Bernoulli mixture models in application to the evaluation of algorithms estimating functionality of missense mutations

by Hicks, Stephanie, Plon, Sharon E, Kimmel, Marek
Published 2012

Defective mitochondrial peroxiredoxin-3 results in sensitivity to oxidative stress in Fanconi anemia

by Mukhopadhyay, Sudit S., Leung, Kathryn S., Hicks, M. John, Hastings, Philip J., Youssoufian, Hagop, Plon, Sharon E.
Published 2006

Experiences and Attitudes of Genome Investigators Regarding Return of Individual Genetic Test Results

by Ramoni, Rachel B., McGuire, Amy L., Robinson, Jill Oliver, Morley, Debra S., Plon, Sharon E., Joffe, Steven
Published 2013

ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data

by Rustagi, Navin, Hampton, Oliver A, Li, Jie, Xi, Liu, Gibbs, Richard A., Plon, Sharon E., Kimmel, Marek, Wheeler, David A.
Published 2016

SV-STAT accurately detects structural variation via alignment to reference-based assemblies

by Davis, Caleb F., Ritter, Deborah I., Wheeler, David A., Wang, Hongmei, Ding, Yan, Dugan, Shannon P., Bainbridge, Matthew N., Muzny, Donna M., Rao, Pulivarthi H., Man, Tsz-Kwong, Plon, Sharon E., Gibbs, Richard A., Lau, Ching C.
Published 2016

Identifying Gene Disruptions in Novel Balanced de novo Constitutional Translocations in Childhood Cancer Patients by Whole Genome Sequencing

by Ritter, Deborah I., Haines, Katherine, Cheung, Hannah, Davis, Caleb F., Lau, Ching C., Berg, Jonathan S., Brown, Chester W., Thompson, Patrick A., Gibbs, Richard, Wheeler, David A., Plon, Sharon E.
Published 2015

Family history of cancer and childhood rhabdomyosarcoma: a report from the Children's Oncology Group and the Utah Population Database

by Lupo, Philip J, Danysh, Heather E, Plon, Sharon E, Curtin, Karen, Malkin, David, Hettmer, Simone, Hawkins, Douglas S, Skapek, Stephen X, Spector, Logan G, Papworth, Karin, Melin, Beatrice, Erhardt, Erik B, Grufferman, Seymour, Schiffman, Joshua D
Published 2015

Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients

by Scollon, Sarah, Bergstrom, Katie, Kerstein, Robin A, Wang, Tao, Hilsenbeck, Susan G, Ramamurthy, Uma, Gibbs, Richard A, Eng, Christine M, Chintagumpala, Murali M, Berg, Stacey L, McCullough, Laurence B, McGuire, Amy L, Plon, Sharon E, Parsons, D Williams
Published 2014

Somatic cancer variant curation and harmonization through consensus minimum variant level data

by Ritter, Deborah I., Roychowdhury, Sameek, Roy, Angshumoy, Rao, Shruti, Landrum, Melissa J., Sonkin, Dmitriy, Shekar, Mamatha, Davis, Caleb F., Hart, Reece K., Micheel, Christine, Weaver, Meredith, Van Allen, Eliezer M., Parsons, Donald W., McLeod, Howard L., Watson, Michael S., Plon, Sharon E., Kulkarni, Shashikant, Madhavan, Subha
Published 2016

Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth vent...

by Lin, Frank Y., Bergstrom, Katie, Person, Richard, Bavle, Abhishek, Ballester, Leomar Y., Scollon, Sarah, Raesz-Martinez, Robin, Jea, Andrew, Birchansky, Sherri, Wheeler, David A., Berg, Stacey L., Chintagumpala, Murali M., Adesina, Adekunle M., Eng, Christine, Roy, Angshumoy, Plon, Sharon E., Parsons, D. Williams
Published 2016

Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients

by Posey, Jennifer E., Rosenfeld, Jill A., James, Regis A., Bainbridge, Matthew, Niu, Zhiyv, Wang, Xia, Dhar, Shweta, Wiszniewski, Wojciech, Akdemir, Zeynep H.C., Gambin, Tomasz, Xia, Fan, Person, Richard E., Walkiewicz, Magdalena, Shaw, Chad A., Sutton, V. Reid, Beaudet, Arthur L., Muzny, Donna, Eng, Christine M., Yang, Yaping, Gibbs, Richard A., Lupski, James R., Boerwinkle, Eric, Plon, Sharon E.
Published 2015

Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney

by Roy, Angshumoy, Kumar, Vijetha, Zorman, Barry, Fang, Erica, Haines, Katherine M., Doddapaneni, HarshaVardhan, Hampton, Oliver A., White, Simon, Bavle, Abhishek A., Patel, Nimesh R., Eldin, Karen W., John Hicks, M., Rakheja, Dinesh, Leavey, Patrick J., Skapek, Stephen X., Amatruda, James F., Nuchtern, Jed G., Chintagumpala, Murali M., Wheeler, David A., Plon, Sharon E., Sumazin, Pavel, Parsons, D. Williams
Published 2015

BCOR-CCNB3 Fusions Are Frequent in Undifferentiated Sarcomas of Male Children

by Peters, Tricia L., Kumar, Vijetha, Polikepahad, Sumanth, Lin, Frank Y., Sarabia, Stephen F., Liang, Yu, Wang, Wei-Lien, Lazar, Alexander J., Doddapaneni, Harsha Vardhan, Chao, Hsu, Muzny, Donna M., Wheeler, David A., Okcu, M. Fatih, Plon, Sharon E., Hicks, M. John, López-Terrada, Dolores, Parsons, D. Williams, Roy, Angshumoy
Published 2014

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

by Gomez-Ospina, Natalia, Potter, Carol J., Xiao, Rui, Manickam, Kandamurugu, Kim, Mi-Sun, Kim, Kang Ho, Shneider, Benjamin L., Picarsic, Jennifer L., Jacobson, Theodora A., Zhang, Jing, He, Weimin, Liu, Pengfei, Knisely, A. S., Finegold, Milton J., Muzny, Donna M., Boerwinkle, Eric, Lupski, James R., Plon, Sharon E., Gibbs, Richard A., Eng, Christine M., Yang, Yaping, Washington, Gabriel C., Porteus, Matthew H., Berquist, William E., Kambham, Neeraja, Singh, Ravinder J., Xia, Fan, Enns, Gregory M., Moore, David D.
Published 2016

Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium

by Jalali, Ali, Amirian, E. Susan, Bainbridge, Matthew N., Armstrong, Georgina N., Liu, Yanhong, Tsavachidis, Spyros, Jhangiani, Shalini N., Plon, Sharon E., Lau, Ching C., Claus, Elizabeth B., Barnholtz-Sloan, Jill S., Il'yasova, Dora, Schildkraut, Joellen, Ali-Osman, Francis, Sadetzki, Siegal, Johansen, Christoffer, Houlston, Richard S., Jenkins, Robert B., Lachance, Daniel, Olson, Sara H., Bernstein, Jonine L., Merrell, Ryan T., Wrensch, Margaret R., Davis, Faith G., Lai, Rose, Shete, Sanjay, Aldape, Kenneth, Amos, Christopher I., Muzny, Donna M., Gibbs, Richard A., Melin, Beatrice S., Bondy, Melissa L.
Published 2015

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

by van der Crabben, Saskia N., Hennus, Marije P., McGregor, Grant A., Ritter, Deborah I., Nagamani, Sandesh C.S., Wells, Owen S., Harakalova, Magdalena, Chinn, Ivan K., Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M., Terheggen-Lagro, Suzanne W., van Lieshout, Stef, van Roosmalen, Markus J., Renkens, Ivo, Duran, Karen, Nijman, Isaac J., Kloosterman, Wigard P., Hennekam, Eric, Orange, Jordan S., van Hasselt, Peter M., Wheeler, David A., Palecek, Jan J., Lehmann, Alan R., Oliver, Antony W., Pearl, Laurence H., Plon, Sharon E., Murray, Johanne M., van Haaften, Gijs
Published 2016

Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer

by Andersson, Ulrika, Wibom, Carl, Cederquist, Kristina, Aradottir, Steina, Borg, Åke, Armstrong, Georgina N., Shete, Sanjay, Lau, Ching C., Bainbridge, Matthew N., Claus, Elizabeth B., Barnholtz-Sloan, Jill, Lai, Rose, Il'yasova, Dora, Houlston, Richard S., Schildkraut, Joellen, Bernstein, Jonine L., Olson, Sara H., Jenkins, Robert B., Lachance, Daniel H., Wrensch, Margaret, Davis, Faith G., Merrell, Ryan, Johansen, Christoffer, Sadetzki, Siegal, Bondy, Melissa L., Melin, Beatrice S., Adatto, Phyllis, Morice, Fabian, Payen, Sam, McQuinn, Lacey, McGaha, Rebecca, Guerra, Sandra, Paith, Leslie, Roth, Katherine, Zeng, Dong, Zhang, Hui, Yung, Alfred, Aldape, Kenneth, Gilbert, Mark, Weinberger, Jeffrey, Colman, Howard, Conrad, Charles, de Groot, John, Forman, Arthur, Groves, Morris, Levin, Victor, Loghin, Monica, Puduvalli, Vinay, Sawaya, Raymond, Heimberger, Amy, Lang, Frederick, Levine, Nicholas, Tolentino, Lori, Saunders, Kate, Thach, Thu-Trang, Iacono, Donna Dello, Sloan, Andrew, Gerson, Stanton, Selman, Warren, Bambakidis, Nicholas, Hart, David, Miller, Jonathan, Hoffer, Alan, Cohen, Mark, Rogers, Lisa, Nock, Charles J, Wolinsky, Yingli, Devine, Karen, Fulop, Jordonna, Barrett, Wendi, Shimmel, Kristen, Ostrom, Quinn, Barnett, Gene, Rosenfeld, Steven, Vogelbaum, Michael, Weil, Robert, Ahluwalia, Manmeet, Peereboom, David, Staugaitis, Susan, Schilero, Cathy, Brewer, Cathy, Smolenski, Kathy, McGraw, Mary, Naska, Theresa, Rosenfeld, Steven, Ram, Zvi, Blumenthal, Deborah T., Bokstein, Felix, Umansky, Felix, Zaaroor, Menashe, Cohen, Avi, Tzuk-Shina, Tzeela, Voldby, Bo, Laursen, René, Andersen, Claus, Brennum, Jannick, Henriksen, Matilde Bille, Marzouk, Maya, Davis, Mary Elizabeth, Boland, Eamon, Smith, Marcel, Eze, Ogechukwu, Way, Mahalia, Lada, Pat, Miedzianowski, Nancy, Frechette, Michelle, Paleologos, Nina, Byström, Gudrun, Svedberg, Eva, Huggert, Sara, Kimdal, Mikael, Sandström, Monica, Brännström, Nikolina, Hayat, Amina, Tihan, Tarik, Zheng, Shichun, Berger, Mitchel, Butowski, Nicholas, Chang, Susan, Clarke, Jennifer, Prados, Michael, Rice, Terri, Sison, Jeannette, Kivett, Valerie, Duo, Xiaoqin, Hansen, Helen, Hsuang, George, Lamela, Rosito, Ramos, Christian, Patoka, Joe, Wagenman, Katherine, Zhou, Mi, Klein, Adam, McGee, Nora, Pfefferle, Jon, Wilson, Callie, Morris, Pagan, Hughes, Mary, Britt-Williams, Marlin, Foft, Jessica, Madsen, Julia, Polony, Csaba, McCarthy, Bridget, Zahora, Candice, Villano, John, Engelhard, Herbert, Borg, Ake, Chanock, Stephen K, Collins, Peter, Elston, Robert, Kleihues, Paul, Kruchko, Carol, Petersen, Gloria, Plon, Sharon, Thompson, Patricia, Johansen, C., Sadetzki, S., Melin, B., Bondy, Melissa L., Lau, Ching C., Scheurer, Michael E., Armstrong, Georgina N., Liu, Yanhong, Shete, Sanjay, Yu, Robert K., Aldape, Kenneth D., Gilbert, Mark R., Weinberg, Jeffrey, Houlston, Richard S., Hosking, Fay J., Robertson, Lindsay, Papaemmanuil, Elli, Claus, Elizabeth B., Claus, Elizabeth B., Barnholtz-Sloan, Jill, Sloan, Andrew E., Barnett, Gene, Devine, Karen, Wolinsky, Yingli, Lai, Rose, McKean-Cowdin, Roberta, Il'yasova, Dora, Schildkraut, Joellen, Sadetzki, Siegal, Yechezkel, Galit Hirsh, Bruchim, Revital Bar-Sade, Aslanov, Lili, Sadetzki, Siegal, Johansen, Christoffer, Kosteljanetz, Michael, Broholm, Helle, Bernstein, Jonine L., Olson, Sara H., Schubert, Erica, DeAngelis, Lisa, Jenkins, Robert B., Yang, Ping, Rynearson, Amanda, Andersson, Ulrika, Wibom, Carl, Henriksson, Roger, Melin, Beatrice S., Cederquist, Kristina, Aradottir, Steina, Borg, Åke, Merrell, Ryan, Lada, Patricia, Wrensch, Margaret, Wiencke, John, Wiemels, Joe, McCoy, Lucie, McCarthy, Bridget J., Davis, Faith G.
Published 2014