Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging
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
Published in Proceedings of the National Academy of Sciences - PNAS (11.02.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (11.02.2020)
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Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk
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
Published in Cell metabolism (05.02.2019)
Published in Cell metabolism (05.02.2019)
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An extra-uterine system to physiologically support the extreme premature lamb
Partridge, Emily A., Davey, Marcus G., Hornick, Matthew A., McGovern, Patrick E., Mejaddam, Ali Y., Vrecenak, Jesse D., Mesas-Burgos, Carmen, Olive, Aliza, Caskey, Robert C., Weiland, Theodore R., Han, Jiancheng, Schupper, Alexander J., Connelly, James T., Dysart, Kevin C., Rychik, Jack, Hedrick, Holly L., Peranteau, William H., Flake, Alan W.
Published in Nature communications (25.04.2017)
Published in Nature communications (25.04.2017)
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Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes
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
Published in American journal of human genetics (02.11.2017)
Published in American journal of human genetics (02.11.2017)
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Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites
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
Published in Nature genetics (01.04.2017)
Published in Nature genetics (01.04.2017)
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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
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
Published in Nature genetics (01.11.2013)
Published in Nature genetics (01.11.2013)
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Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy
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
Published in Nature communications (08.03.2018)
Published in Nature communications (08.03.2018)
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Non-invasive transcranial ultrasound stimulation for neuromodulation
Darmani, G., Bergmann, T.O., Butts Pauly, K., Caskey, C.F., de Lecea, L., Fomenko, A., Fouragnan, E., Legon, W., Murphy, K.R., Nandi, T., Phipps, M.A., Pinton, G., Ramezanpour, H., Sallet, J., Yaakub, S.N., Yoo, S.S., Chen, R.
Published in Clinical neurophysiology (01.03.2022)
Published in Clinical neurophysiology (01.03.2022)
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Plasma metabolomic profiles enhance precision medicine for volunteers of normal health
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
Published in Proceedings of the National Academy of Sciences - PNAS (01.09.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (01.09.2015)
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Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults
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
Published in Proceedings of the National Academy of Sciences - PNAS (03.04.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (03.04.2018)
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Personalized genomic disease risk of volunteers
Gonzalez-Garay, Manuel L., McGuire, Amy L., Pereira, Stacey, Caskey, C. Thomas
Published in Proceedings of the National Academy of Sciences - PNAS (15.10.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (15.10.2013)
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Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium
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
Published in Genome medicine (27.02.2019)
Published in Genome medicine (27.02.2019)
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An unsupervised learning approach to identify novel signatures of health and disease from multimodal data
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
Published in Genome medicine (10.01.2020)
Published in Genome medicine (10.01.2020)
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The RNA code: Nature’s Rosetta Stone
Caskey, C Thomas, Leder, Philip
Published in Proceedings of the National Academy of Sciences - PNAS (22.04.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (22.04.2014)
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Response to Whiffin et al
Shah, Naisha, Claire Hou, Ying-Chen, Yu, Hung-Chun, Sainger, Rachana, Caskey, C Thomas, Venter, J Craig, Telenti, Amalio
Published in American journal of human genetics (03.01.2019)
Published in American journal of human genetics (03.01.2019)
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Characterization of the human cysteinyl leukotriene CysLT1 receptor
LYNCH, K. R, O'NEILL, G. P, CONNOLLY, B. M, CHANG BAI, AUSTIN, C. P, CHATEAUNEUF, A, STOCCO, R, GREIG, G. M, KARGMAN, S, HOOKS, S. B, HOSFIELD, E, WILLIAMS, D. L, QINGYUN LIU, FORD-HUTCHINSON, A. W, CASKEY, C. T, EVANS, J. F, IM, D.-S, SAWYER, N, METTERS, K. M, COULOMBE, N, ABRAMOVITZ, M, FIGUEROA, D. J, ZHIZHEN ZENG
Published in Nature (London) (24.06.1999)
Published in Nature (London) (24.06.1999)
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