Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study

Autor: Niu, Xin, Amendola, Laura M., Hart, Ragan, Bennette, Caroline S., Heagerty, Patrick, Horike-Pyne, Martha, Trinidad, Susan B., Rosenthal, Elisabeth A., Comstock, Bryan, Nefcy, Chris, Hisama, Fuki M., Bennett, Robin L., Grady, William M., Gallego, Carlos J., Tarczy-Hornoch, Peter, Fullerton, Stephanie M., Burke, Wylie, Regier, Dean A., Dorschner, Michael O., Shirts, Brian H., Robertson, Peggy D., Nickerson, Deborah A., Patrick, Donald L., Jarvik, Gail P., Veenstra, David L.

Publikováno v: In Contemporary Clinical Trials September 2019 84

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Autor: Bamshad, Michael J., Leal, Suzanne M., Nickerson, Deborah A., Anderson, Peter, Annable, Marcus, Blue, Elizabeth Marchani, Buckingham, Kati J., Chin, Jennifer, Chong, Jessica X., Cornejo, Rodolfo, Jr., Davis, Colleen P., Frazar, Christopher, He, Zongxiao, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Kolar, Tom, Krauter, Stephanie A., Luksic, Daniel, Marvin, Colby T., McGee, Sean, McGoldrick, Daniel J., Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Robertson, Peggy D., Santos-Cortez, Regie, Shankar, Aditi, Slattery, Krystal, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Tackett, Monica, Wang, Gao, Wegener, Marc, Weiss, Jeffrey M., Wernick, Riana I., Wheeler, Marsha M., Yi, Qian, Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, Hogarth, Penelope, Nance, Martha A., Shalva, Nechama, Veber, Alvit, Tzadok, Michal, Nissenkorn, Andreea, Tonduti, Davide, Renaldo, Florence, Kraoua, Ichraf, Panteghini, Celeste, Valletta, Lorella, Garavaglia, Barbara, Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Silberstein, Jonathon M., Hoffmann, Chen, Raas-Rothschild, Annick, Tiranti, Valeria, Anikster, Yair, Christodoulou, John, Kastaniotis, Alexander J., Ben-Zeev, Bruria, Hayflick, Susan J.

Publikováno v: In The American Journal of Human Genetics 1 December 2016 99(6):1229-1244

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. 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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

Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL

Autor: Kim, Daniel S. ^{*, †}, Burt, Amber A. ^*, Crosslin, David R. ^{*, †}, Robertson, Peggy D. ^†, Ranchalis, Jane E. ^*, Boyko, Edward J. ^§, Nickerson, Deborah A. ^†, Furlong, Clement E. ^{*, †}, Jarvik, Gail P. ^{*, †}

Publikováno v: In Journal of Lipid Research February 2013 54(2):552-560

Rare loss of function variants in candidate genes and risk of colorectal cancer

Autor: Rosenthal, Elisabeth A., Shirts, Brian H., Amendola, Laura M., Horike-Pyne, Martha, Robertson, Peggy D., Hisama, Fuki M., Bennett, Robin L., Dorschner, Michael O., Nickerson, Deborah A., Stanaway, Ian B., Nassir, Rami, Vickers, Kathy T., Li, Christopher, Grady, William M., Peters, Ulrike, Jarvik, Gail P., NHLBI GO Exome Sequencing Project

Publikováno v: Human genetics, vol 137, iss 10

Although ~ 25% of colorectal cancer or polyp (CRC/P) cases show familial aggregation, current germline genetic testing identifies a causal genotype in the 16 major genes associated with high penetrance CRC/P in only 20% of these cases. As there are l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::14fccf19741a72f4ece54dc345eee487
https://escholarship.org/uc/item/23p7p5p8