Building a family network from genetic testing

por Leppig, Kathleen A., Thiese, Heidi A., Carrel, David, Crosslin, David R., Dorschner, Michael O., Gordon, Adam S., Hartzler, Andrea, Ralston, James, Scrol, Aaron, Larson, Eric B., Jarvik, Gail P.
Publicado 2016

Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer’s Disease Brain

por Korvatska, Olena, Kiianitsa, Kostantin, Ratushny, Alexander, Matsushita, Mark, Beeman, Neal, Chien, Wei-Ming, Satoh, Jun-Ichi, Dorschner, Michael O., Keene, C. Dirk, Bammler, Theo K., Bird, Thomas D., Raskind, Wendy H.
Publicado 2020

Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

por Kauffman, Tia L., Wilfond, Benjamin S., Jarvik, Gail P., Leo, Michael C., Lynch, Frances L., Reiss, Jacob A., Richards, C. Sue, McMullen, Carmit, Nickerson, Deborah, Dorschner, Michael O., Goddard, Katrina A.B.
Publicado 2016

Comprehensive statistical inference of the clonal structure of cancer from multiple biopsies

por Liu, Jie, Halloran, John T., Bilmes, Jeffrey A., Daza, Riza M., Lee, Choli, Mahen, Elisabeth M., Prunkard, Donna, Song, Chaozhong, Blau, Sibel, Dorschner, Michael O., Gadi, Vijayakrishna K., Shendure, Jay, Blau, C. Anthony, Noble, William S.
Publicado 2017

Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds

por Parada, Carolina A., El‐Ghazali, Fatima M., Toglia, Daphne, Ruzevick, Jacob, McAvoy, Malia, Emerson, Samuel, Karasozen, Yigit, Busald, Tina, Nazem, Ahmad A., Suranowitz, Shaun M., Shalhub, Sherene, Marshall, Desiree A., Gonzalez‐Cuyar, Luis F., Dorschner, Michael O., Ferreira, Manuel
Publicado 2022

Homozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body‐like Pathology in Parrots

por Lorenzo‐Betancor, Oswaldo, Galosi, Livio, Bonfili, Laura, Eleuteri, Anna Maria, Cecarini, Valentina, Verin, Ranieri, Dini, Fabrizio, Attili, Anna‐Rita, Berardi, Sara, Biagini, Lucia, Robino, Patrizia, Stella, Maria Cristina, Yearout, Dora, Dorschner, Michael O., Tsuang, Debby W., Rossi, Giacomo, Zabetian, Cyrus P.
Publicado 2022

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

por Himes, Patricia, Kauffman, Tia L., Muessig, Kristin R., Amendola, Laura M., Berg, Jonathan S., Dorschner, Michael O., Gilmore, Marian, Nickerson, Deborah A., Reiss, Jacob A., Richards, C. Sue, Rope, Alan F., Simpson, Dana K., Wilfond, Benjamin S., Jarvik, Gail P., Goddard, Katrina A.B.
Publicado 2017

Safety, Feasibility, and Merits of Longitudinal Molecular Testing of Multiple Metastatic Sites to Inform mTNBC Patient Treatment in the Intensive Trial of Omics in Cancer

por Burton, Kimberly A., Mahen, Elisabeth, Konnick, Eric Quentin, Blau, Sibel, Dorschner, Michael O., Ramirez, Arturo B., Schmechel, Stephen C., Song, Chaozhong, Parulkar, Rahul, Parker, Stephanie, Senecal, Francis Mark, Pritchard, Colin C., Mecham, Brigham H., Szeto, Christopher, Spilman, Patricia, Zhu, Jingchun, Gadi, Vijayakrishna K., Ronen, Roy, Stilwell, Jackie, Kaldjian, Eric, Dutkowski, Janusz, Benz, Stephen Charles, Rabizadeh, Shahrooz, Soon-Shiong, Patrick, Blau, C. Anthony
Publicado 2022

The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease

por Mata, Ignacio F., Jang, Yongwoo, Kim, Chun-Hyung, Hanna, David S., Dorschner, Michael O., Samii, Ali, Agarwal, Pinky, Roberts, John W., Klepitskaya, Olga, Shprecher, David R., Chung, Kathryn A., Factor, Stewart A., Espay, Alberto J., Revilla, Fredy J., Higgins, Donald S., Litvan, Irene, Leverenz, James B., Yearout, Dora, Inca-Martinez, Miguel, Martinez, Erica, Thompson, Tiffany R., Cholerton, Brenna A., Hu, Shu-Ching, Edwards, Karen L., Kim, Kwang-Soo, Zabetian, Cyrus P.
Publicado 2015

Alternative splicing in a presenilin 2 variant associated with Alzheimer disease

por Braggin, Jacquelyn E., Bucks, Stephanie A., Course, Meredith M., Smith, Carole L., Sopher, Bryce, Osnis, Leah, Shuey, Kiel D., Domoto‐Reilly, Kimiko, Caso, Christina, Kinoshita, Chizuru, Scherpelz, Kathryn P., Cross, Chloe, Grabowski, Thomas, Nik, Seyyed H. M., Newman, Morgan, Garden, Gwenn A., Leverenz, James B., Tsuang, Debby, Latimer, Caitlin, Gonzalez‐Cuyar, Luis F., Keene, Christopher Dirk, Morrison, Richard S., Rhoads, Kristoffer, Wijsman, Ellen M., Dorschner, Michael O., Lardelli, Michael, Young, Jessica E., Valdmanis, Paul N., Bird, Thomas D., Jayadev, Suman
Publicado 2019

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across ten centers

por Sanghvi, Rashesh V., Buhay, Christian J., Powell, Bradford C., Tsai, Ellen A., Dorschner, Michael O., Hong, Celine S., Lebo, Matthew S., Sasson, Ariella, Hanna, David S., McGee, Sean, Bowling, Kevin M., Cooper, Gregory M., Gray, David E., Lonigro, Robert J., Dunford, Andrew, Brennan, Christine A., Cibulskis, Carrie, Walker, Kimberly, Carneiro, Mauricio O., Sailsbery, Joshua, Hindorff, Lucia A., Robinson, Dan R., Santani, Avni, Sarmady, Mahdi, Rehm, Heidi L., Biesecker, Leslie G., Nickerson, Deborah A., Hutter, Carolyn M., Garraway, Levi, Muzny, Donna M., Wagle, Nikhil
Publicado 2017

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

por Carvill, Gemma L., Heavin, Sinéad B., Yendle, Simone C., McMahon, Jacinta M., O’Roak, Brian J., Cook, Joseph, Khan, Adiba, Dorschner, Michael O, Weaver, Molly, Calvert, Sophie, Malone, Stephen, Wallace, Geoffrey, Stanley, Thorsten, Bye, Ann M. E., Bleasel, Andrew, Howell, Katherine B., Kivity, Sara, Mackay, Mark T., Rodriguez-Casero, Victoria, Webster, Richard, Korczyn, Amos, Afawi, Zaid, Zelnick, Nathanel, Lerman-Sagie, Tally, Lev, Dorit, Møller, Rikke S., Gill, Deepak, Andrade, Danielle M., Freeman, Jeremy L., Sadleir, Lynette G., Shendure, Jay, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.
Publicado 2013

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

por O’Daniel, Julianne M., McLaughlin, Heather M., Amendola, Laura M., Bale, Sherri J., Berg, Jonathan S., Bick, David, Bowling, Kevin M., Chao, Elizabeth C., Chung, Wendy K., Conlin, Laura K., Cooper, Gregory M., Das, Soma, Deignan, Joshua L., Dorschner, Michael O., Evans, James P., Ghazani, Arezou A., Goddard, Katrina A., Gornick, Michele, Farwell Hagman, Kelly D., Hambuch, Tina, Hegde, Madhuri, Hindorff, Lucia A., Holm, Ingrid A., Jarvik, Gail P., Johnson, Amy Knight, Mighion, Lindsey, Morra, Massimo, Plon, Sharon E., Punj, Sumit, Richards, C. Sue, Santani, Avni, Shirts, Brian H., Spinner, Nancy B., Tang, Sha, Weck, Karen E., Wolf, Susan M., Yang, Yaping, Rehm, Heidi L.
Publicado 2016

The accessible chromatin landscape of the human genome

por Thurman, Robert E., Rynes, Eric, Humbert, Richard, Vierstra, Jeff, Maurano, Matthew T., Haugen, Eric, Sheffield, Nathan C., Stergachis, Andrew B., Wang, Hao, Vernot, Benjamin, Garg, Kavita, Sandstrom, Richard, Bates, Daniel, Canfield, Theresa K., Diegel, Morgan, Dunn, Douglas, Ebersol, Abigail K., Frum, Tristan, Giste, Erika, Harding, Lisa, Johnson, Audra K., Johnson, Ericka M., Kutyavin, Tanya, Lajoie, Bryan, Lee, Bum-Kyu, Lee, Kristen, London, Darin, Lotakis, Dimitra, Neph, Shane, Neri, Fidencio, Nguyen, Eric D., Reynolds, Alex P., Roach, Vaughn, Safi, Alexias, Sanchez, Minerva E., Sanyal, Amartya, Shafer, Anthony, Simon, Jeremy M., Song, Lingyun, Vong, Shinny, Weaver, Molly, Zhang, Zhancheng, Zhang, Zhuzhu, Lenhard, Boris, Tewari, Muneesh, Dorschner, Michael O., Hansen, R. Scott, Navas, Patrick A., Stamatoyannopoulos, George, Iyer, Vishwanath R., Lieb, Jason D., Sunyaev, Shamil R., Akey, Joshua M., Sabo, Peter J., Kaul, Rajinder, Furey, Terrence S., Dekker, Job, Crawford, Gregory E., Stamatoyannopoulos, John A.
Publicado 2012

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