Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Joan M. Hebert"'
Autor:
Frederick E Dewey, Rong Chen, Sergio P Cordero, Kelly E Ormond, Colleen Caleshu, Konrad J Karczewski, Michelle Whirl-Carrillo, Matthew T Wheeler, Joel T Dudley, Jake K Byrnes, Omar E Cornejo, Joshua W Knowles, Mark Woon, Katrin Sangkuhl, Li Gong, Caroline F Thorn, Joan M Hebert, Emidio Capriotti, Sean P David, Aleksandra Pavlovic, Anne West, Joseph V Thakuria, Madeleine P Ball, Alexander W Zaranek, Heidi L Rehm, George M Church, John S West, Carlos D Bustamante, Michael Snyder, Russ B Altman, Teri E Klein, Atul J Butte, Euan A Ashley
Publikováno v:
PLoS Genetics, Vol 7, Iss 9, p e1002280 (2011)
Whole-genome sequencing harbors unprecedented potential for characterization of individual and family genetic variation. Here, we develop a novel synthetic human reference sequence that is ethnically concordant and use it for the analysis of genomes
Externí odkaz:
https://doaj.org/article/9571fe0f3780487795dd050f430aa65b
Autor:
Howard L. McLeod, Lynne Lennard, Elke Schaeffeler, Joan M. Hebert, Ellen M. McDonagh, Mary V. Relling, Richard M. Weinshilboum, Malin Lindqvist Appell, Matthias Schwab, Tony Marinaki, William E. Evans, Sally A. Coulthard, Teri E. Klein, Jonathan S. Berg, John A. Duley, Allen Eng Juh Yeoh, Martin A. Kennedy
Publikováno v:
Pharmacogenetics and Genomics. 23:242-248
The drug-metabolizing enzyme thiopurine methyltransferase (TPMT) has become one of the best examples of pharmacogenomics to be translated into routine clinical practice. TPMT metabolizes the thiopurines 6-mercaptopurine, 6-thioguanine, and azathiopri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea9248d4e52d3e647e5a61198d3b7979
https://doi.org/10.1097/fpc.0b013e32835f1cc0
https://doi.org/10.1097/fpc.0b013e32835f1cc0
Autor:
Li Gong, Michelle Whirl-Carrillo, Joan M. Hebert, Caroline F. Thorn, Ellen M. McDonagh, Russ B. Altman, Katrin Sangkuhl, Teri E. Klein
Publikováno v:
Clinical Pharmacology & Therapeutics. 92:414-417
The Pharmacogenomics Knowledgebase (PharmGKB) is a resource that collects, curates, and disseminates information about the impact of human genetic variation on drug responses. It provides clinically relevant information, including dosing guidelines,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009c3268cc7d449ed2dbd18a2f1b5f78
https://doi.org/10.1038/clpt.2012.96
https://doi.org/10.1038/clpt.2012.96
Publikováno v:
Pharmacogenetics and Genomics. 22:555-558
The aim of a PharmGKB VIP summary is to provide a simple overview of a gene with respect to drug effects. In some cases, there may be extensive evidence of variants that have known pharmacogenomic relevance, whereas in other cases, the summary may se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1102261ad3d7f3e4ea4f847a3c45175b
https://doi.org/10.1097/fpc.0b013e328351d47f
https://doi.org/10.1097/fpc.0b013e328351d47f
Autor:
Richard M. Weinshilboum, Liewei Wang, Russ B. Altman, Teri E. Klein, Joan M. Hebert, Julie A. Johnson, Linda L. Pelleymounter
Publikováno v:
Pharmacogenetics and Genomics. 20:401-405
Thiopurine S-methyltransferase (TPMT, S-adenosyl-L-methionine : thiopurine S-methyltransferase; EC 2.1.1.67) catalyzes the S-methylation of thiopurine drugs such as 6-mercaptopurine (6-MP) and azathioprine as well as other aromatic and heterocyclic s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8893076655761fe58c510c1f801371cf
https://doi.org/10.1097/fpc.0b013e3283352860
https://doi.org/10.1097/fpc.0b013e3283352860
Autor:
Matthew T. Wheeler, Stephen R. Quake, Euan A. Ashley, Laura M. Hodges, Joseph V. Thakuria, Joshua W. Knowles, Kelly E. Ormond, Dmitry Pushkarev, Joan M. Hebert, Joel T. Dudley, Mark Woon, Frederick E. Dewey, Katrin Sangkuhl, Alexander A. Morgan, Alexander Wait Zaranek, Dorit S. Berlin, Abraham M. Rosenbaum, Louanne Hudgins, Michael F. Chou, Rong Chen, Atul J. Butte, George M. Church, Aleksandra Pavlovic, Teri E. Klein, Caroline F. Thorn, Henry T. Greely, Li Gong, Ryan Whaley, Russ B. Altman, Norma F. Neff, Hersh Sagreiya
Publikováno v:
The Lancet. 375:1525-1535
Summary Background The cost of genomic information has fallen steeply, but the clinical translation of genetic risk estimates remains unclear. We aimed to undertake an integrated analysis of a complete human genome in a clinical context. Methods We a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8d4f54bf2e1f647abdda37f15e523a5
https://doi.org/10.1016/s0140-6736(10)60452-7
https://doi.org/10.1016/s0140-6736(10)60452-7
Autor:
Li Gong, Russ B. Altman, Tina Hernandez-Boussard, Joan M. Hebert, Mark Woon, Chuong Truong, Winston Gor, Teri E. Klein, Ryan Whaley, Feng Liu, Mei Gong, Ryan P. Owen, Michelle Whirl-Carrillo, Tina Zhou
Publikováno v:
Nucleic Acids Research
PharmGKB is a knowledge base that captures the relationships between drugs, diseases/phenotypes and genes involved in pharmacokinetics (PK) and pharmacodynamics (PD). This information includes literature annotations, primary data sets, PK and PD path
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10fc0a01ecfe10f8ebb3783c49728746
http://europepmc.org/articles/PMC2238877
http://europepmc.org/articles/PMC2238877
Autor:
Mau-Song Chang, Yii-Der Ida Chen, Neil Risch, Richard A. Olshen, Joan M. Hebert, David Curb, David Cox, Chin-Fu Hsiao, Victor J. Dzau, Dee Pei, Robert Pesich, Chih-Tai Ting, Michael Olivier, Koustubh Ranade, David Botstein
Publikováno v:
Genome Research. 11:1262-1268
To make large-scale association studies a reality, automated high-throughput methods for genotyping with single-nucleotide polymorphisms (SNPs) are needed. We describe PCR conditions that permit the use of the TaqMan or 5′ nuclease allelic discrimi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d2f4c0514f37d2c080f86dee0c70e82
https://doi.org/10.1101/gr.157801
https://doi.org/10.1101/gr.157801
Autor:
Richard A. Olshen, David Botstein, Mau-Song Chang, Neil Risch, Koustubh Ranade, David R. Cox, David Curb, Joan M. Hebert, Agnes Chao Hsuing, Ying-Tsung Chen, Yii-Der Ida Chen, Kwan-Dun Wu, Victor J. Dzau
Publikováno v:
American Journal of Hypertension. 13:704-709
Recent studies have found the tryptophan allele of a glycine to tryptophan polymorphism at position 460 (G460W) of the alpha-adducin protein to be associated with essential hypertension in European populations. We examined whether the tryptophan alle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8491abb65e1b9571e03e3c958343b3d
https://doi.org/10.1016/s0895-7061(00)00238-7
https://doi.org/10.1016/s0895-7061(00)00238-7
Autor:
Chris D. Clark, J. Raymond DePaulo, Koustubh Ranade, Carl Friddle, Leonid Kruglyak, Mark J. Daly, Jianfeng Xu, Theresa Swift-Scanlan, Rebecca Koskela, Michele Cargill, Dean F. MacKinnon, Deborah A. Meyers, Francis J. McMahon, Joan M. Hebert, Sylvia G. Simpson, Susan E. Folstein, Thomas G. Marr, Melvin G. McInnis, O. Colin Stine, Kay Redfield Jamison, David Botstein
Publikováno v:
The American Journal of Human Genetics. 66(1):205-215
A genome scan of approximately 12-cM initial resolution was done on 50 of a set of 51 carefully ascertained unilineal multiplex families segregating the bipolar affective disorder phenotype. In addition to standard multipoint linkage analysis methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c14d37a3151ea7815ff0e73ee1003cc9