Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study by Petrovski, Slavé, Aggarwal, Vimla, Giordano, Jessica L, Stosic, Melissa, Wou, Karen, Bier, Louise, Spiegel, Erica, Brennan, Kelly, Stong, Nicholas, Jobanputra, Vaidehi, Ren, Zhong, Zhu, Xiaolin, Mebane, Caroline, Nahum, Odelia, Wang, Quanli, Kamalakaran, Sitharthan, Malone, Colin, Anyane-Yeboa, Kwame, Miller, Russell, Levy, Brynn, Goldstein, David B, Wapner, Ronald J

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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals by Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Singh, Tarjinder, Watts, Nick, Lal, Dennis, Hakonarson, Hakon, Weckhuysen, Sarah, Petrovski, Slavé, Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Guerrini, Renzo, Marson, Anthony G., Depondt, Chantal, Striano, Pasquale, Freyer, Catharine, Regan, Brigid M., Leu, Costin, Johns, Esther M.C., Macdonald, Alexandra, Bahlo, Melanie, Todaro, Marian, Stamberger, Hannah, Sadoway, Tara R., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Rademacher, Michael, van Baalen, Andreas, von Spiczak, Sarah, Afawi, Zaid, Canavati, Christina, Kluger, Gerhard, Blatt, Ilan, Weber, Yvonne G., Wolking, Stefan, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Madeleyn, Rene, Kälviäinen, Reetta, Linnankivi, Tarja, Chung, Seo-Kyung, Balestrini, Simona, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sham, Pak C., Lui, Colin H.T., Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Vari, Maria Stella, Salpietro, Vincenzo, Tinuper, Paolo, Gagliardi, Monica, Montomoli, Martino, Doccini, Viola, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., Caglayan, S. Hande, Arslan, Mutluay, Yis, Uluc, Topaloglu, Pınar, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, French, Jacqueline A., Kuzniecky, Ruben I., Hegde, Manu, Helbig, Katherine L., Piras, Federica, Reif, Andreas, McQuillin, Andrew, Johnstone, Mandy, Palotie, Aarno, Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Marder, Stephen R., Medeiros, Helena, Morley, Christopher P., Rapaport, Mark H., Knowles, James A., McCarroll, Steven A., Lowenstein, Daniel H., Goldstein, David B.

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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals by Povysil, Gundula, Allen, Andrew S., Howrigan, Daniel P., Tashman, Katherine, Cerrato, Felecia, Cusick, Caroline, Heyne, Henrike, Churchhouse, Claire, Watts, Nick, Lal, Dennis, Gupta, Namrata, Cavalleri, Gianpiero L., Hakonarson, Hakon, Marson, Anthony G., Petrovski, Slavé, Sisodiya, Sanjay M., Depondt, Chantal, Scheffer, Ingrid E., Krause, Roland, Regan, Brigid M., Leu, Costin, Leech, Stephanie L., Todaro, Marian, Stamberger, Hannah, Kousiappa, Ioanna, Tanteles, George A., Christou, Yiolanda, Laššuthová, Petra, Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Rademacher, Annika, von Spiczak, Sarah, Kanaan, Moien, Canavati, Christina, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Kegele, Josua, Borggräfe, Ingo, Mayer, Thomas, Brockmann, Knut, Madeleyn, Rene, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Derambure, Philippe, Hirsch, Edouard, Chassoux, Francine, Chung, Seo-Kyung, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Johnson, Michael R., Auce, Pauls, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Iacomino, Michele, Riva, Antonella, Vari, Maria Stella, Salpietro, Vincenzo, Mancardi, Maria Margherita, Nobili, Lino, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Tinuper, Paolo, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Parrini, Elena, Bianchini, Claudia, Montomoli, Martino, Hirose, Shinichi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Sadleir, Lynette G., Topaloglu, Pınar, Baykan, Betül, Özkara, YeşÇiğdem, Ho, Chen-Jui, Chou, I-Jun, Shain, Catherine, Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Ferguson, Lisa, Clark, Peggy O., Privitera, Michael, Schachter, Steven, Cosico, Mahgenn, Lowenstein, Daniel H., Goldstein, David B.

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Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance by Hayeck, Tristan J., Stong, Nicholas, Wolock, Charles J., Copeland, Brett, Kamalakaran, Sitharthan, Goldstein, David B., Allen, Andrew S.

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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations by Sanna-Cherchi, Simone, Khan, Kamal, Westland, Rik, Krithivasan, Priya, Fievet, Lorraine, Rasouly, Hila Milo, Ionita-Laza, Iuliana, Capone, Valentina P., Fasel, David A., Kiryluk, Krzysztof, Kamalakaran, Sitharthan, Bodria, Monica, Otto, Edgar A., Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Vukojevic, Katarina, Pediaditakis, Igor, Makar, Gabriel S., Mitrotti, Adele, Verbitsky, Miguel, Martino, Jeremiah, Liu, Qingxue, Na, Young-Ji, Goj, Vinicio, Ardissino, Gianluigi, Gigante, Maddalena, Gesualdo, Loreto, Janezcko, Magdalena, Zaniew, Marcin, Mendelsohn, Cathy Lee, Shril, Shirlee, Hildebrandt, Friedhelm, van Wijk, Joanna A.E., Arapovic, Adela, Saraga, Marijan, Allegri, Landino, Izzi, Claudia, Scolari, Francesco, Tasic, Velibor, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Mane, Shrikant, Goldstein, David B., Lifton, Richard P., Katsanis, Nicholas, Davis, Erica E., Gharavi, Ali G.

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Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease by Raghavan, Neha S., Brickman, Adam M., Andrews, Howard, Manly, Jennifer J., Schupf, Nicole, Lantigua, Rafael, Wolock, Charles J., Kamalakaran, Sitharthan, Petrovski, Slave, Tosto, Giuseppe, Vardarajan, Badri N., Goldstein, David B., Mayeux, Richard

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Identification of tumor suppressors and oncogenes from genomic and epigenetic features in ovarian cancer by Wrzeszczynski, Kazimierz O, Varadan, Vinay, Byrnes, James, Lum, Elena, Kamalakaran, Sitharthan, Levine, Douglas A, Dimitrova, Nevenka, Zhang, Michael Q, Lucito, Robert

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A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations by Zhu, Xiaolin, Padmanabhan, Raghavendra, Copeland, Brett, Bridgers, Joshua, Ren, Zhong, Kamalakaran, Sitharthan, O'Driscoll-Collins, Ailbhe, Berkovic, Samuel F, Scheffer, Ingrid E, Poduri, Annapurna, Mei, Davide, Guerrini, Renzo, Lowenstein, Daniel H, Allen, Andrew S, Heinzen, Erin L, Goldstein, David B

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Loss of DOK2 induces carboplatin resistance in ovarian cancer via suppression of apoptosis by Lum, Elena, Vigliotti, Michele, Banerjee, Nilanjana, Cutter, Noelle, Wrzeszczynski, Kazimierz O, Khan, Sohail, Kamalakaran, Sitharthan, Levine, Douglas A, Dimitrova, Nevenka, Lucito, Robert

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Identification of a novel estrogen response element in the Breast Cancer Resistance Protein (ABCG2) gene by EE, Pui Lai, KAMALAKARAN, Sitharthan, TONETTI, Debra, XIAOLONG HE, ROSS, Douglas D, BECK, William T

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Effective normalization for copy number variation detection from whole genome sequencing by Janevski, Angel, Varadan, Vinay, Kamalakaran, Sitharthan, Banerjee, Nilanjana, Dimitrova, Nevenka

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DNA methylation patterns in luminal breast cancers differ from non-luminal subtypes and can identify relapse risk independent of other clinical variables by Kamalakaran, Sitharthan, Varadan, Vinay, Giercksky Russnes, Hege E., Levy, Dan, Kendall, Jude, Janevski, Angel, Riggs, Michael, Banerjee, Nilanjana, Synnestvedt, Marit, Schlichting, Ellen, Kåresen, Rolf, Shama Prasada, K., Rotti, Harish, Rao, Ramachandra, Rao, Laxmi, Eric Tang, Man-Hung, Satyamoorthy, K., Lucito, Robert, Wigler, Michael, Dimitrova, Nevenka, Naume, Bjorn, Borresen-Dale, Anne-Lise, Hicks, James B.

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Translating next generation sequencing to practice: Opportunities and necessary steps by Kamalakaran, Sitharthan, Varadan, Vinay, Janevski, Angel, Banerjee, Nilanjana, Tuck, David, McCombie, W. Richard, Dimitrova, Nevenka, Harris, Lyndsay N.

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Identification of Estrogen-responsive Genes Using a Genome-wide Analysis of Promoter Elements for Transcription Factor Binding Sites by Kamalakaran, Sitharthan, Radhakrishnan, Senthil K., Beck, William T.

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Pro-apoptotic role of NF-κB: Implications for cancer therapy by Radhakrishnan, Senthil K., Kamalakaran, Sitharthan

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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene by Kenna, Kevin P., Chia, Ruth, Dominov, Janice A., Nalls, Mike A., van Vugt, Joke J.F.A., Simone, Isabella, Caredda, Carla, Milia, Antonio, Floris, Gianluca, Caponnetto, Claudia, Mandich, Paola, Mora, Gabriele, Sideri, Riccardo, Penco, Silvana, Mandrioli, Jessica, Trojsi, Francesca, Ticca, Anna, Ortu, Enzo, Pugliatti, Maura, Benigni, Michele, Brunetti, Maura, Marrali, Giuseppe, Riva, Nilo, Conforti, Francesca L., Messina, Sonia, D’Alfonso, Sandra, Baloh, Robert H., Penny, Michelle, Moreno, Cristiane de Araujo Martins, Chung, Wendy K., Cirulli, Elizabeth T., Harris, Tim, Krueger, Brian J., Lasseigne, Brittany N., McKenna-Yasek, Diane, Myers, Richard M., Pulst, Stefan M., Raphael, Alya R., Rouleau, Guy A., Sapp, Peter C., Waite, Lindsay L., Wang, Quanli, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Hornstein, Eran, Patsopoulos, Nikolaos A., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Baxi, Emily, LeNail, Alex, Benatar, Michael, Hussain, Sumaira, Swenson, Andrea, Jackson, Carlayne, So, Yuen, Wuu, Joanne, Silani, Vincenzo, Fogh, Isabella, Cereda, Cristina, Ceroni, Mauro, Mazzini, Letizia, Maderna, Luca, Sorarù, Gianni, Bernard, Emilien, Laaksovirta, Hannu, McKenna-Yasek, Diane, Asress, Seneshaw, Al-Sarraj, Safa, Scholz, Sonja W., MacGowan, Daniel J.L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Dunckley, Travis L., Troncoso, Juan C., Moisse, Matthieu, Drory, Vivian E., Turner, Martin R., Blair, Ian P., de Carvalho, Mamede, Hide, Winston, Glass, Jonathan, Mill, Jonathan, Newhouse, Stephen, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, van den Berg, Leonard, Williams, Kelly L., Zatz, Mayana, Rothstein, Jeffrey D., Simmons, Zachary, Van Damme, Philip, Sabatelli, Mario, Trojanowski, John Q., Brown, Robert H., Veldink, Jan H., Tienari, Pentti

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Methylation detection oligonucleotide microarray analysis: a high-resolution method for detection of CpG island methylation by Kamalakaran, Sitharthan, Kendall, Jude, Zhao, Xiaoyue, Tang, Chunlao, Khan, Sohail, Ravi, Kandasamy, Auletta, Theresa, Riggs, Michael, Wang, Yun, Helland, Åslaug, Naume, Bjørn, Dimitrova, Nevenka, Børresen-Dale, Anne-Lise, Hicks, Jim, Lucito, Robert

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Polygenic burden in focal and generalized epilepsies by Leu, Costin, Stevelink, Remi, Smith, Alexander W, Goleva, Slavina B, Kanai, Masahiro, Ferguson, Lisa, Campbell, Ciaran, Kamatani, Yoichiro, Okada, Yukinori, Sisodiya, Sanjay M, Cavalleri, Gianpiero L, Koeleman, Bobby P C, Lerche, Holger, Jehi, Lara, Davis, Lea K, Najm, Imad M, Palotie, Aarno, Daly, Mark J, Busch, Robyn M, Lal, Dennis

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Exome-Based Rare-Variant Analyses in CKD by Cameron-Christie, Sophia, Wolock, Charles J, Groopman, Emily, Petrovski, Slavé, Kamalakaran, Sitharthan, Povysil, Gundula, Vitsios, Dimitrios, Zhang, Mengqi, Fleckner, Jan, March, Ruth E, Gelfman, Sahar, Marasa, Maddalena, Li, Yifu, Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Allen, Andrew S, Fellström, Bengt C, Haefliger, Carolina, Platt, Adam, Goldstein, David B, Gharavi, Ali G

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Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects by Niestroj, Lisa-Marie, Perez-Palma, Eduardo, Howrigan, Daniel P, Zhou, Yadi, Cheng, Feixiong, Saarentaus, Elmo, Nürnberg, Peter, Stevelink, Remi, Daly, Mark J, Palotie, Aarno, Lal, Dennis

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