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Items: 11

1.
Saumya S. Jamuar, Anh-Thu N. Lam, Martin Kircher, Alissa M. D'Gama, Jian Wang, Brenda J. Barry, Xiaochang Zhang, Robert Sean Hill, Jennifer N. Partlow, Aldo Rozzo, Sarah Servattalab, Bhaven K. Mehta, Meral Topcu, Dina Amrom, Eva Andermann, Bernard Dan, Elena Parrini, Renzo Guerrini, Ingrid E. Scheffer, Samuel F. Berkovic, Richard J. Leventer, Yiping Shen, Bai Lin Wu, A. James Barkovich, Mustafa Sahin, Bernard S. Chang, Michael Bamshad, Deborah A. Nickerson, Jay Shendure, Annapurna Poduri, Timothy W. Yu, Christopher A. Walsh
N Engl J Med.
Published in final edited form as: N Engl J Med. 2014 Aug 21; 371(8): 733–743. doi: 10.1056/NEJMoa1314432
PMCID:
PMC4274952
2.
Eyal Reinstein, Sophia Frentz, Tim Morgan, Sixto García-Miñaúr, Richard J Leventer, George McGillivray, Mitchel Pariani, Anthony van der Steen, Michael Pope, Muriel Holder-Espinasse, Richard Scott, Elizabeth M Thompson, Terry Robertson, Brian Coppin, Robert Siegel, Montserrat Bret Zurita, Jose I Rodríguez, Carmen Morales, Yuri Rodrigues, Joaquín Arcas, Anand Saggar, Margaret Horton, Elaine Zackai, John M Graham, David L Rimoin, Stephen P Robertson
Eur J Hum Genet. 2013 May; 21(5): 494–502. Published online 2012 Oct 3. doi: 10.1038/ejhg.2012.209
PMCID:
PMC3641385
3.
K.R. Clapham, T.W. Yu, V.S. Ganesh, B. Barry, Y. Chan, D. Mei, E. Parrini, B. Funalot, L. Dupuis, M.M. Nezarati, C. du Souich, C. van Karnebeek, R. Guerrini, C.A. Walsh
Neurology. 2012 Jan 24; 78(4): 269–278. doi: 10.1212/WNL.0b013e31824365e4
PMCID:
PMC3280053
4.
Marie Claire Y. de Wit, Irenaeus F. M. de Coo, Maarten H. Lequin, Dicky J. J. Halley, Jolien W. Roos-Hesselink, Grazia M. S. Mancini
Clin Res Cardiol. 2011 Jan; 100(1): 45–50. Published online 2010 Aug 22. doi: 10.1007/s00392-010-0206-y
PMCID:
PMC3022162
5.
Christopher A. Walsh, Elizabeth C. Engle
Neuron.
Published in final edited form as: Neuron. 2010 Oct 21; 68(2): 245–253. doi: 10.1016/j.neuron.2010.09.042
PMCID:
PMC3010396
6.
M. C. Y. de Wit, I. F. M. de Coo, D. J. J. Halley, M. H. Lequin, G. M. S. Mancini
Neurogenetics. 2009 Oct; 10(4): 333–336. Published online 2009 Apr 22. doi: 10.1007/s10048-009-0192-2
PMCID:
PMC2758209
7.
Russell J. Ferland, Luis Federico Batiz, Jason Neal, Gewei Lian, Elizabeth Bundock, Jie Lu, Yi-Chun Hsiao, Rachel Diamond, Davide Mei, Alison H. Banham, Philip J. Brown, Charles R. Vanderburg, Jeffrey Joseph, Jonathan L. Hecht, Rebecca Folkerth, Renzo Guerrini, Christopher A. Walsh, Esteban M. Rodriguez, Volney L. Sheen
Hum Mol Genet. 2009 Feb 1; 18(3): 497–516. Published online 2008 Nov 7. doi: 10.1093/hmg/ddn377
PMCID:
PMC2722192
8.
U Hehr, A Hehr, G Uyanik, E Phelan, J Winkler, W Reardon
J Med Genet. 2006 Jun; 43(6): 541–544. Published online 2005 Nov 18. doi: 10.1136/jmg.2005.038505
PMCID:
PMC2564542
9.
Ilka Ott, Edgar G. Fischer, Yohei Miyagi, Barbara M. Mueller, Wolfram Ruf
J Cell Biol. 1998 Mar 9; 140(5): 1241–1253.
PMCID:
PMC2132689
10.
Yuanyi Feng, Ming Hui Chen, Ivan P. Moskowitz, Ashley M. Mendonza, Luis Vidali, Fumihiko Nakamura, David J. Kwiatkowski, Christopher A. Walsh
Proc Natl Acad Sci U S A. 2006 Dec 26; 103(52): 19836–19841. Published online 2006 Dec 15. doi: 10.1073/pnas.0609628104
PMCID:
PMC1702530

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