Somatic mutation load of estrogen receptor-positive breast tumors predicts overall survival: an analysis of genome sequence data

by Haricharan, Svasti, Bainbridge, Matthew N., Scheet, Paul, Brown, Powel H.
Published 2014

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

by Bainbridge, Matthew N, Wang, Min, Wu, Yuanqing, Newsham, Irene, Muzny, Donna M, Jefferies, John L, Albert, Thomas J, Burgess, Daniel L, Gibbs, Richard A
Published 2011

Atlas2 Cloud: a framework for personal genome analysis in the cloud

by Evani, Uday S, Challis, Danny, Yu, Jin, Jackson, Andrew R, Paithankar, Sameer, Bainbridge, Matthew N, Jakkamsetti, Adinarayana, Pham, Peter, Coarfa, Cristian, Milosavljevic, Aleksandar, Yu, Fuli
Published 2012

Analysis of the prostate cancer cell line LNCaP transcriptome using a sequencing-by-synthesis approach

by Bainbridge, Matthew N, Warren, René L, Hirst, Martin, Romanuik, Tammy, Zeng, Thomas, Go, Anne, Delaney, Allen, Griffith, Malachi, Hickenbotham, Matthew, Magrini, Vincent, Mardis, Elaine R, Sadar, Marianne D, Siddiqui, Asim S, Marra, Marco A, Jones, Steven JM
Published 2006

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

by Bainbridge, Matthew N, Hu, Hao, Muzny, Donna M, Musante, Luciana, Lupski, James R, Graham, Brett H, Chen, Wei, Gripp, Karen W, Jenny, Kim, Wienker, Thomas F, Yang, Yaping, Sutton, V Reid, Gibbs, Richard A, Ropers, H Hilger
Published 2013

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

by Lupski, James R, Gonzaga-Jauregui, Claudia, Yang, Yaping, Bainbridge, Matthew N, Jhangiani, Shalini, Buhay, Christian J, Kovar, Christie L, Wang, Min, Hawes, Alicia C, Reid, Jeffrey G, Eng, Christine, Muzny, Donna M, Gibbs, Richard A
Published 2013

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

Secondary findings and carrier test frequencies in a large multiethnic sample

by Gambin, Tomasz, Jhangiani, Shalini N., Below, Jennifer E., Campbell, Ian M., Wiszniewski, Wojciech, Muzny, Donna M., Staples, Jeffrey, Morrison, Alanna C., Bainbridge, Matthew N., Penney, Samantha, McGuire, Amy L., Gibbs, Richard A., Lupski, James R., Boerwinkle, Eric
Published 2015

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

by James, Regis A., Campbell, Ian M., Chen, Edward S., Boone, Philip M., Rao, Mitchell A., Bainbridge, Matthew N., Lupski, James R., Yang, Yaping, Eng, Christine M., Posey, Jennifer E., Shaw, Chad A.
Published 2016

Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes

by Lotta, Luca A, Wang, Mark, Yu, Jin, Martinelli, Ida, Yu, Fuli, Passamonti, Serena M, Consonni, Dario, Pappalardo, Emanuela, Menegatti, Marzia, Scherer, Steven E, Lewis, Lora L, Akbar, Humeira, Wu, Yuanqing, Bainbridge, Matthew N, Muzny, Donna M, Mannucci, Pier M, Gibbs, Richard A, Peyvandi, Flora
Published 2012

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation

by Shapiro, Jay R, Lietman, Caressa, Grover, Monica, Lu, James T, Nagamani, Sandesh CS, Dawson, Brian C, Baldridge, Dustin M, Bainbridge, Matthew N, Cohn, Dan H, Blazo, Maria, Roberts, Timothy T, Brennen, Feng-Shu, Wu, Yimei, Gibbs, Richard A, Melvin, Pamela, Campeau, Philippe M, Lee, Brendan H
Published 2013

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

Brain Tumor Epidemiology – A Hub within Multidisciplinary Neuro-oncology. Report on the 15th Brain Tumor Epidemiology Consortium (BTEC) Annual Meeting, Vienna, 2014

by Woehrer, Adelheid, Lau, Ching C., Prayer, Daniela, Bauchet, Luc, Rosenfeld, Myrna, Capper, David, Fisher, Paul G., Kool, Marcel, Müller, Martin, Kros, Johan M., Kruchko, Carol, Wiemels, Joseph, Wrensch, Margaret, Danysh, Heather E., Zouaoui, Sonia, Heck, Julia E., Johnson, Kimberly J., Qi, Xiaoyang, O’Neill, Brian P., Afzal, Samina, Scheurer, Michael E., Bainbridge, Matthew N., Nousome, Darryl, El Bahassi, Mustapha, Hainfellner, Johannes A., Barnholtz-Sloan, Jill S.
Published 2015

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