תוצאות חיפוש - Sitharthan Kamalakaran

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  1. 1
    Identification of a Novel Estrogen Response Element in the <b> <i>Breast Cancer Resistance Protein</i> </b> (<b> <i>ABCG2</i> </b>) Gene

    Identification of a Novel Estrogen Response Element in the <b> <i>Breast Cancer Resistance Protein</i> </b> (<b> <i>ABCG2</i> </b>) Gene מאת Pui Lai Rachel Ee, Sitharthan Kamalakaran, Debra A. Tonetti, Xiaolong He, Douglas D. Ross, William T. Beck

    יצא לאור 2004
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    Artigo
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  2. 2
    Identification of Tumor Suppressors and Oncogenes from Genomic and Epigenetic Features in Ovarian Cancer

    Identification of Tumor Suppressors and Oncogenes from Genomic and Epigenetic Features in Ovarian Cancer מאת Kazimierz O. Wrzeszczyński, Vinay Varadan, James R. Byrnes, Elena Lum, Sitharthan Kamalakaran, Douglas A. Levine, Nevenka Dimitrova, Michael Q. Zhang, Robert Lucito

    יצא לאור 2011
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    Artigo
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  3. 3
    Characterization of a variant of t(14;18) negative nodal diffuse follicular lymphoma with CD23 expression, 1p36/TNFRSF14 abnormalities, and STAT6 mutations

    Characterization of a variant of t(14;18) negative nodal diffuse follicular lymphoma with CD23 expression, 1p36/TNFRSF14 abnormalities, and STAT6 mutations מאת Imran Siddiqi, Julia Friedman, Keegan Barry-Holson, Marie‐Aline Charles, Venkata J. Thodima, Irene Kang, Raghavendra Padmanabhan, Lizalynn M. Dias, Kevin R. Kelly, Russell K. Brynes, Sitharthan Kamalakaran, Jane Houldsworth

    יצא לאור 2016
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    Artigo
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  4. 4
    Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease

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

    יצא לאור 2018
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    Artigo
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  5. 5
    Exome-Based Rare-Variant Analyses in CKD

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

    יצא לאור 2019
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    Artigo
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  6. 6
    DNA methylation patterns in luminal breast cancers differ from non‐luminal subtypes and can identify relapse risk independent of other clinical variables

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

    יצא לאור 2010
    קבל טקסט מלא
    Artigo
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  7. 7
    Progranulin AAV gene therapy for frontotemporal dementia: translational studies and phase 1/2 trial interim results

    Progranulin AAV gene therapy for frontotemporal dementia: translational studies and phase 1/2 trial interim results מאת Jeffrey Sevigny, Olga Uspenskaya, Laura D. Heckman, Li Chin Wong, Daniel A. Hatch, Ambika Tewari, Rik Vandenberghe, David J. Irwin, Dario Saracino, Isabelle Le Ber, Rebekah M. Ahmed, Jonathan D. Rohrer, Adam L. Boxer, Sebastian Boland, Patricia Sheehan, Alissa Brandes, Suzanne R. Burstein, Benjamin Shykind, Sitharthan Kamalakaran, Carter W. Daniels, E. David Litwack, Erin Mahoney, Jenny Velaga, Ilan McNamara, Patricia Sondergaard, Syed Sajjad, Yvonne M. Kobayashi, Asa Abeliovich, Franz Hefti

    יצא לאור 2024
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    Artigo
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  8. 8
    Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

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

    יצא לאור 2017
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    Artigo
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  9. 9
    Diagnostic Utility of Exome Sequencing for Kidney Disease

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

    יצא לאור 2018
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    Artigo
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  10. 10
    Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

    Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals מאת Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L. Heinzen, Ryan S. Dhindsa, Kate E. Stanley, Gianpiero L. Cavalleri, Hákon Hákonarson, Ingo Helbig, Roland Krause, Patrick May, Sarah Weckhuysen, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Patrick Kwan, Anthony G Marson, Randy Stewart, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Kevin E. McKenna, Brigid M. Regan, Susannah T. Bellows, Costin Leu, Caitlin A. Bennett, Esther M.C. Johns, Alexandra MacDonald, Hannah Shilling, Rosemary Burgess, Sarah Weckhuysen, Melanie Bahlo, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Tara Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Wolfram S. Kunz, Gábor Zsurka, Christian E. Elger, Jürgen Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller‐Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Christian Hengsbach, Sarah Rau, Ana F. Maisch, Bernhard J. Steinhoff, Andreas Schulze‐Bonhage, Susanne Schubert‐Bast, Herbert Schreiber, Ingo Borggräfe

    יצא לאור 2019
    קבל טקסט מלא
    Artigo
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  11. 11
    Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

    Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects מאת Lisa‐Marie Niestroj, Eduardo Pérez‐Palma, Daniel P. Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus, Peter Nürnberg, Remi Stevelink, Mark J. Daly, Aarno Palotie, Dennis Lal, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Dennis Lal, Tracy Air, Namrata Gupta, Benjamin M. Neale, Samuel F. Berkovic, Holger Lerche, David B. Goldstein, Daniel H. Lowenstein, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Hákon Hákonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin E. McKenna, Brigid M. Regan, Susannah T. Bellows, Costin Leu, Brigid M. Regan, Caitlin A. Bennett, Susannah T. Bellows, Esther C Johns, Alexandra MacDonald, Hannah Shilling, Rosemary Burgess, Sarah Weckhuysen, Melanie Bahlo, Terence J. O’Brien, Patrick Kwan, Slavé Petrovski, Marian Todaro, Sarah Weckhuysen, Hannah Stamberger, Peter De Jonghe, Chantal Depondt, Danielle M. Andrade, Tara Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Wolfram S. Kunz, Gábor Zsurka, Christian E. Elger, Jürgen Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann

    יצא לאור 2020
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    Artigo
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  12. 12
    Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

    Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals מאת Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Hákon Hákonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin E. McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara Sadoway, Heinz Krestel, André Schaller, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Yiolanda Christou, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Fritz Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Gábor Zsurka, Rainer Surges, Tobias Baumgartner, Randi von Wrede, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller‐Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian M. Boßelmann, Josua Kegele

    יצא לאור 2021
    קבל טקסט מלא
    Artigo
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  13. 13
    Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

    Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals מאת Ludovica Montanucci, David Lewis‐Smith, Ryan L. Collins, Lisa‐Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys H. Thomas, Michael E. Talkowski, Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, David B. Goldstein, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Hákon Hákonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin E. McKenna, Brigid M. Regan, Caitlin A. Bennett, Stephanie L. Leech, Costin Leu, David Lewis‐Smith, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Chantal Depondti, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara Sadoway, Heinz Krestel, André Schaller, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Christou Yiolanda, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Fritz Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Gábor Zsurka, Rainer Surges, Tobias H. Baumgartner, Randi von Wrede, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak

    יצא לאור 2023
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    Artigo
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  14. 14
    Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    Genome-wide Analyses Identify KIF5A as a Novel ALS Gene מאת Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan Kenna, Mike A. Nalls, Pamela Keagle, Alberto Rivera, William Camu, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. A. van der Spek, Hannah A. Pliner, Shankaracharya, Bradley Smith, David J. Stone, Simon Topp, Yevgeniya Abramzon, Soragia Athina Gkazi, John D. Eicher, Aoife Kenna, Gabriele Mora, Aude Nicolas, Kevin P. Kenna, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, F. L. Conforti, Johnathan Cooper‐Knock, Sonia Messina, Isabella Laura Simone, Francesca Trojsi, Jeffrey D. Rothstein, Lorne Zinman, Rick A. A. van der Spek, Hannah A. Pliner, Margherita Capasso, Luigi Ferrucci, Cristiane Araújo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Aaron D. Gitler, Tim Harris, R Myers, Hemali Phatnani, Rajeeva Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex Lenail, Leandro de Araújo Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James Berry, Jonathan Mill, Stephen J. Kolb, Merit Cudkowicz, Emily G. Baxi, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering‐Brown, Richard W. Orrell, Katie Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Merit Cudkowicz

    יצא לאור 2018
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    Artigo
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