Resultados da busca - Gonzalez-Garay, Manuel L

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

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Personalized genomic disease risk of volunteers por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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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