Calderwood MS, Weiland A, Kubiak DW, Reddy S, Neuhauser MM, Srinivasan A, Jernigan JA, Hayden MK, Gowda A, Eibensteiner K, Wolf R, Perlin JB, Platt R, Huang SS. Gohil SK, et al. Among authors: hayden mk. JAMA. 2024 Apr 19. doi: 10.1001/jama.2024.6248. Online ahead of print. JAMA. 2024. PMID: 38639729
Stewardship Prompts to Improve Antibiotic Selection for Urinary Tract Infection: The INSPIRE Randomized Clinical Trial.
Gohil SK, Septimus E, Kleinman K, Varma N, Avery TR, Heim L, Rahm R, Cooper WS, Cooper M, McLean LE, Nickolay NG, Weinstein RA, Burgess LH, Coady MH, Rosen E, Sljivo S, Sands KE, Moody J, Vigeant J, Rashid S, Gilbert RF, Smith KN, Carver B, Poland RE, Hickok J, Sturdevant SG, Calderwood MS, Weiland A, Kubiak DW, Reddy S, Neuhauser MM, Srinivasan A, Jernigan JA, Hayden MK, Gowda A, Eibensteiner K, Wolf R, Perlin JB, Platt R, Huang SS. Gohil SK, et al. Among authors: hayden mk. JAMA. 2024 Apr 19. doi: 10.1001/jama.2024.6259. Online ahead of print. JAMA. 2024. PMID: 38639723
1,734 results