檢索結果 - Gonzalez-Garay, Manuel L

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

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Personalized genomic disease risk of volunteers 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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