Detection of structural variants and indels within exome data

por Karakoc, Emre, Alkan, Can, O’Roak, Brian J., Dennis, Megan, Vives, Laura, Mark, Kenneth, Rieder, Mark J., Nickerson, Debbie A., Eichler, Evan E.
Publicado 2011

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

por Emond, Mary J., Louie, Tin, Emerson, Julia, Chong, Jessica X., Mathias, Rasika A., Knowles, Michael R., Rieder, Mark J., Tabor, Holly K., Nickerson, Debbie A., Barnes, Kathleen C., GO, Lung, Gibson, Ronald L., Bamshad, Michael J.
Publicado 2015

Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

por Emond, Mary J., Louie, Tin, Emerson, Julia, Chong, Jessica X., Mathias, Rasika A., Knowles, Michael R., Rieder, Mark J., Tabor, Holly K., Nickerson, Debbie A., Barnes, Kathleen C., GO, Lung, Gibson, Ronald L., Bamshad, Michael J.
Publicado 2015

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

por Emond, Mary J, Louie, Tin, Emerson, Julia, Zhao, Wei, Mathias, Rasika A., Knowles, Michael R., Wright, Fred A., Rieder, Mark J., Tabor, Holly K., Nickerson, Debbie A., Barnes, Kathleen C., GO, Lung, Gibson, Ronald L., Bamshad, Michael J.
Publicado 2012

Genome-Wide Association Study Identifies Genetic Loci Associated with Iron Deficiency

por McLaren, Christine E., Garner, Chad P., Constantine, Clare C., McLachlan, Stela, Vulpe, Chris D., Snively, Beverly M., Gordeuk, Victor R., Nickerson, Debbie A., Cook, James D., Leiendecker-Foster, Catherine, Beckman, Kenneth B., Eckfeldt, John H., Barcellos, Lisa F., Murray, Joseph A., Adams, Paul C., Acton, Ronald T., Killeen, Anthony A., McLaren, Gordon D.
Publicado 2011

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

por Amendola, Laura M., Dorschner, Michael O., Robertson, Peggy D., Salama, Joseph S., Hart, Ragan, Shirts, Brian H., Murray, Mitzi L., Tokita, Mari J., Gallego, Carlos J., Kim, Daniel Seung, Bennett, James T., Crosslin, David R., Ranchalis, Jane, Jones, Kelly L., Rosenthal, Elisabeth A., Jarvik, Ella R., Itsara, Andy, Turner, Emily H., Herman, Daniel S., Schleit, Jennifer, Burt, Amber, Jamal, Seema M., Abrudan, Jenica L., Johnson, Andrew D., Conlin, Laura K., Dulik, Matthew C., Santani, Avni, Metterville, Danielle R., Kelly, Melissa, Foreman, Ann Katherine M., Lee, Kristy, Taylor, Kent D., Guo, Xiuqing, Crooks, Kristy, Kiedrowski, Lesli A., Raffel, Leslie J., Gordon, Ora, Machini, Kalotina, Desnick, Robert J., Biesecker, Leslie G., Lubitz, Steven A., Mulchandani, Surabhi, Cooper, Greg M., Joffe, Steven, Richards, C. Sue, Yang, Yaoping, Rotter, Jerome I., Rich, Stephen S., O’Donnell, Christopher J., Berg, Jonathan S., Spinner, Nancy B., Evans, James P., Fullerton, Stephanie M., Leppig, Kathleen A., Bennett, Robin L., Bird, Thomas, Sybert, Virginia P., Grady, William M., Tabor, Holly K., Kim, Jerry H., Bamshad, Michael J., Wilfond, Benjamin, Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom D., Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Rehm, Heidi, Nickerson, Debbie A., Jarvik, Gail P.
Publicado 2015