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Items: 1 to 20 of 22

1.
Eugenia Migliavacca, Christelle Golzio, Katrin Männik, Ian Blumenthal, Edwin C. Oh, Louise Harewood, Jack A. Kosmicki, Maria Nicla Loviglio, Giuliana Giannuzzi, Loyse Hippolyte, Anne M. Maillard, Ali Abdullah Alfaiz, 16p11.2 European Consortium, Mieke M. van Haelst, Joris Andrieux, James F. Gusella, Mark J. Daly, Jacques S. Beckmann, Sébastien Jacquemont, Michael E. Talkowski, Nicholas Katsanis, Alexandre Reymond
Am J Hum Genet. 2015 May 7; 96(5): 784–796. doi: 10.1016/j.ajhg.2015.04.002
PMCID:
PMC4570289
2.
N. Wu, X. Ming, J. Xiao, Z. Wu, X. Chen, M. Shinawi, Y. Shen, G. Yu, J. Liu, H. Xie, Z.S. Gucev, S. Liu, N. Yang, H. Al-Kateb, J. Chen, Jian Zhang, N. Hauser, T. Zhang, V. Tasic, P. Liu, X. Su, X. Pan, C. Liu, L. Wang, Joseph Shen, Jianxiong Shen, Y. Chen, T. Zhang, Jianguo Zhang, K.W. Choy, Jun Wang, Q. Wang, S. Li, W. Zhou, J. Guo, Y. Wang, C. Zhang, H. Zhao, Y. An, Y. Zhao, Jiucun Wang, Z. Liu, Y. Zuo, Y. Tian, X. Weng, V.R. Sutton, H. Wang, Y. Ming, S. Kulkarni, T.P. Zhong, P.F. Giampietro, S.L. Dunwoodie, S.W. Cheung, X. Zhang, L. Jin, J.R. Lupski, G. Qiu, F. Zhang
N Engl J Med.
Published in final edited form as: N Engl J Med. 2015 Jan 22; 372(4): 341–350. Published online 2015 Jan 7. doi: 10.1056/NEJMoa1406829
PMCID:
PMC4326244
3.
Pichet Termsarasab, Amy C. Yang, Jennifer Reiner, Hui Mei, Stuart A. Scott, Steven J. Frucht
Tremor Other Hyperkinet Mov (N Y) 2014; 4: 274. Published online 2014 Nov 17. doi: 10.7916/D8N58K0Q
PMCID:
PMC4303604
4.
Abid Y. Qureshi, Sophia Mueller, Abraham Z. Snyder, Pratik Mukherjee, Jeffrey I. Berman, Timothy P.L. Roberts, Srikantan S. Nagarajan, John E. Spiro, Wendy K. Chung, Elliott H. Sherr, Randy L. Buckner
J Neurosci. 2014 Aug 20; 34(34): 11199–11211. doi: 10.1523/JNEUROSCI.1366-14.2014
PMCID:
PMC4138332
5.
Erin B. Kaminsky, Vineith Kaul, Justin Paschall, Deanna M. Church, Brian Bunke, Dawn Kunig, Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Jennifer G. Mulle, Stephen T. Warren, Gabriele Richard, John G. Compton, Amy E. Fuller, Troy J. Gliem, Shuwen Huang, Morag N. Collinson, Sarah J. Beal, Todd Ackley, Diane L. Pickering, Denae M. Golden, Emily Aston, Heidi Whitby, Shashirekha Shetty, Michael R. Rossi, M. Katharine Rudd, Sarah T. South, Arthur R. Brothman, Warren G. Sanger, Ramaswamy K. Iyer, John A. Crolla, Erik C. Thorland, Swaroop Aradhya, David H. Ledbetter, Christa L. Martin
Genet Med.
Published in final edited form as: Genet Med. 2011 Sep; 13(9): 777–784. doi: 10.1097/GIM.0b013e31822c79f9
PMCID:
PMC3661946
6.
Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin G. Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D. Beckmann, Gudmar Thorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole De Leeuw, Bert B. A. De Vries, Tõnu Esko, Bridget A. Fernandez, Fernando Fernández-Aranda, José Manuel Fernández-Real, Mònica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo-Riitta Jarvelin, Frank R. Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S. Platt, Damien Sanlaville, Mieke M. Van Haelst, Sergi Villatoro Gomez, Faida Walha, Bai-Lin Wu, Yongguo Yu, Azzedine Aboura, Marie-Claude Addor, Yves Alembik, Stylianos E. Antonarakis, Benoît Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Beri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G. Brunner, Dorothée Cailley, Patrick Callier, Jean Chiesa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean-Marie Cuisset, Jean-Christophe Cuvellier, Albert David, Bénédicte De Freminville, Bruno Delobel, Marie-Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Klaus Dieterich, Vittoria Disciglio, Martine Doco-Fenzy, Séverine Drunat, Bénédicte Duban-Bedu, Christèle Dubourg, Julia S. El-Sayed Moustafa, Paul Elliott, Brigitte H. W. Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gerard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J. Grabe, Agnès Guichet, Olivier Guillin, Anna-Liisa Hartikainen, Délphine Heron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez-Murcia, Géraldine Joly Helas, Philippe Jonveaux, Satu Kaksonen, Boris Keren, Anita Kloss-Brandstätter, Nine V. A. M. Knoers, David A. Koolen, Peter M. Kroisel, Florian Kronenberg, Audrey Labalme, Emilie Landais, Elisabetta Lapi, Valérie Layet, Solenn Legallic, Bruno Leheup, Barbara Leube, Suzanne Lewis, Josette Lucas, Kay D. Macdermot, Pall Magnusson, Christian R. Marshall, Michèle Mathieu-Dramard, Mark I. Mccarthy, Thomas Meitinger, Maria Antonietta Mencarelli, Giuseppe Merla, Alexandre Moerman, Vincent Mooser, Fanny Morice-Picard, Mafalda Mucciolo, Matthias Nauck, Ndeye Coumba Ndiaye, Ann Nordgren, Laurent Pasquier, Florence Petit, Rolph Pfundt, Ghislaine Plessis, Evica Rajcan-Separovic, Gian Paolo Ramelli, Anita Rauch, Roberto Ravazzolo, Andre Reis, Alessandra Renieri, Cristobal Richart, Janina S. Ried, Claudine Rieubland, Wendy Roberts, Katharina M. Roetzer, Caroline Rooryck, Massimiliano Rossi, Evald Saemundsen, Véronique Satre, Claudia Schurmann, Engilbert Sigurdsson, Dimitri J. Stavropoulos, Hreinn Stefansson, Carola Tengström, Unnur Thorsteinsdóttir, Francisco J. Tinahones, Renaud Touraine, Louis Vallée, Ellen Van Binsbergen, Nathalie Van Der Aa, Catherine Vincent-Delorme, Sophie Visvikis-Siest, Peter Vollenweider, Henry Völzke, Anneke T. Vulto-Van Silfhout, Gérard Waeber, Carina Wallgren-Pettersson, Robert M. Witwicki, Simon Zwolinksi, Joris Andrieux, Xavier Estivill, James F. Gusella, Omar Gustafsson, Andres Metspalu, Stephen W. Scherer, Kari Stefansson, Alexandra I. F. Blakemore, Jacques S. Beckmann, Philippe Froguel
Nature.
Published in final edited form as: Nature. 2011 Oct; 478(7367): 97–102. Published online 2011 Aug 31. doi: 10.1038/nature10406
PMCID:
PMC3637175
7.
Flore Zufferey, Elliott H Sherr, Noam D Beckmann, Ellen Hanson, Anne M Maillard, Loyse Hippolyte, Aurélien Macé, Carina Ferrari, Zoltán Kutalik, Joris Andrieux, Elizabeth Aylward, Mandy Barker, Raphael Bernier, Sonia Bouquillon, Philippe Conus, Bruno Delobel, W Andrew Faucett, Robin P Goin-Kochel, Ellen Grant, Louise Harewood, Jill V Hunter, Sébastien Lebon, David H Ledbetter, Christa Lese Martin, Katrin Männik, Danielle Martinet, Pratik Mukherjee, Melissa B Ramocki, Sarah J Spence, Kyle J Steinman, Jennifer Tjernagel, John E Spiro, Alexandre Reymond, Jacques S Beckmann, Wendy K Chung, Sébastien Jacquemont, on behalf of the Simons VIP Consortium, on behalf of the 16p11.2 European Consortium
J Med Genet. 2012 Oct; 49(10): 660–668. doi: 10.1136/jmedgenet-2012-101203
PMCID:
PMC3494011
8.
Christelle Golzio, Jason Willer, Michael E Talkowski, Edwin C Oh, Yu Taniguchi, Sébastien Jacquemont, Alexandre Reymond, Mei Sun, Akira Sawa, James F Gusella, Atsushi Kamiya, Jacques S Beckmann, Nicholas Katsanis
Nature.
Published in final edited form as: Nature. 2012 May 17; 485(7398): 363–367. Published online 2012 May 16. doi: 10.1038/nature11091
PMCID:
PMC3366115
9.
Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha D.O. Roberson, Mark Hermann, Emily Quinn, James Maas, Robert Edwards, Tetsuo Ashizawa, Betul Baykan, Kailash Bhatia, Susan Bressman, Michiko K. Bruno, Ewout R. Brunt, Roberto Caraballo, Bernard Echenne, Natalio Fejerman, Steve Frucht, Christina A. Gurnett, Edouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R. Lynch, Shehla Mohamed, Ulrich Müller, Mark P. Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing-Wen Soong, Kathryn J. Swoboda, Sam Tucker, Nicholas Wood, Michael Hanna, Anne Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J. Ptáček
Cell Rep.
Published in final edited form as: Cell Rep. 2012 Jan 26; 1(1): 2–12. Published online 2011 Dec 15. doi: 10.1016/j.celrep.2011.11.001
PMCID:
PMC3334308
10.
Jingyun Li, Xilin Zhu, Xin Wang, Wei Sun, Bing Feng, Te Du, Bei Sun, Fenghe Niu, Hua Wei, Xiaopan Wu, Lei Dong, Liping Li, Xingqiu Cai, Yuping Wang, Ying Liu
J Med Genet. 2012 Feb; 49(2): 76–78. Published online 2011 Nov 30. doi: 10.1136/jmedgenet-2011-100635
PMCID:
PMC3261727
11.
Sarah E. Heron, Bronwyn E. Grinton, Sara Kivity, Zaid Afawi, Sameer M. Zuberi, James N. Hughes, Clair Pridmore, Bree L. Hodgson, Xenia Iona, Lynette G. Sadleir, James Pelekanos, Eric Herlenius, Hadassa Goldberg-Stern, Haim Bassan, Eric Haan, Amos D. Korczyn, Alison E. Gardner, Mark A. Corbett, Jozef Gécz, Paul Q. Thomas, John C. Mulley, Samuel F. Berkovic, Ingrid E. Scheffer, Leanne M. Dibbens
Am J Hum Genet. 2012 Jan 13; 90(1): 152–160. doi: 10.1016/j.ajhg.2011.12.003
PMCID:
PMC3257886
12.
Jun-Ling Wang, Li Cao, Xun-Hua Li, Zheng-Mao Hu, Jia-Da Li, Jian-Guo Zhang, Yu Liang, San-A, Nan Li, Su-Qin Chen, Ji-Feng Guo, Hong Jiang, Lu Shen, Lan Zheng, Xiao Mao, Wei-Qian Yan, Ying Zhou, Yu-Ting Shi, San-Xi Ai, Mei-Zhi Dai, Peng Zhang, Kun Xia, Sheng-Di Chen, Bei-Sha Tang
Brain. 2011 Dec; 134(12): 3490–3498. Published online 2011 Nov 25. doi: 10.1093/brain/awr289
PMCID:
PMC3235563
13.
Marwan Shinawi, Pengfei Liu, Sung-Hae L Kang, Joseph Shen, John W Belmont, Daryl A Scott, Frank J Probst, William J Craigen, Brett H Graham, Amber Pursley, Gary Clark, Jennifer Lee, Monica Proud, Amber Stocco, Diana L Rodriguez, Beth A Kozel, Steven Sparagana, Elizabeth R Roeder, Susan G McGrew, Thaddeus W Kurczynski, Leslie J Allison, Stephen Amato, Sarah Savage, Ankita Patel, Pawel Stankiewicz, Arthur L Beaudet, Sau Wai Cheung, James R Lupski
J Med Genet.
Published in final edited form as: J Med Genet. 2010 May; 47(5): 332–341. Published online 2009 Nov 12. doi: 10.1136/jmg.2009.073015
PMCID:
PMC3158566
14.
Jill A. Rosenfeld, Justine Coppinger, Bassem A. Bejjani, Santhosh Girirajan, Evan E. Eichler, Lisa G. Shaffer, Blake C. Ballif
J Neurodev Disord. 2010 Mar; 2(1): 26–38. Published online 2009 Nov 12. doi: 10.1007/s11689-009-9037-4
PMCID:
PMC3125720
15.
Elena G. Bochukova, Ni Huang, Julia Keogh, Elana Henning, Carolin Purmann, Kasia Blaszczyk, Sadia Saeed, Julian Hamilton-Shield, Jill Clayton-Smith, Stephen O’Rahilly, Matthew E. Hurles, I. Sadaf Farooqi
Nature.
Published in final edited form as: Nature. 2010 Feb 4; 463(7281): 666–670. Published online 2009 Dec 6. doi: 10.1038/nature08689
PMCID:
PMC3108883
16.
Christian P Schaaf, Robin P Goin-Kochel, Kerri P Nowell, Jill V Hunter, Kirk A Aleck, Sarah Cox, Ankita Patel, Carlos A Bacino, Marwan Shinawi
Eur J Hum Genet. 2011 Feb; 19(2): 152–156. Published online 2010 Oct 20. doi: 10.1038/ejhg.2010.168
PMCID:
PMC3025795
17.
Jonathan Sebat, B. Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese-Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, Alex Krasnitz, Jude Kendall, Anthony Leotta, Deepa Pai, Ray Zhang, Yoon-Ha Lee, James Hicks, Sarah J. Spence, Annette T. Lee, Kaija Puura, Terho Lehtimäki, David Ledbetter, Peter K. Gregersen, Joel Bregman, James S. Sutcliffe, Vaidehi Jobanputra, Wendy Chung, Dorothy Warburton, Mary-Claire King, David Skuse, Daniel H. Geschwind, T. Conrad Gilliam, Kenny Ye, Michael Wigler
Science.
Published in final edited form as: Science. 2007 Apr 20; 316(5823): 445–449. Published online 2007 Mar 15. doi: 10.1126/science.1138659
PMCID:
PMC2993504
18.
Shane McCarthy, Vladimir Makarov, George Kirov, Anjene Addington, Jon McClellan, Seungtai Yoon, Dianna Perkins, Diane E. Dickel, Mary Kusenda, Olga Krastoshevsky, Verena Krause, Ravinesh A. Kumar, Detelina Grozeva, Dheeraj Malhotra, Tom Walsh, Elaine H. Zackai, Paige Kaplan, Jaya Ganesh, Ian D. Krantz, Nancy B. Spinner, Patricia Roccanova, Abhishek Bhandari, Kevin Pavon, B. Lakshmi, Anthony Leotta, Jude Kendall, Yoon-ha Lee, Vladimir Vacic, Sydney Gary, Lilia Iakoucheva, Timothy J. Crow, Susan L. Christian, Jeffrey Lieberman, Scott Stroup, Terho Lehtimäki, Kaija Puura, Chad Haldeman-Englert, Justin Pearl, Meredith Goodell, Virginia L. Willour, Pamela DeRosse, Jo Steele, Layla Kassem, Jessica Wolff, Nisha Chitkara, Francis J. McMahon, Anil K. Malhotra, James B. Potash, Thomas G. Schulze, Markus M. Nöthen, Sven Cichon, Marcella Rietschel, Ellen Leibenluft, Vlad Kustanovich, Clara M. Lajonchere, James S. Sutcliffe, David Skuse, Michael Gill, Louise Gallagher, Nancy R. Mendell, Wellcome Trust Case Control Consortium, Nick Craddock, Michael J. Owen, Michael C. O’Donovan, Tamim H. Shaikh, Ezra Susser, Lynn E. DeLisi, Patrick F. Sullivan, Curtis K. Deutsch, Judith Rapoport, Deborah L. Levy, Mary-Claire King, Jonathan Sebat
Nat Genet.
Published in final edited form as: Nat Genet. 2009 Nov; 41(11): 1223–1227. Published online 2009 Oct 25. doi: 10.1038/ng.474
PMCID:
PMC2951180
19.
R. G. Walters, S. Jacquemont, A. Valsesia, A. J. de Smith, D. Martinet, J. Andersson, M. Falchi, F. Chen, J. Andrieux, S. Lobbens, B. Delobel, F. Stutzmann, J. S. El-Sayed Moustafa, J.-C. Chèvre, C. Lecoeur, V. Vatin, S. Bouquillon, J. L. Buxton, O. Boute, M. Holder-Espinasse, J.-M. Cuisset, M.-P. Lemaitre, A.-E. Ambresin, A. Brioshi, M. Gaillard, V. Giusti, F. Fellmann, A. Ferrarini, N. Hadjikhani, D. Campion, A. Guilmatre, A. Goldenberg, N. Calmels, J.-L. Mandel, C. Le Caignec, A. David, B. Isidor, M.-P. Cordier, S. Dupuis-Girod, A. Labalme, D. Sanlaville, M. Béri-Deixheimer, P. Jonveaux, B. Leheup, K. Õunap, E. G. Bochukova, E. Henning, J. Keogh, R. J. Ellis, K. D. MacDermot, C. Vincent-Delorme, G. Plessis, R. Touraine, A. Philippe, V. Malan, M. Mathieu-Dramard, J. Chiesa, B. Blaumeiser, R. F. Kooy, R. Caiazzo, M. Pigeyre, B. Balkau, R. Sladek, S. Bergmann, V. Mooser, D. Waterworth, A. Reymond, P. Vollenweider, G. Waeber, A. Kurg, P. Palta, T. Esko, A. Metspalu, M. Nelis, P. Elliott, A.-L. Hartikainen, M. I. McCarthy, L. Peltonen, L. Carlsson, P. Jacobson, L. Sjöström, N. Huang, M. E. Hurles, S. O’Rahilly, I. S. Farooqi, K. Männik, M.-R. Jarvelin, F. Pattou, D. Meyre, A. J. Walley, L. J. M. Coin, A. I. F. Blakemore, P. Froguel, J. S. Beckmann
Nature.
Published in final edited form as: Nature. 2010 Feb 4; 463(7281): 671–675. doi: 10.1038/nature08727
PMCID:
PMC2880448
20.
Heather C. Mefford, Gregory M. Cooper, Troy Zerr, Joshua D. Smith, Carl Baker, Neil Shafer, Erik C. Thorland, Cindy Skinner, Charles E. Schwartz, Deborah A. Nickerson, Evan E. Eichler
Genome Res. 2009 Sep; 19(9): 1579–1585. doi: 10.1101/gr.094987.109
PMCID:
PMC2752120

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