検索結果 - Gonzalez-Garay, Manuel L

The road from next-generation sequencing to personalized medicine 著者: Gonzalez-Garay, Manuel L.

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

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Diversity in the pre-immune immunoglobulin repertoire of SHR lines susceptible and resistant to end organ injury 著者: Gonzalez-Garay, Manuel L., Cranford, Stacy M., Braun, Michael C., Doris, Peter A.

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Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract 著者: Messina-Baas, Olga, Gonzalez-Garay, Manuel L., González-Huerta, Luz M., Toral-López, Jaime, Cuevas-Covarrubias, Sergio A.

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Defective Store-Operated Calcium Entry Causes Partial Nephrogenic Diabetes Insipidus 著者: Mamenko, Mykola, Dhande, Isha, Tomilin, Viktor, Zaika, Oleg, Boukelmoune, Nabila, Zhu, Yaming, Gonzalez-Garay, Manuel L., Pochynyuk, Oleh, Doris, Peter A.

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Hypertensive Renal Injury Is Associated with Gene Variation Affecting Immune Signaling 著者: Braun, Michael C., Herring, Stacy M., Gokul, Nisha, Monita, Monique, Bell, Rebecca, Zhu, Yaming, Gonzalez-Garay, Manuel L., Wenderfer, Scott E., Doris, Peter A.

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Differential transcriptomics in sarcoidosis lung and lymph node granulomas with comparisons to pathogen-specific granulomas 著者: Casanova, Nancy G., Gonzalez-Garay, Manuel L., Sun, Belinda, Bime, Christian, Sun, Xiaoguang, Knox, Kenneth S., Crouser, Elliott D., Sammani, Nora, Gonzales, Taylor, Natt, Bhupinder, Chaudhary, Sachin, Lussier, Yves, Garcia, Joe G. N.

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Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man 著者: Burrows, Patricia E., Gonzalez-Garay, Manuel L., Rasmussen, John C., Aldrich, Melissa B., Guilliod, Renie, Maus, Erik A., Fife, Caroline E., Kwon, Sunkuk, Lapinski, Philip E., King, Philip D., Sevick-Muraca, Eva M.

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Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism 著者: 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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Evidence for SH2 Domain-Containing 5′-Inositol Phosphatase-2 (SHIP2) Contributing to a Lymphatic Dysfunction 著者: Agollah, Germaine D., Gonzalez-Garay, Manuel L., Rasmussen, John C., Tan, I-Chih, Aldrich, Melissa B., Darne, Chinmay, Fife, Caroline E., Guilliod, Renie, Maus, Erik A., King, Philip D., Sevick-Muraca, Eva M.

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Plasma metabolomic profiles enhance precision medicine for volunteers of normal health 著者: 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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Targeted Correction and Restored Function of the CFTR Gene in Cystic Fibrosis Induced Pluripotent Stem Cells 著者: Crane, Ana M., Kramer, Philipp, Bui, Jacquelin H., Chung, Wook Joon, Li, Xuan Shirley, Gonzalez-Garay, Manuel L., Hawkins, Finn, Liao, Wei, Mora, Daniela, Choi, Sangbum, Wang, Jianbin, Sun, Helena C., Paschon, David E., Guschin, Dmitry Y., Gregory, Philip D., Kotton, Darrell N., Holmes, Michael C., Sorscher, Eric J., Davis, Brian R.

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Low Dose Carbon Monoxide Exposure in Idiopathic Pulmonary Fibrosis Produces a CO Signature Comprised of Oxidative Phosphorylation Genes 著者: Casanova, Nancy, Zhou, Tong, Gonzalez-Garay, Manuel L., Rosas, Ivan O., Goldberg, Hilary J., Ryter, Stefan W., Collard, Harold R., El-Chemaly, Souheil, Flaherty, Kevin R., Hunninghake, Gary M., Lasky, Joseph A., Lederer, David J., Machado, Roberto F., Martinez, Fernando J., Noth, Imre, Raghu, Ganesh, Choi, Augustine M. K., Garcia, Joe G. N.

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Somatic mutations affect key pathways in lung adenocarcinoma 著者: Ding, Li, Getz, Gad, Wheeler, David A., Mardis, Elaine R., McLellan, Michael D., Cibulskis, Kristian, Sougnez, Carrie, Greulich, Heidi, Muzny, Donna M., Morgan, Margaret B., Fulton, Lucinda, Fulton, Robert S., Zhang, Qunyuan, Wendl, Michael C., Lawrence, Michael S., Larson, David E., Chen, Ken, Dooling, David J., Sabo, Aniko, Hawes, Alicia C., Shen, Hua, Jhangiani, Shalini N., Lewis, Lora R., Hall, Otis, Zhu, Yiming, Mathew, Tittu, Ren, Yanru, Yao, Jiqiang, Scherer, Steven E., Clerc, Kerstin, Metcalf, Ginger A., Ng, Brian, Milosavljevic, Aleksandar, Gonzalez-Garay, Manuel L., Osborne, John R., Meyer, Rick, Shi, Xiaoqi, Tang, Yuzhu, Koboldt, Daniel C., Lin, Ling, Abbott, Rachel, Miner, Tracie L., Pohl, Craig, Fewell, Ginger, Haipek, Carrie, Schmidt, Heather, Dunford-Shore, Brian H., Kraja, Aldi, Crosby, Seth D., Sawyer, Christopher S., Vickery, Tammi, Sander, Sacha, Robinson, Jody, Winckler, Wendy, Baldwin, Jennifer, Chirieac, Lucian R., Dutt, Amit, Fennell, Tim, Hanna, Megan, Johnson, Bruce E., Onofrio, Robert C., Thomas, Roman K., Tonon, Giovanni, Weir, Barbara A., Zhao, Xiaojun, Ziaugra, Liuda, Zody, Michael C., Giordano, Thomas, Orringer, Mark B., Roth, Jack A., Spitz, Margaret R., Wistuba, Ignacio I., Ozenberger, Bradley, Good, Peter J., Chang, Andrew C., Beer, David G., Watson, Mark A., Ladanyi, Marc, Broderick, Stephen, Yoshizawa, Akihiko, Travis, William D., Pao, William, Province, Michael A., Weinstock, George M., Varmus, Harold E., Gabriel, Stacey B., Lander, Eric S., Gibbs, Richard A., Meyerson, Matthew, Wilson, Richard K.

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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge 著者: Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M

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