Zobrazeno 1 - 10
of 176
pro vyhledávání: '"Murray H. Brilliant"'
Autor:
Zhan Ye, John Mayer, Emili J. Leary, Terrie Kitchner, Richard A. Dart, Murray H. Brilliant, Scott J. Hebbring
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
It is well known that common variants in specific genes influence drug metabolism and response, but it is currently unknown what fraction of patients are given prescriptions over a lifetime that could be contraindicated by their pharmacogenomic profi
Externí odkaz:
https://doaj.org/article/6cee290281764408a2438a7e3eb10c58
Autor:
Ning Shang, Atlas Khan, Fernanda Polubriaginof, Francesca Zanoni, Karla Mehl, David Fasel, Paul E. Drawz, Robert J. Carrol, Joshua C. Denny, Matthew A. Hathcock, Adelaide M. Arruda-Olson, Peggy L. Peissig, Richard A. Dart, Murray H. Brilliant, Eric B. Larson, David S. Carrell, Sarah Pendergrass, Shefali Setia Verma, Marylyn D. Ritchie, Barbara Benoit, Vivian S. Gainer, Elizabeth W. Karlson, Adam S. Gordon, Gail P. Jarvik, Ian B. Stanaway, David R. Crosslin, Sumit Mohan, Iuliana Ionita-Laza, Nicholas P. Tatonetti, Ali G. Gharavi, George Hripcsak, Chunhua Weng, Krzysztof Kiryluk
Publikováno v:
npj Digital Medicine, Vol 4, Iss 1, Pp 1-13 (2021)
Abstract Chronic Kidney Disease (CKD) represents a slowly progressive disorder that is typically silent until late stages, but early intervention can significantly delay its progression. We designed a portable and scalable electronic CKD phenotype to
Externí odkaz:
https://doaj.org/article/24b3c498eb59459db6ee0b4a55ddf3e3
Autor:
Julie L. Barr, Michael Feehan, Casey Tak, Leah A. Owen, Robert C. Finley, Parker A. Cromwell, John H. Lillvis, Patrice M. Hicks, Elizabeth Au, Michael H. Farkas, Asher Weiner, Andrew L. Reynolds, Sandra F. Sieminski, Richard M. Sherva, Mark A. Munger, Murray H. Brilliant, Margaret M. DeAngelis
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 6, p 5636 (2023)
Glaucoma is the leading cause of irreversible blindness, affecting 76 million globally. It is characterized by irreversible damage to the optic nerve. Pharmacotherapy manages intraocular pressure (IOP) and slows disease progression. However, non-adhe
Externí odkaz:
https://doaj.org/article/9482716b292743f5932c831fe6bf6ed1
Autor:
Marsha R. Mailick, Jinkuk Hong, Leann Smith DaWalt, Jan S. Greenberg, Arezoo Movaghar, Mei Wang Baker, Paul J. Rathouz, Murray H. Brilliant
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
The FMR1 gene on the X chromosome has varying numbers of CGG repeats. The modal number is 30, and expansion to >200 results in fragile X syndrome, but the copy number extends down to 6. Past research suggests that individuals whose CGGs are in the
Externí odkaz:
https://doaj.org/article/94e54bc9129e4949a87b4b2c7a65bc38
Autor:
Jonathan D. Mosley, QiPing Feng, Quinn S. Wells, Sara L. Van Driest, Christian M. Shaffer, Todd L. Edwards, Lisa Bastarache, Wei-Qi Wei, Lea K. Davis, Catherine A. McCarty, Will Thompson, Christopher G. Chute, Gail P. Jarvik, Adam S. Gordon, Melody R. Palmer, David R. Crosslin, Eric B. Larson, David S. Carrell, Iftikhar J. Kullo, Jennifer A. Pacheco, Peggy L. Peissig, Murray H. Brilliant, James G. Linneman, Bahram Namjou, Marc S. Williams, Marylyn D. Ritchie, Kenneth M. Borthwick, Shefali S. Verma, Jason H. Karnes, Scott T. Weiss, Thomas J. Wang, C. Michael Stein, Josh C. Denny, Dan M. Roden
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Biomarker identification requires prohibitively large cohorts with gene expression and phenotype data. The approach introduced here learns polygenic predictors of expression from genetic and expression data, used to infer biomarker levels in patients
Externí odkaz:
https://doaj.org/article/f49b8a4e08894b7bab01494933978a43
Autor:
Molly A. Hall, John Wallace, Anastasia Lucas, Dokyoon Kim, Anna O. Basile, Shefali S. Verma, Cathy A. McCarty, Murray H. Brilliant, Peggy L. Peissig, Terrie E. Kitchner, Anurag Verma, Sarah A. Pendergrass, Scott M. Dudek, Jason H. Moore, Marylyn D. Ritchie
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
Centralized infrastructure to support analyses involving complexity beyond genome-wide association studies is broadly needed. Here, Ritchie and colleagues develop PLATO, a software tool to process and integrate various methods for this task.
Externí odkaz:
https://doaj.org/article/bb1e42b5fa3641f4b0265931ee4db643
Autor:
Jonathan D. Mosley, John S. Witte, Emma K. Larkin, Lisa Bastarache, Christian M. Shaffer, Jason H. Karnes, C. Michael Stein, Elizabeth Phillips, Scott J. Hebbring, Murray H. Brilliant, John Mayer, Zhan Ye, Dan M. Roden, Joshua C. Denny
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
Use of general linear mixed models (GLMMs) in genetic variance analysis can quantify the relative contribution of additive effects from genetic variation on a given trait. Here, Jonathan Mosley and colleagues apply GLMM in a phenome-wide analysis and
Externí odkaz:
https://doaj.org/article/5401bbf278ce480b9e71837f9f3eca2c
Publikováno v:
Journal of Oral Microbiology, Vol 7, Iss 0, Pp 1-10 (2015)
Background: Precision medicine (PM), representing clinically applicable personalized medicine, proactively integrates and interprets multidimensional personal health data, including clinical, ‘omics’, and environmental profiles, into clinical pra
Externí odkaz:
https://doaj.org/article/c7e7e67c8fb1456197d7c1ab324425dc
Autor:
Arezoo Movaghar, Bryan Kim, Julie Lounds Taylor, Marsha R. Mailick, Leann Smith DaWalt, Jinkuk Hong, Murray H. Brilliant
Publikováno v:
Autism Res
The purpose of the present study was to investigate the hypothesis that women with autism have poorer health compared with men with autism, and compared with women without autism. Utilizing electronic health records drawn from a single health care sy
Autor:
Arezoo Movaghar, Marsha R. Mailick, Peter K. Todd, Murray H. Brilliant, Jaime Boero, Jinkuk Hong, Leann Smith DaWalt, Deborah A. Hall, Elizabeth Berry-Kravis
Publikováno v:
Mov Disord
Background Premutation-sized (55-200) CGG repeat expansions in the FMR1 gene cause fragile X-associated tremor/ataxia syndrome (FXTAS). Most studies of premutation carriers utilized reverse ascertainment to identify patients, leading to a selection b