Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

Autor: Gabriel, Stacey B., Altshuler, David M., Abecasis, Gonçalo R., Allayee, Hooman, Cresci, Sharon, Daly, Mark J., de Bakker, Paul I.W., DePristo, Mark A., Do, Ron, Donnelly, Peter, Farlow, Deborah N., Fennell, Tim, Garimella, Kiran, Hazen, Stanley L., Hu, Youna, Jordan, Daniel M., Jun, Goo, Kathiresan, Sekar, Kang, Hyun Min, Kiezun, Adam, Lettre, Guillaume, Li, Bingshan, Li, Mingyao, Newton-Cheh, Christopher H., Padmanabhan, Sandosh, Peloso, Gina, Pulit, Sara, Rader, Daniel J., Reich, David, Reilly, Muredach P., Rivas, Manuel A., Schwartz, Steve, Scott, Laura, Siscovick, David S., Spertus, John A., Stitziel, Nathaniel O., Stoletzki, Nina, Sunyaev, Shamil R., Voight, Benjamin F., Willer, Cristen J., Rich, Stephen S., Akylbekova, Ermeg, Atwood, Larry D., Ballantyne, Christie M., Barbalic, Maja, Barr, R. Graham, Benjamin, Emelia J., Bis, Joshua, Boerwinkle, Eric, Bowden, Donald W., Brody, Jennifer, Budoff, Matthew, Burke, Greg, Buxbaum, Sarah, Carr, Jeff, Chen, Donna T., Chen, Ida Y., Chen, Wei-Min, Concannon, Pat, Crosby, Jacy, Cupples, L. Adrienne, D’Agostino, Ralph, DeStefano, Anita L., Dreisbach, Albert, Dupuis, Josée, Durda, J. Peter, Ellis, Jaclyn, Folsom, Aaron R., Fornage, Myriam, Fox, Caroline S., Fox, Ervin, Funari, Vincent, Ganesh, Santhi K., Gardin, Julius, Goff, David, Gordon, Ora, Grody, Wayne, Gross, Myron, Guo, Xiuqing, Hall, Ira M., Heard-Costa, Nancy L., Heckbert, Susan R., Heintz, Nicholas, Herrington, David M., Hickson, DeMarc, Huang, Jie, Hwang, Shih-Jen, Jacobs, David R., Jenny, Nancy S., Johnson, Andrew D., Johnson, Craig W., Kawut, Steven, Kronmal, Richard, Kurz, Raluca, Lange, Ethan M., Lange, Leslie A., Larson, Martin G., Lawson, Mark, Lewis, Cora E., Levy, Daniel, Li, Dalin, Lin, Honghuang, Liu, Chunyu, Liu, Jiankang, Liu, Kiang, Liu, Xiaoming, Liu, Yongmei, Longstreth, William T., Loria, Cay, Lumley, Thomas, Lunetta, Kathryn, Mackey, Aaron J., Mackey, Rachel, Manichaikul, Ani, Maxwell, Taylor, McKnight, Barbara, Meigs, James B., Morrison, Alanna C., Musani, Solomon K., Mychaleckyj, Josyf C., Nettleton, Jennifer A., North, Kari, O’Donnell, Christopher J., O’Leary, Daniel, Ong, Frank, Palmas, Walter, Pankow, James S., Pankratz, Nathan D., Paul, Shom, Perez, Marco, Person, Sharina D., Polak, Joseph, Post, Wendy S., Psaty, Bruce M., Quinlan, Aaron R., Raffel, Leslie J., Ramachandran, Vasan S., Reiner, Alexander P., Rice, Kenneth, Rotter, Jerome I., Sanders, Jill P., Schreiner, Pamela, Seshadri, Sudha, Shea, Steve, Sidney, Stephen, Silverstein, Kevin, Smith, Nicholas L., Sotoodehnia, Nona, Srinivasan, Asoke, Taylor, Herman A., Taylor, Kent, Thomas, Fridtjof, Tracy, Russell P., Tsai, Michael Y., Volcik, Kelly A., Wassel, Chrstina L., Watson, Karol, Wei, Gina, White, Wendy, Wiggins, Kerri L., Wilk, Jemma B., Williams, O. Dale, Wilson, Gregory, Wilson, James G., Wolf, Phillip, Zakai, Neil A., Hardy, John, Meschia, James F., Nalls, Michael, Singleton, Andrew, Worrall, Brad, Bamshad, Michael J., Barnes, Kathleen C., Abdulhamid, Ibrahim, Accurso, Frank, Anbar, Ran, Beaty, Terri, Bigham, Abigail, Black, Phillip, Bleecker, Eugene, Buckingham, Kati, Cairns, Anne Marie, Caplan, Daniel, Chatfield, Barbara, Chidekel, Aaron, Cho, Michael, Christiani, David C., Crapo, James D., Crouch, Julia, Daley, Denise, Dang, Anthony, Dang, Hong, De Paula, Alicia, DeCelie-Germana, Joan, Drumm, Allen DozorMitch, Dyson, Maynard, Emerson, Julia, Emond, Mary J., Ferkol, Thomas, Fink, Robert, Foster, Cassandra, Froh, Deborah, Gao, Li, Gershan, William, Gibson, Ronald L., Godwin, Elizabeth, Gondor, Magdalen, Gutierrez, Hector, Hansel, Nadia N., Hassoun, Paul M., Hiatt, Peter, Hokanson, John E., Howenstine, Michelle, Hummer, Laura K., Kanga, Jamshed, Kim, Yoonhee, Knowles, Michael R., Konstan, Michael, Lahiri, Thomas, Laird, Nan, Lange, Christoph, Lin, Lin, Lin, Xihong, Louie, Tin L., Lynch, David, Make, Barry, Martin, Thomas R., Mathai, Steve C., Mathias, Rasika A., McNamara, John, McNamara, Sharon, Meyers, Deborah, Millard, Susan, Mogayzel, Peter, Moss, Richard, Murray, Tanda, Nielson, Dennis, Noyes, Blakeslee, O’Neal, Wanda, Orenstein, David, O’Sullivan, Brian, Pace, Rhonda, Pare, Peter, Parker, H. Worth, Passero, Mary Ann, Perkett, Elizabeth, Prestridge, Adrienne, Rafaels, Nicholas M., Ramsey, Bonnie, Regan, Elizabeth, Ren, Clement, Retsch-Bogart, George, Rock, Michael, Rosen, Antony, Rosenfeld, Margaret, Ruczinski, Ingo, Sanford, Andrew, Schaeffer, David, Sell, Cindy, Sheehan, Daniel, Silverman, Edwin K., Sin, Don, Spencer, Terry, Stonebraker, Jackie, Tabor, Holly K., Varlotta, Laurie, Vergara, Candelaria I., Weiss, Robert, Wigley, Fred, Wise, Robert A., Wright, Fred A., Wurfel, Mark M., Zanni, Robert, Zou, Fei, Nickerson, Deborah A., Rieder, Mark J., Green, Phil, Shendure, Jay, Akey, Joshua M., Bustamante, Carlos D., Crosslin, David R., Eichler, Evan E., Fox, P. Keolu, Fu, Wenqing, Gordon, Adam, Gravel, Simon, Jarvik, Gail P., Johnsen, Jill M., Kan, Mengyuan, Kenny, Eimear E., Kidd, Jeffrey M., Lara-Garduno, Fremiet, Leal, Suzanne M., Liu, Dajiang J., McGee, Sean, O’Connor, Timothy D., Paeper, Bryan, Robertson, Peggy D., Smith, Joshua D., Staples, Jeffrey C., Tennessen, Jacob A., Turner, Emily H., Wang, Gao, Yi, Qian, Jackson, Rebecca, Peters, Ulrike, Carlson, Christopher S., Anderson, Garnet, Anton-Culver, Hoda, Assimes, Themistocles L., Auer, Paul L., Beresford, Shirley, Bizon, Chris, Black, Henry, Brunner, Robert, Brzyski, Robert, Burwen, Dale, Caan, Bette, Carty, Cara L., Chlebowski, Rowan, Cummings, Steven, Curb, J. David, Eaton, Charles B., Ford, Leslie, Franceschini, Nora, Fullerton, Stephanie M., Gass, Margery, Geller, Nancy, Heiss, Gerardo, Howard, Barbara V., Hsu, Li, Hutter, Carolyn M., Ioannidis, John, Jiao, Shuo, Johnson, Karen C., Kooperberg, Charles, Kuller, Lewis, LaCroix, Andrea, Lakshminarayan, Kamakshi, Lane, Dorothy, Lasser, Norman, LeBlanc, Erin, Li, Kuo-Ping, Limacher, Marian, Lin, Dan-Yu, Logsdon, Benjamin A., Ludlam, Shari, Manson, JoAnn E., Margolis, Karen, Martin, Lisa, McGowan, Joan, Monda, Keri L., Kotchen, Jane Morley, Nathan, Lauren, Ockene, Judith, O’Sullivan, Mary Jo, Phillips, Lawrence S., Prentice, Ross L., Robbins, John, Robinson, Jennifer G., Rossouw, Jacques E., Sangi-Haghpeykar, Haleh, Sarto, Gloria E., Shumaker, Sally, Simon, Michael S., Stefanick, Marcia L., Stein, Evan, Tang, Hua, Taylor, Kira C., Thomson, Cynthia A., Thornton, Timothy A., Van Horn, Linda, Vitolins, Mara, Wactawski-Wende, Jean, Wallace, Robert, Wassertheil-Smoller, Sylvia, Zeng, Donglin, Applebaum-Bowden, Deborah, Feolo, Michael, Gan, Weiniu, Paltoo, Dina N., Sholinsky, Phyliss, Sturcke, Anne, Zhang, He, Xue, Chenyi, Schmidt, Ellen M., Tang, Zheng-Zheng, Auer, Paul, Li, Kuo-ping, Flannick, Jason, Zhang, Ji, Fuchsberger, Christian, Gaulton, Kyle, Lindgren, Cecilia, Locke, Adam, Manning, Alisa, Sim, Xueling, Holmen, Oddgeir L., Gottesman, Omri, Lu, Yingchang, Ruderfer, Douglas, Stahl, Eli A., Duan, Qing, Li, Yun, Durda, Peter, Isaacs, Aaron, Hofman, Albert, Bis, Joshua C., Correa, Adolfo, Griswold, Michael E., Jakobsdottir, Johanna, Smith, Albert V., Schreiner, Pamela J., Feitosa, Mary F., Zhang, Qunyuan, Huffman, Jennifer E., Wassel, Christina L., Martin, Lisa W., Rosenthal, Elisabeth A., Tsai, Michael, Fox, Ervin R., Jackson, Rebecca D., van Duijn, Cornelia M., Uitterlinden, André G., Gudnason, Vilmundur, Jr., Borecki, Ingrid B., Hayward, Caroline, Rudan, Igor, Chen, Y. Eugene, Bottinger, Erwin P., Loos, Ruth J.F., Sætrom, Pål, Hveem, Kristian, Boehnke, Michael, Groop, Leif, McCarthy, Mark, Meitinger, Thomas, North, Kari E., Altshuler, David, Abecasis, Goncalo R.

Publikováno v: In The American Journal of Human Genetics 6 February 2014 94(2):233-245

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The Scleroderma Patient-Centered Intervention Network Self-Management Program: Protocol for a Randomized Feasibility Trial

Autor: Carrier, Marie-Eve, Kwakkenbos, Linda, Nielson, Warren R, Fedoruk, Claire, Nielsen, Karen, Milette, Katherine, Pope, Janet, Frech, Tracy, Gholizadeh, Shadi, Hummers, Laura, Johnson, Sindhu R, Piotrowski, Pamela, Jewett, Lisa, Gordon, Jessica, Chung, Lorinda, Bilsker, Dan, Turner, Kimberly A, Cumin, Julie, Welling, Joep, Fortune, Catherine, Leite, Catarina, Gottesman, Karen, Sauve, Maureen, Rodríguez-Reyna, Tatiana S, Hudson, Marie, Larche, Maggie, van Breda, Ward, Suarez-Almazor, Maria E, Bartlett, Susan J, Malcarne, Vanessa L, Mayes, Maureen D, Boutron, Isabelle, Mouthon, Luc, Wigley, Fredrick, Thombs, Brett D

Publikováno v: JMIR Research Protocols, Vol 9, Iss 4, p e16799 (2020)

BackgroundSystemic sclerosis (SSc), or scleroderma, is a rare disease that often results in significant disruptions to activities of daily living and can negatively affect physical and psychological well-being. Because there is no known cure, SSc tre

Externí odkaz: https://doaj.org/article/4d361638a1064ae69d44627a153c54dc

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