Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging von Hou, Ying-Chen Claire, Yu, Hung-Chun, Martin, Rick, Cirulli, Elizabeth T., Schenker-Ahmed, Natalie M., Hicks, Michael, Cohen, Isaac V., Jönsson, Thomas J., Heister, Robyn, Napier, Lori, Swisher, Christine Leon, Dominguez, Saints, Tang, Haibao, Li, Weizhong, Perkins, Bradley A., Barea, Jaime, Rybak, Christina, Smith, Emily, Duchicela, Keegan, Doney, Michael, Brar, Pamila, Hernandez, Nathaniel, Kirkness, Ewen F., Kahn, Andrew M., Venter, J. Craig, Karow, David S., Caskey, C. Thomas

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Identification of Misclassified ClinVar Variants via Disease Population Prevalence von Shah, Naisha, Hou, Ying-Chen Claire, Yu, Hung-Chun, Sainger, Rachana, Caskey, C. Thomas, Venter, J. Craig, Telenti, Amalio

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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism von Schaaf, Christian P, Gonzalez-Garay, Manuel L, Xia, Fan, Potocki, Lorraine, Gripp, Karen W, Zhang, Baili, Peters, Brock A, McElwain, Mark A, Drmanac, Radoje, Beaudet, Arthur L, Caskey, C Thomas, Yang, Yaping

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Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes von Tang, Haibao, Kirkness, Ewen F., Lippert, Christoph, Biggs, William H., Fabani, Martin, Guzman, Ernesto, Ramakrishnan, Smriti, Lavrenko, Victor, Kakaradov, Boyko, Hou, Claire, Hicks, Barry, Heckerman, David, Och, Franz J., Caskey, C. Thomas, Venter, J. Craig, Telenti, Amalio

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Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy von Mo, Zhongying, Zhao, Xiaobei, Liu, Huaqing, Hu, Qinghua, Chen, Xu-Qiao, Pham, Jessica, Wei, Na, Liu, Ze, Zhou, Jiadong, Burgess, Robert W., Pfaff, Samuel L., Caskey, C. Thomas, Wu, Chengbiao, Bai, Ge, Yang, Xiang-Lei

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Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults von Perkins, Bradley A., Caskey, C. Thomas, Brar, Pamila, Dec, Eric, Karow, David S., Kahn, Andrew M., Hou, Ying-Chen Claire, Shah, Naisha, Boeldt, Debbie, Coughlin, Erin, Hands, Gabby, Lavrenko, Victor, Yu, James, Procko, Andrea, Appis, Julia, Dale, Anders M., Guo, Lining, Jönsson, Thomas J., Wittmann, Bryan M., Bartha, Istvan, Ramakrishnan, Smriti, Bernal, Axel, Brewer, James B., Brewerton, Suzanne, Biggs, William H., Turpaz, Yaron, Venter, J. Craig

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Plasma metabolomic profiles enhance precision medicine for volunteers of normal health von Guo, Lining, Milburn, Michael V., Ryals, John A., Lonergan, Shaun C., Mitchell, Matthew W., Wulff, Jacob E., Alexander, Danny C., Evans, Anne M., Bridgewater, Brandi, Miller, Luke, Gonzalez-Garay, Manuel L., Caskey, C. Thomas

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2021 Allan Award von Caskey, C. Thomas

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Personalized genomic disease risk of volunteers von Gonzalez-Garay, Manuel L., McGuire, Amy L., Pereira, Stacey, Caskey, C. Thomas

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Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium von Zoltick, Emilie S, Linderman, Michael D, McGinniss, Molly A, Ramos, Erica, Ball, Madeleine P, Church, George M, Leonard, Debra G B, Pereira, Stacey, McGuire, Amy L, Caskey, C Thomas, Sanderson, Saskia C, Schadt, Eric E, Nielsen, Daiva E, Crawford, Scott D, Green, Robert C

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Using genetic diagnosis to determine individual therapeutic utility von Caskey, C Thomas

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Precision Medicine: Functional Advancements von Caskey, Thomas

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An unsupervised learning approach to identify novel signatures of health and disease from multimodal data von Shomorony, Ilan, Cirulli, Elizabeth T, Huang, Lei, Napier, Lori A, Heister, Robyn R, Hicks, Michael, Cohen, Isaac V, Yu, Hung-Chun, Swisher, Christine Leon, Schenker-Ahmed, Natalie M, Li, Weizhong, Nelson, Karen E, Brar, Pamila, Kahn, Andrew M, Spector, Timothy D, Caskey, C Thomas, Venter, J Craig, Karow, David S, Kirkness, Ewen F, Shah, Naisha

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The RNA code: Nature’s Rosetta Stone von Caskey, C Thomas, Leder, Philip

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The drug development crisis: efficiency and safety von Caskey, C Thomas

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Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk von Cirulli, Elizabeth T., Guo, Lining, Leon Swisher, Christine, Shah, Naisha, Huang, Lei, Napier, Lori A., Kirkness, Ewen F., Spector, Tim D., Caskey, C. Thomas, Thorens, Bernard, Venter, J. Craig, Telenti, Amalio

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Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites von Long, Tao, Hicks, Michael, Yu, Hung-Chun, Biggs, William H, Kirkness, Ewen F, Menni, Cristina, Zierer, Jonas, Small, Kerrin S, Mangino, Massimo, Messier, Helen, Brewerton, Suzanne, Turpaz, Yaron, Perkins, Brad A, Evans, Anne M, Miller, Luke A D, Guo, Lining, Caskey, C Thomas, Schork, Nicholas J, Garner, Chad, Spector, Tim D, Venter, J Craig, Telenti, Amalio

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Stephen T. Warren: Human geneticist who advanced understanding of mutational mechanisms and developmental disorders von Nelson, David L., Caskey, C. Thomas

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Correction of Chromosomal Mutation and Random Integration in Embryonic Stem Cells with Helper-Dependent Adenoviral Vectors von Ohbayashi, Fumi, Balamotis, Michael A., Kishimoto, Atsuhiro, Aizawa, Emi, Diaz, Arturo, Hasty, Paul, Graham, Frank L., Caskey, C. Thomas, Mitani, Kohnosuke

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Characterization of the human cysteinyl leukotriene CysLT1 receptor von Lynch, Kevin R., O'Neill, Gary P., Liu, Qingyun, Im, Dong-Soon, Sawyer, Nicole, Metters, Kathleen M., Coulombe, Nathalie, Abramovitz, Mark, Figueroa, David J., Zeng, Zhizhen, Connolly, Brett M., Bai, Chang, Austin, Christopher P., Chateauneuf, Anne, Stocco, Rino, Greig, Gillian M., Kargman, Stacia, Hooks, Shelley B., Hosfield, Elizabeth, Williams, David L., Ford-Hutchinson, Anthony W., Caskey, C. Thomas, Evans, Jilly F.

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