Zobrazeno 1 - 10 of 149 pro vyhledávání: '"Michael F Murray"'
1
Akademický článek
Precision screening for familial hypercholesterolaemia: a machine learning study applied to electronic health encounter data
Autor: Kelly D Myers, BS, Joshua W Knowles, MD, David Staszak, PhD, Michael D Shapiro, DO, William Howard, PhD, Mrinal Yadava, MD, David Zuzick, MBA, Latoya Williamson, MS, Nigam H Shah, PhD, Juan M Banda, PhD, Joe Leader, BS, William C Cromwell, MD, Ed Trautman, PhD, Michael F Murray, ProfMD, Seth J Baum, MD, Seth Myers, PhD, Samuel S Gidding, MD, Katherine Wilemon, BS, Daniel J Rader, ProfMD
Publikováno v: The Lancet: Digital Health, Vol 1, Iss 8, Pp e393-e402 (2019)
Summary: Background: Cardiovascular outcomes for people with familial hypercholesterolaemia can be improved with diagnosis and medical management. However, 90% of individuals with familial hypercholesterolaemia remain undiagnosed in the USA. We aimed
Externí odkaz: https://doaj.org/article/afcf56b13f3644449e6e76f03276a057
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4
Akademický článek
Hereditary cancer genes are highly susceptible to splicing mutations.
Autor: Christy L Rhine, Kamil J Cygan, Rachel Soemedi, Samantha Maguire, Michael F Murray, Sean F Monaghan, William G Fairbrother
Publikováno v: PLoS Genetics, Vol 14, Iss 3, p e1007231 (2018)
Substitutions that disrupt pre-mRNA splicing are a common cause of genetic disease. On average, 13.4% of all hereditary disease alleles are classified as splicing mutations mapping to the canonical 5' and 3' splice sites. However, splicing mutations
Externí odkaz: https://doaj.org/article/9045e7911a7344f29ae0d2cd685a1647
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