Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk

por 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
Publicado 2019

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
Publicado 2013

Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy

por 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
Publicado 2018

Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes

por 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
Publicado 2017

Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium

por 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.
Publicado 2019

An unsupervised learning approach to identify novel signatures of health and disease from multimodal data

por 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
Publicado 2020

Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults

por 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
Publicado 2018

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging

por 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
Publicado 2020

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
Publicado 2014