A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration

por Sivakumaran, Theru A., Igo, Robert P., Kidd, Jeffrey M., Itsara, Andy, Kopplin, Laura J., Chen, Wei, Hagstrom, Stephanie A., Peachey, Neal S., Francis, Peter J., Klein, Michael L., Chew, Emily Y., Ramprasad, Vedam L., Tay, Wan-Ting, Mitchell, Paul, Seielstad, Mark, Stambolian, Dwight E., Edwards, Albert O., Lee, Kristine E., Leontiev, Dmitry V., Jun, Gyungah, Wang, Yang, Tian, Liping, Qiu, Feiyou, Henning, Alice K., LaFramboise, Thomas, Sen, Parveen, Aarthi, Manoharan, George, Ronnie, Raman, Rajiv, Das, Manmath Kumar, Vijaya, Lingam, Kumaramanickavel, Govindasamy, Wong, Tien Y., Swaroop, Anand, Abecasis, Goncalo R., Klein, Ronald, Klein, Barbara E. K., Nickerson, Deborah A., Eichler, Evan E., Iyengar, Sudha K.
Publicado 2011

Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration

por Sivakumaran, Theru A., Igo, Robert P., Kidd, Jeffrey M., Itsara, Andy, Kopplin, Laura J., Chen, Wei, Hagstrom, Stephanie A., Peachey, Neal S., Francis, Peter J., Klein, Michael L., Chew, Emily Y., Ramprasad, Vedam L., Tay, Wan-Ting, Mitchell, Paul, Seielstad, Mark, Stambolian, Dwight E., Edwards, Albert O., Lee, Kristine E., Leontiev, Dmitry V., Jun, Gyungah, Wang, Yang, Tian, Liping, Qiu, Feiyou, Henning, Alice K., LaFramboise, Thomas, Sen, Parveen, Aarthi, Manoharan, George, Ronnie, Raman, Rajiv, Das, Manmath Kumar, Vijaya, Lingam, Kumaramanickavel, Govindasamy, Wong, Tien Y., Swaroop, Anand, Abecasis, Goncalo R., Klein, Ronald, Klein, Barbara E. K., Nickerson, Deborah A., Eichler, Evan E., Iyengar, Sudha K.
Publicado 2018

A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay

por Girirajan, Santhosh, Rosenfeld, Jill A., Cooper, Gregory M., Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E., Baker, Carl, Mefford, Heather C., Kidd, Jeffrey M., Browning, Sharon R., Browning, Brian L., Dickel, Diane E., Levy, Deborah L., Ballif, Blake C., Platky, Kathryn, Farber, Darren M., Gowans, Gordon C., Wetherbee, Jessica J., Asamoah, Alexander, Weaver, David D., Mark, Paul R., Dickerson, Jennifer, Garg, Bhuwan P., Ellingwood, Sara A., Smith, Rosemarie, Banks, Valerie C., Smith, Wendy, McDonald, Marie T., Hoo, Joe J., French, Beatrice N., Hudson, Cindy, Johnson, John P., Ozmore, Jillian R., Moeschler, John B., Surti, Urvashi, Escobar, Luis F., El-Kechen, Dima, Gorski, Jerome L., Kussman, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M., Zackai, Elaine H., Deardorff, Matthew A., Shaikh, Tamim H., Haan, Eric, Friend, Kathryn L., Fichera, Marco, Romano, Corrado, Gécz, Jozef, deLisi, Lynn E., Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G., Eichler, Evan E.
Publicado 2010

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