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Links from Nucleotide

Items: 13

1.
Michael J. Parker, Alan E. Fryer, Deborah J. Shears, Katherine L. Lachlan, Shane A. McKee, Alex C. Magee, Shehla Mohammed, Pradeep C. Vasudevan, Soo‐Mi Park, Valérie Benoit, Damien Lederer, Isabelle Maystadt, DDD study, David R. FitzPatrick
Am J Med Genet A. 2015 Oct; 167(10): 2231–2237. Published online 2015 Jun 15. doi: 10.1002/ajmg.a.37189
PMCID:
PMC4744742
2.
Stephanie A. Barnes, Lasani S. Wijetunge, Adam D. Jackson, Danai Katsanevaki, Emily K. Osterweil, Noboru H. Komiyama, Seth G.N. Grant, Mark F. Bear, U. Valentin Nägerl, Peter C. Kind, David J.A. Wyllie
J Neurosci. 2015 Nov 11; 35(45): 15073–15081. doi: 10.1523/JNEUROSCI.1087-15.2015
PMCID:
PMC4642239
3.
Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle, Jacinta M. McMahon, Brian J. O’Roak, Joseph Cook, Adiba Khan, Michael O Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoffrey Wallace, Thorsten Stanley, Ann M. E. Bye, Andrew Bleasel, Katherine B. Howell, Sara Kivity, Mark T. Mackay, Victoria Rodriguez-Casero, Richard Webster, Amos Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman-Sagie, Dorit Lev, Rikke S. Møller, Deepak Gill, Danielle M. Andrade, Jeremy L. Freeman, Lynette G. Sadleir, Jay Shendure, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford
Nat Genet.
Published in final edited form as: Nat Genet. 2013 Jul; 45(7): 825–830. Published online 2013 May 26. doi: 10.1038/ng.2646
PMCID:
PMC3704157
4.
John Hoon Rim, Se Hee Kim, In Sik Hwang, Soon Sung Kwon, Jieun Kim, Hyun Woo Kim, Min Jung Cho, Ara Ko, Song Ee Youn, Jihun Kim, Young Mock Lee, Hee Jung Chung, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang
BMC Med Genomics. 2018; 11: 6. Published online 2018 Feb 1. doi: 10.1186/s12920-018-0320-7
PMCID:
PMC5796507
5.
Silvia Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Blasco, Jean-Rémi Trotta, Sophia Derdak, Maria del Mar O’Callaghan, Àngels Garcia-Cazorla, Mercè Pineda, Judith Armstrong, Rett Working Group
Sci Rep. 2017; 7: 12288. Published online 2017 Sep 25. doi: 10.1038/s41598-017-11620-3
PMCID:
PMC5613000
6.
Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, The DDD Study, Taroh Kinoshita, Jenny C Taylor, Usha Kini
Eur J Hum Genet. 2017 Jun; 25(6): 669–679. Published online 2017 Mar 22. doi: 10.1038/ejhg.2017.32
PMCID:
PMC5477361
7.
Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek
BMC Med Genet. 2017; 18: 62. Published online 2017 Jun 2. doi: 10.1186/s12881-017-0425-4
PMCID:
PMC5457574
8.
Nathalie Fieremans, Hilde Van Esch, Maureen Holvoet, Gert Van Goethem, Koen Devriendt, Monica Rosello, Sonia Mayo, Francisco Martinez, Shalini Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Joris R. Vermeesch, Peter Marynen, Guy Froyen
Hum Mutat.
Published in final edited form as: Hum Mutat. 2016 Aug; 37(8): 804–811. Published online 2016 May 25. doi: 10.1002/humu.23012
PMCID:
PMC4940233
9.
Sarah L Sawyer, Jeremy Schwartzentruber, Chandree L Beaulieu, David Dyment, Amanda Smith, Jodi Warman Chardon, Grace Yoon, Guy A Rouleau, Oksana Suchowersky, Victoria Siu, Lisa Murphy, Robert A Hegele, Christian R Marshall, Dennis E Bulman, Jacek Majewski, Mark Tarnopolsky, Kym M Boycott
Hum Mutat. 2014 Jan; 35(1): 45–49. Published online 2013 Oct 1. doi: 10.1002/humu.22451
PMCID:
PMC4255313
10.
Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld, Bregje W.M. van Bon, Anneke T. Vulto-van Silfhout, Paolo Bosco, Kathryn L. Friend, Carl Baker, Serafino Buono, Lisenka E.L.M. Vissers, Janneke H. Schuurs-Hoeijmakers, Alex Hoischen, Rolph Pfundt, Nik Krumm, Gemma L. Carvill, Deana Li, David Amaral, Natasha Brown, Paul J. Lockhart, Ingrid E Scheffer, Antonino Alberti, Marie Shaw, Rosa Pettinato, Raymond Tervo, Nicole de Leeuw, Margot R.F. Reijnders, Beth S. Torchia, Hilde Peeters, Brian J. O'Roak, Marco Fichera, Jayne Y. Hehir-Kwa, Jay Shendure, Heather C. Mefford, Eric Haan, Jozef Gécz, Bert B.A. de Vries, Corrado Romano, Evan E. Eichler
Nat Genet.
Published in final edited form as: Nat Genet. 2014 Oct; 46(10): 1063–1071. Published online 2014 Sep 14. doi: 10.1038/ng.3092
PMCID:
PMC4177294
11.
Anthony C. Nichols, Michelle Chan-Seng-Yue, John Yoo, Wei Xu, Sandeep Dhaliwal, John Basmaji, Christopher C. T. Szeto, Samuel Dowthwaite, Biljana Todorovic, Maud H. W. Starmans, Philippe Lambin, David A. Palma, Kevin Fung, Jason H. Franklin, Bret Wehrli, Keith Kwan, James Koropatnick, Joe S. Mymryk, Paul Boutros, John W. Barrett
ISRN Oncol. 2012; 2012: 809370. Published online 2012 Dec 12. doi: 10.5402/2012/809370
PMCID:
PMC3530794
12.
Fadi F. Hamdan, Julie Gauthier, Yoichi Araki, Da-Ting Lin, Yuhki Yoshizawa, Kyohei Higashi, A-Reum Park, Dan Spiegelman, Sylvia Dobrzeniecka, Amélie Piton, Hideyuki Tomitori, Hussein Daoud, Christine Massicotte, Edouard Henrion, Ousmane Diallo, S2D Group, Masoud Shekarabi, Claude Marineau, Michael Shevell, Bruno Maranda, Grant Mitchell, Amélie Nadeau, Guy D'Anjou, Michel Vanasse, Myriam Srour, Ronald G. Lafrenière, Pierre Drapeau, Jean Claude Lacaille, Eunjoon Kim, Jae-Ran Lee, Kazuei Igarashi, Richard L. Huganir, Guy A. Rouleau, Jacques L. Michaud
Am J Hum Genet. 2011 Mar 11; 88(3): 306–316. doi: 10.1016/j.ajhg.2011.02.001
PMCID:
PMC3059427
13.
Fadi F. Hamdan, Julie Gauthier, Dan Spiegelman, Anne Noreau, Yan Yang, Stéphanie Pellerin, Sylvia Dobrzeniecka, Mélanie Côté, Elizabeth Perreau-Linck, Lionel Carmant, Guy D’Anjou, Éric Fombonne, Anjene M. Addington, Judith L. Rapoport, Lynn E. Delisi, Marie-Odile Krebs, Faycal Mouaffak, Ridha Joober, Laurent Mottron, Pierre Drapeau, Claude Marineau, Ronald G. Lafrenière, Jean Claude Lacaille, Guy A. Rouleau, Jacques L. Michaud
N Engl J Med.
Published in final edited form as: N Engl J Med. 2009 Feb 5; 360(6): 599–605. doi: 10.1056/NEJMoa0805392
Correction in:
volume 361 on page 1814
PMCID:
PMC2925262

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