Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study von 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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Diagnostic Utility of Exome Sequencing for Kidney Disease von Groopman, Emily E, Marasa, Maddalena, Cameron-Christie, Sophia, Petrovski, Slavé, Aggarwal, Vimla S, Milo-Rasouly, Hila, Li, Yifu, Zhang, Junying, Nestor, Jordan, Krithivasan, Priya, Lam, Wan Yee, Mitrotti, Adele, Piva, Stacy, Kil, Byum H, Chatterjee, Debanjana, Reingold, Rachel, Bradbury, Drew, DiVecchia, Michael, Snyder, Holly, Mu, Xueru, Mehl, Karla, Balderes, Olivia, Fasel, David A, Weng, Chunhua, Radhakrishnan, Jai, Canetta, Pietro, Appel, Gerald B, Bomback, Andrew S, Ahn, Wooin, Uy, Natalie S, Alam, Shumyle, Cohen, David J, Crew, Russell J, Dube, Geoffrey K, Rao, Maya K, Kamalakaran, Sitharthan, Copeland, Brett, Ren, Zhong, Bridgers, Joshua, Malone, Colin D, Mebane, Caroline M, Dagaonkar, Neha, Fellström, Bengt C, Haefliger, Carolina, Mohan, Sumit, Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Fleckner, Jan, March, Ruth, Platt, Adam, Goldstein, David B, Gharavi, Ali G

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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals von 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 von 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 von Hayeck, Tristan J., Stong, Nicholas, Wolock, Charles J., Copeland, Brett, Kamalakaran, Sitharthan, Goldstein, David B., Allen, Andrew S.

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A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants von Wolock, Charles J., Stong, Nicholas, Ma, Chu Jian, Nagasaki, Takayuki, Lee, Winston, Tsang, Stephen H., Kamalakaran, Sitharthan, Goldstein, David B., Allikmets, Rando

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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von Kamalakaran, Sitharthan, Radhakrishnan, Senthil K., Beck, William T.

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

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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene von 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 von 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 von 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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