Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability von Zahir, Farah R, Mwenifumbo, Jill C, Chun, Hye-Jung E, Lim, Emilia L, Van Karnebeek, Clara D M, Couse, Madeline, Mungall, Karen L, Lee, Leora, Makela, Nancy, Armstrong, Linlea, Boerkoel, Cornelius F, Langlois, Sylvie L, McGillivray, Barbara M, Jones, Steven J M, Friedman, Jan M, Marra, Marco A

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How Do We Evaluate Scholarly Activity? von Dean, Heather J., MD FRCPC, McGillivray, Barbara, MD FRCSC

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The citation advantage of linking publications to research data von Colavizza, Giovanni, Hrynaszkiewicz, Iain, Staden, Isla, Whitaker, Kirstie, McGillivray, Barbara

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genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies von Korbel, Jan O, Tirosh-Wagner, Tal, Urban, Alexander Eckehart, Chen, Xiao-Ning, Kasowski, Maya, Dai, Li, Grubert, Fabian, Erdman, Chandra, Gao, Michael C, Lange, Ken, Sobel, Eric M, Barlow, Gillian M, Aylsworth, Arthur S, Carpenter, Nancy J, Clark, Robin Dawn, Cohen, Monika Y, Doran, Eric, Falik-Zaccai, Tzipora, Lewin, Susan O, Lott, Ira T, McGillivray, Barbara C, Moeschler, John B, Pettenati, Mark J, Pueschel, Siegfried M, Rao, Kathleen W, Shaffer, Lisa G, Shohat, Mordechai, Van Riper, Alexander J, Warburton, Dorothy, Weissman, Sherman, Gerstein, Mark B, Snyder, Michael, Korenberg, Julie R

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Patterns of somatic structural variation in human cancer genomes von Li, Yilong, Roberts, Nicola D., Wala, Jeremiah A., Shapira, Ofer, Schumacher, Steven E., Kumar, Kiran, Khurana, Ekta, Waszak, Sebastian, Korbel, Jan O., Haber, James E., Imielinski, Marcin, Weischenfeldt, Joachim, Beroukhim, Rameen, Campbell, Peter J.

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Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing von Cortés-Ciriano, Isidro, Lee, Jake June-Koo, Xi, Ruibin, Jain, Dhawal, Jung, Youngsook L., Yang, Lixing, Gordenin, Dmitry, Klimczak, Leszek J., Zhang, Cheng-Zhong, Pellman, David S., Park, Peter J.

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Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases von Pilarski, Robert, Cebulla, Colleen M., Massengill, James B., Rai, Karan, Rich, Thereasa, Strong, Louise, McGillivray, Barbara, Asrat, Mary-Jill, Davidorf, Frederick H, Abdel-Rahman, Mohamed H.

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Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition von Rodriguez-Martin, Bernardo, Alvarez, Eva G., Baez-Ortega, Adrian, Zamora, Jorge, Supek, Fran, Demeulemeester, Jonas, Santamarina, Martin, Ju, Young Seok, Temes, Javier, Garcia-Souto, Daniel, Detering, Harald, Li, Yilong, Rodriguez-Castro, Jorge, Dueso-Barroso, Ana, Bruzos, Alicia L., Dentro, Stefan C., Blanco, Miguel G., Contino, Gianmarco, Ardeljan, Daniel, Tojo, Marta, Roberts, Nicola D., Zumalave, Sonia, Edwards, Paul A., Weischenfeldt, Joachim, Puiggròs, Montserrat, Chong, Zechen, Chen, Ken, Lee, Eunjung Alice, Wala, Jeremiah A., Raine, Keiran M., Butler, Adam, Waszak, Sebastian M., Navarro, Fabio C. P., Schumacher, Steven E., Monlong, Jean, Maura, Francesco, Bolli, Niccolo, Bourque, Guillaume, Gerstein, Mark, Park, Peter J., Wedge, David C., Beroukhim, Rameen, Torrents, David, Korbel, Jan O., Martincorena, Iñigo, Fitzgerald, Rebecca C., Van Loo, Peter, Kazazian, Haig H., Burns, Kathleen H., Campbell, Peter J., Tubio, Jose M. C.

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Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer von Akdemir, Kadir C., Le, Victoria T., Chandran, Sahaana, Li, Yilong, Verhaak, Roel G., Beroukhim, Rameen, Campbell, Peter J., Chin, Lynda, Dixon, Jesse R., Futreal, P. Andrew

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A guide for social science journal editors on easing into open science von Silverstein, Priya, Elman, Colin, Montoya, Amanda, McGillivray, Barbara, Pennington, Charlotte R, Harrison, Chase H, Steltenpohl, Crystal N, Röer, Jan Philipp, Corker, Katherine S, Charron, Lisa M, Elsherif, Mahmoud, Malicki, Mario, Hayes-Harb, Rachel, Grinschgl, Sandra, Neal, Tess, Evans, Thomas Rhys, Karhulahti, Veli-Matti, Krenzer, William L D, Belaus, Anabel, Moreau, David, Burin, Debora I, Chin, Elizabeth, Plomp, Esther, Mayo-Wilson, Evan, Lyle, Jared, Adler, Jonathan M, Bottesini, Julia G, Lawson, Katherine M, Schmidt, Kathleen, Reneau, Kyrani, Vilhuber, Lars, Waltman, Ludo, Gernsbacher, Morton Ann, Plonski, Paul E, Ghai, Sakshi, Grant, Sean, Christian, Thu-Mai, Ngiam, William, Syed, Moin

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Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms von Regalado, Ellen S, Guo, Dong-chuan, Villamizar, Carlos, Avidan, Nili, Gilchrist, Dawna, McGillivray, Barbara, Clarke, Lorne, Bernier, Francois, Santos-Cortez, Regie L, Leal, Suzanne M, Bertoli-Avella, Aida M, Shendure, Jay, Rieder, Mark J, Nickerson, Deborah A, Milewicz, Dianna M

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Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy von Brodehl, Andreas, Ferrier, Raechel A., Hamilton, Sara J., Greenway, Steven C., Brundler, Marie-Anne, Yu, Weiming, Gibson, William T., McKinnon, Margaret L., McGillivray, Barbara, Alvarez, Nanette, Giuffre, Michael, Schwartzentruber, Jeremy, Gerull, Brenda

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Genomic footprints of activated telomere maintenance mechanisms in cancer von Sieverling, Lina, Hong, Chen, Koser, Sandra D., Ginsbach, Philip, Kleinheinz, Kortine, Hutter, Barbara, Braun, Delia M., Cortés-Ciriano, Isidro, Xi, Ruibin, Kabbe, Rolf, Park, Peter J., Eils, Roland, Schlesner, Matthias, Brors, Benedikt, Rippe, Karsten, Jones, David T. W., Feuerbach, Lars

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Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation von Friedman, J.M., Baross, Ágnes, Delaney, Allen D., Ally, Adrian, Arbour, Laura, Asano, Jennifer, Bailey, Dione K., Barber, Sarah, Birch, Patricia, Brown-John, Mabel, Cao, Manqiu, Chan, Susanna, Charest, David L., Farnoud, Noushin, Fernandes, Nicole, Flibotte, Stephane, Go, Anne, Gibson, William T., Holt, Robert A., Jones, Steven J.M., Kennedy, Giulia C., Krzywinski, Martin, Langlois, Sylvie, Li, Haiyan I., McGillivray, Barbara C., Nayar, Tarun, Pugh, Trevor J., Rajcan-Separovic, Evica, Schein, Jacqueline E., Schnerch, Angelique, Siddiqui, Asim, Van Allen, Margot I., Wilson, Gary, Yong, Siu-Li, Zahir, Farah, Eydoux, Patrice, Marra, Marco A.

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Redefining the Etiologic Landscape of Cerebellar Malformations von Aldinger, Kimberly A., Timms, Andrew E., Thomson, Zachary, Mirzaa, Ghayda M., Bennett, James T., Rosenberg, Alexander B., Roco, Charles M., Hirano, Matthew, Abidi, Fatima, Haldipur, Parthiv, Cheng, Chi V., Collins, Sarah, Park, Kaylee, Zeiger, Jordan, Overmann, Lynne M., Alkuraya, Fowzan S., Biesecker, Leslie G., Braddock, Stephen R., Cathey, Sara, Cho, Megan T., Chung, Brian H.Y., Everman, David B., Zarate, Yuri A., Jones, Julie R., Schwartz, Charles E., Goldstein, Amy, Hopkin, Robert J., Krantz, Ian D., Ladda, Roger L., Leppig, Kathleen A., McGillivray, Barbara C., Sell, Susan, Wusik, Katherine, Gleeson, Joseph G., Nickerson, Deborah A., Bamshad, Michael J., Gerrelli, Dianne, Lisgo, Steven N., Seelig, Georg, Ishak, Gisele E., Barkovich, A. James, Curry, Cynthia J., Glass, Ian A., Millen, Kathleen J., Doherty, Dan, Dobyns, William B.

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Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples von Bailey, Matthew H., Meyerson, William U., Dursi, Lewis Jonathan, Wang, Liang-Bo, Dong, Guanlan, Liang, Wen-Wei, Weerasinghe, Amila, Li, Shantao, Li, Yize, Kelso, Sean, Saksena, Gordon, Ellrott, Kyle, Wendl, Michael C., Wheeler, David A., Getz, Gad, Simpson, Jared T., Gerstein, Mark B., Ding, Li

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Understanding the impact of 1q21.1 copy number variant von Harvard, Chansonette, Strong, Emma, Mercier, Eloi, Colnaghi, Rita, Alcantara, Diana, Chow, Eva, Martell, Sally, Tyson, Christine, Hrynchak, Monica, McGillivray, Barbara, Hamilton, Sara, Marles, Sandra, Mhanni, Aziz, Dawson, Angelika J, Pavlidis, Paul, Qiao, Ying, Holden, Jeanette J, Lewis, Suzanne M E, O'Driscoll, Mark, Rajcan-Separovic, Evica

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Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 von Menten, Björn, Buysse, Karen, Zahir, Farah, Hellemans, Jan, Hamilton, Sara J, Costa, Teresa, Fagerstrom, Carrie, Anadiotis, George, Kingsbury, Daniel, McGillivray, Barbara C, Marra, Marco A, Friedman, Jan M, Speleman, Frank, Mortier, Geert

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Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation von Ziegler, Alban, Duclaux-Loras, Rémi, Revenu, Céline, Charbit-Henrion, Fabienne, Begue, Bernadette, Duroure, Karine, Grimaud, Linda, Guihot, Anne Laure, Desquiret-Dumas, Valérie, Zarhrate, Mohammed, Cagnard, Nicolas, Mas, Emmanuel, Breton, Anne, Edouard, Thomas, Billon, Clarisse, Frank, Michael, Colin, Estelle, Lenaers, Guy, Henrion, Daniel, Lyonnet, Stanislas, Faivre, Laurence, Alembik, Yves, Philippe, Anaïs, Moulin, Bruno, Reinstein, Eyal, Tzur, Shay, Attali, Ruben, McGillivray, George, White, Susan M., Gallacher, Lyndon, Kutsche, Kerstin, Schneeberger, Pauline, Girisha, Katta M., Nayak, Shalini S., Pais, Lynn, Maroofian, Reza, Rad, Aboulfazl, Vona, Barbara, Karimiani, Ehsan Ghayoor, Lekszas, Caroline, Haaf, Thomas, Martin, Ludovic, Ruemmele, Frank, Bonneau, Dominique, Cerf-Bensussan, Nadine, Del Bene, Filippo, Parlato, Marianna

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Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization von Friedman, Jm, Adam, Shelin, Arbour, Laura, Armstrong, Linlea, Baross, Agnes, Birch, Patricia, Boerkoel, Cornelius, Chan, Susanna, Chai, David, Delaney, Allen D, Flibotte, Stephane, Gibson, William T, Langlois, Sylvie, Lemyre, Emmanuelle, Li, H Irene, MacLeod, Patrick, Mathers, Joan, Michaud, Jacques L, McGillivray, Barbara C, Patel, Millan S, Qian, Hong, Rouleau, Guy A, Van Allen, Margot I, Yong, Siu-Li, Zahir, Farah R, Eydoux, Patrice, Marra, Marco A

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