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Material Type: Artigo
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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imagingHou, 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. ThomasProceedings of the National Academy of Sciences - PNAS, 2020-02, Vol.117 (6), p.3053-3062 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Material Type: Artigo
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Identification of Misclassified ClinVar Variants via Disease Population PrevalenceShah, Naisha ; Hou, Ying-Chen Claire ; Yu, Hung-Chun ; Sainger, Rachana ; Caskey, C. Thomas ; Venter, J. Craig ; Telenti, AmalioAmerican journal of human genetics, 2018-04, Vol.102 (4), p.609-619 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autismSchaaf, 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, YapingNature genetics, 2013-11, Vol.45 (11), p.1405-1408 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole GenomesTang, 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, AmalioAmerican journal of human genetics, 2017-11, Vol.101 (5), p.700-715 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Plasma metabolomic profiles enhance precision medicine for volunteers of normal healthGuo, 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. ThomasProceedings of the National Academy of Sciences - PNAS, 2015-09, Vol.112 (35), p.E4901-E4910 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Material Type: Artigo
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Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adultsPerkins, 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. CraigProceedings of the National Academy of Sciences - PNAS, 2018-04, Vol.115 (14), p.3686-3691 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Material Type: Artigo
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2021 Allan AwardCaskey, C. ThomasAmerican journal of human genetics, 2022-03, Vol.109 (3), p.384-386 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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8 |
Material Type: Artigo
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Personalized genomic disease risk of volunteersGonzalez-Garay, Manuel L. ; McGuire, Amy L. ; Pereira, Stacey ; Caskey, C. ThomasProceedings of the National Academy of Sciences - PNAS, 2013-10, Vol.110 (42), p.16957-16962 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Material Type: Artigo
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The RNA code: Nature’s Rosetta StoneCaskey, C Thomas ; Leder, PhilipProceedings of the National Academy of Sciences - PNAS, 2014-04, Vol.111 (16), p.5758-5759 [Periódico revisado por pares]United States: National Acad SciencesTexto completo disponível |
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Material Type: Artigo
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Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolitesLong, 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, AmalioNature genetics, 2017-04, Vol.49 (4), p.568-578 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |