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Items: 17

1.
José Cánovas, F. Andrés Berndt, Hugo Sepúlveda, Rodrigo Aguilar, Felipe A. Veloso, Martín Montecino, Carlos Oliva, Juan C. Maass, Jimena Sierralta, Manuel Kukuljan
J Neurosci. 2015 May 13; 35(19): 7552–7564. doi: 10.1523/JNEUROSCI.0169-15.2015
PMCID:
PMC6705430
2.
Tomasz J. Nowakowski, Aparna Bhaduri, Alex A. Pollen, Beatriz Alvarado, Mohammed A. Mostajo-Radji, Elizabeth Di Lullo, Maximilian Haeussler, Carmen Sandoval-Espinosa, Siyuan John Liu, Dmitry Velmeshev, Johain Ryad Ounadjela, Joe Shuga, Xiaohui Wang, Daniel A. Lim, Jay A. West, Anne A. Leyrat, W. James Kent, Arnold R. Kriegstein
Science.
Published in final edited form as: Science. 2017 Dec 8; 358(6368): 1318–1323. doi: 10.1126/science.aap8809
PMCID:
PMC5991609
3.
TW Fitzgerald, SS Gerety, WD Jones, M van Kogelenberg, DA King, J McRae, KI Morley, V Parthiban, S Al-Turki, K Ambridge, DM Barrett, T Bayzetinova, S Clayton, EL Coomber, S Gribble, P Jones, N Krishnappa, LE Mason, A Middleton, R Miller, E Prigmore, D Rajan, A Sifrim, AR Tivey, M Ahmed, N Akawi, R Andrews, U Anjum, H Archer, R Armstrong, M Balasubramanian, R Banerjee, D Baralle, P Batstone, D Baty, C Bennett, J Berg, B Bernhard, AP Bevan, E Blair, M Blyth, D Bohanna, L Bourdon, D Bourn, A Brady, E Bragin, C Brewer, L Brueton, K Brunstrom, SJ Bumpstead, DJ Bunyan, J Burn, J Burton, N Canham, B Castle, K Chandler, S Clasper, J Clayton-Smith, T Cole, A Collins, MN Collinson, F Connell, N Cooper, H Cox, L Cresswell, G Cross, Y Crow, M D’Alessandro, T Dabir, R Davidson, S Davies, J Dean, C Deshpande, G Devlin, A Dixit, A Dominiczak, C Donnelly, D Donnelly, A Douglas, A Duncan, J Eason, S Edkins, S Ellard, P Ellis, F Elmslie, K Evans, S Everest, T Fendick, R Fisher, F Flinter, N Foulds, A Fryer, B Fu, C Gardiner, L Gaunt, N Ghali, R Gibbons, SL Gomes Pereira, J Goodship, D Goudie, E Gray, P Greene, L Greenhalgh, L Harrison, R Hawkins, S Hellens, A Henderson, E Hobson, S Holden, S Holder, G Hollingsworth, T Homfray, M Humphreys, J Hurst, S Ingram, M Irving, J Jarvis, L Jenkins, D Johnson, D Jones, E Jones, D Josifova, S Joss, B Kaemba, S Kazembe, B Kerr, U Kini, E Kinning, G Kirby, C Kirk, E Kivuva, A Kraus, D Kumar, K Lachlan, W Lam, A Lampe, C Langman, M Lees, D Lim, G Lowther, SA Lynch, A Magee, E Maher, S Mansour, K Marks, K Martin, U Maye, E McCann, V McConnell, M McEntagart, R McGowan, K McKay, S McKee, DJ McMullan, S McNerlan, S Mehta, K Metcalfe, E Miles, S Mohammed, T Montgomery, D Moore, S Morgan, A Morris, J Morton, H Mugalaasi, V Murday, L Nevitt, R Newbury-Ecob, A Norman, R O'Shea, C Ogilvie, S Park, MJ Parker, C Patel, J Paterson, S Payne, J Phipps, DT Pilz, D Porteous, N Pratt, K Prescott, S Price, A Pridham, A Procter, H Purnell, N Ragge, J Rankin, L Raymond, D Rice, L Robert, E Roberts, G Roberts, J Roberts, P Roberts, A Ross, E Rosser, A Saggar, S Samant, R Sandford, A Sarkar, S Schweiger, C Scott, R Scott, A Selby, A Seller, C Sequeira, N Shannon, S Sharif, C Shaw-Smith, E Shearing, D Shears, I Simonic, D Simpkin, R Singzon, Z Skitt, A Smith, B Smith, K Smith, S Smithson, L Sneddon, M Splitt, M Squires, F Stewart, H Stewart, M Suri, V Sutton, GJ Swaminathan, E Sweeney, K Tatton-Brown, C Taylor, R Taylor, M Tein, IK Temple, J Thomson, J Tolmie, A Torokwa, B Treacy, C Turner, P Turnpenny, C Tysoe, A Vandersteen, P Vasudevan, J Vogt, E Wakeling, D Walker, J Waters, A Weber, D Wellesley, M Whiteford, S Widaa, S Wilcox, D Williams, N Williams, G Woods, C Wragg, M Wright, F Yang, M Yau, NP Carter, M Parker, HV Firth, DR FitzPatrick, CF Wright, JC Barrett, ME Hurles
Nature.
Published in final edited form as: Nature. 2015 Mar 12; 519(7542): 223–228. Published online 2014 Dec 24. doi: 10.1038/nature14135
PMCID:
PMC5955210
4.
Nan Liu, Victoria V. Hargreaves, Qian Zhu, Jesse V. Kurland, Jiyoung Hong, Woojin Kim, Falak Sher, Claudio Macias-Trevino, Julia M. Rogers, Ryo Kurita, Yukio Nakamura, Guo-Cheng Yuan, Daniel E. Bauer, Jian Xu, Martha L. Bulyk, Stuart H. Orkin
Cell.
Published in final edited form as: Cell. 2018 Apr 5; 173(2): 430–442.e17. Published online 2018 Mar 29. doi: 10.1016/j.cell.2018.03.016
PMCID:
PMC5889339
5.
Julie Soblet, Ivan Dimov, Clemens Graf von Kalckreuth, Julie Cano‐Chervel, Simon Baijot, Karin Pelc, Martine Sottiaux, Catheline Vilain, Guillaume Smits, Nicolas Deconinck
Am J Med Genet A. 2018 Jan; 176(1): 201–208. Published online 2017 Sep 27. doi: 10.1002/ajmg.a.38479
PMCID:
PMC5765401
6.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth R Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang, Karen Karapetyan, Kenneth Katz, Chunlei Liu, Zenith Maddipatla, Adriana Malheiro, Kurt McDaniel, Michael Ovetsky, George Riley, George Zhou, J Bradley Holmes, Brandi L Kattman, Donna R Maglott
Nucleic Acids Res. 2018 Jan 4; 46(Database issue): D1062–D1067. Published online 2017 Nov 20. doi: 10.1093/nar/gkx1153
PMCID:
PMC5753237
7.
Hiroko Shimbo, Takayuki Yokoi, Noriko Aida, Seiji Mizuno, Hiroshi Suzumura, Junichi Nagai, Kazumi Ida, Yumi Enomoto, Chihiro Hatano, Kenji Kurosawa
Mol Genet Genomic Med. 2017 Jul; 5(4): 429–437. Published online 2017 May 22. doi: 10.1002/mgg3.289
PMCID:
PMC5511803
8.
Hani Bagheri, Chansonette Badduke, Ying Qiao, Rita Colnaghi, Iga Abramowicz, Diana Alcantara, Christopher Dunham, Jiadi Wen, Robert S. Wildin, Malgorzata J.M. Nowaczyk, Jennifer Eichmeyer, Anna Lehman, Bruno Maranda, Sally Martell, Xianghong Shan, Suzanne M.E. Lewis, Mark O’Driscoll, Cheryl Y. Gregory-Evans, Evica Rajcan-Separovic
JCI Insight. 2016 Mar 17; 1(3): e85461. Published online 2016 Mar 17. doi: 10.1172/jci.insight.85461
PMCID:
PMC5033885
9.
Cristina Dias, Sara B. Estruch, Sarah A. Graham, Jeremy McRae, Stephen J. Sawiak, Jane A. Hurst, Shelagh K. Joss, Susan E. Holder, Jenny E.V. Morton, Claire Turner, Julien Thevenon, Kelly Mellul, Gabriela Sánchez-Andrade, Ximena Ibarra-Soria, Pelagia Deriziotis, Rui F. Santos, Song-Choon Lee, Laurence Faivre, Tjitske Kleefstra, Pentao Liu, Mathew E. Hurles, DDD Study, Simon E. Fisher, Darren W. Logan
Am J Hum Genet. 2016 Aug 4; 99(2): 253–274. Published online 2016 Jul 21. doi: 10.1016/j.ajhg.2016.05.030
PMCID:
PMC4974071
10.
Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles
Nat Genet.
Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469
PMCID:
PMC4731925
11.
Silvia De Rubeis, Xin He, Arthur P. Goldberg, Christopher S. Poultney, Kaitlin Samocha, A Ercument Cicek, Yan Kou, Li Liu, Menachem Fromer, Susan Walker, Tarjinder Singh, Lambertus Klei, Jack Kosmicki, Shih-Chen Fu, Branko Aleksic, Monica Biscaldi, Patrick F. Bolton, Jessica M. Brownfeld, Jinlu Cai, Nicholas J. Campbell, Angel Carracedo, Maria H. Chahrour, Andreas G. Chiocchetti, Hilary Coon, Emily L. Crawford, Lucy Crooks, Sarah R. Curran, Geraldine Dawson, Eftichia Duketis, Bridget A. Fernandez, Louise Gallagher, Evan Geller, Stephen J. Guter, R. Sean Hill, Iuliana Ionita-Laza, Patricia Jimenez Gonzalez, Helena Kilpinen, Sabine M. Klauck, Alexander Kolevzon, Irene Lee, Jing Lei, Terho Lehtimäki, Chiao-Feng Lin, Avi Ma'ayan, Christian R. Marshall, Alison L. McInnes, Benjamin Neale, Michael J. Owen, Norio Ozaki, Mara Parellada, Jeremy R. Parr, Shaun Purcell, Kaija Puura, Deepthi Rajagopalan, Karola Rehnström, Abraham Reichenberg, Aniko Sabo, Michael Sachse, Stephan J. Sanders, Chad Schafer, Martin Schulte-Rüther, David Skuse, Christine Stevens, Peter Szatmari, Kristiina Tammimies, Otto Valladares, Annette Voran, Li-San Wang, Lauren A. Weiss, A. Jeremy Willsey, Timothy W. Yu, Ryan K.C. Yuen, the DDD Study, Homozygosity Mapping Collaborative for Autism, UK10K Consortium, the Autism Sequencing Consortium, Edwin H. Cook, Christine M. Freitag, Michael Gill, Christina M. Hultman, Thomas Lehner, Aarno Palotie, Gerard D. Schellenberg, Pamela Sklar, Matthew W. State, James S. Sutcliffe, Christopher A. Walsh, Stephen W. Scherer, Michael E. Zwick, Jeffrey C. Barrett, David J. Cutler, Kathryn Roeder, Bernie Devlin, Mark J. Daly, Joseph D. Buxbaum
Nature.
Published in final edited form as: Nature. 2014 Nov 13; 515(7526): 209–215. Published online 2014 Oct 29. doi: 10.1038/nature13772
PMCID:
PMC4402723
12.
Ivan Iossifov, Brian J. O’Roak, Stephan J. Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A. Stessman, Kali Witherspoon, Laura Vives, Karynne E. Patterson, Joshua D. Smith, Bryan Paeper, Deborah A. Nickerson, Jeanselle Dea, Shan Dong, Luis E. Gonzalez, Jefferey D. Mandell, Shrikant M. Mane, Michael T. Murtha, Catherine A. Sullivan, Michael F. Walker, Zainulabedin Waqar, Liping Wei, A. Jeremy Willsey, Boris Yamrom, Yoon-ha Lee, Ewa Grabowska, Ertugrul Dalkic, Zihua Wang, Steven Marks, Peter Andrews, Anthony Leotta, Jude Kendall, Inessa Hakker, Julie Rosenbaum, Beicong Ma, Linda Rodgers, Jennifer Troge, Giuseppe Narzisi, Seungtai Yoon, Michael C. Schatz, Kenny Ye, W. Richard McCombie, Jay Shendure, Evan E. Eichler, Matthew W. State, Michael Wigler
Nature.
Published in final edited form as: Nature. 2014 Nov 13; 515(7526): 216–221. Published online 2014 Oct 29. doi: 10.1038/nature13908
PMCID:
PMC4313871
13.
Carolina J. Jorgez, Jill A. Rosenfeld, Nathan R. Wilken, Hima V. Vangapandu, Aysegul Sahin, Dung Pham, Claudia M. B. Carvalho, Anne Bandholz, Amanda Miller, David D. Weaver, Barbara Burton, Deepti Babu, John S. Bamforth, Timothy Wilks, Daniel P. Flynn, Elizabeth Roeder, Ankita Patel, Sau W. Cheung, James R. Lupski, Dolores J. Lamb
PLoS One. 2014; 9(9): e107028. Published online 2014 Sep 9. doi: 10.1371/journal.pone.0107028
PMCID:
PMC4159299
14.
Cigall Kadoch, Diana C. Hargreaves, Courtney Hodges, Laura Elias, Lena Ho, Jeff Ranish, Gerald R. Crabtree
Nat Genet.
Published in final edited form as: Nat Genet. 2013 May 5; 45(6): 592–601. Published online 2013 May 5. doi: 10.1038/ng.2628
PMCID:
PMC3667980
15.
Daniel E. Bauer, Stuart H. Orkin
Curr Opin Pediatr.
Published in final edited form as: Curr Opin Pediatr. 2011 Feb; 23(1): 1–8. doi: 10.1097/MOP.0b013e3283420fd0
PMCID:
PMC3092400
16.
Helen V. Firth, Shola M. Richards, A. Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M. Pettett, Nigel P. Carter
Am J Hum Genet. 2009 Apr 10; 84(4): 524–533. doi: 10.1016/j.ajhg.2009.03.010
PMCID:
PMC2667985
17.
E Rajcan‐Separovic, C Harvard, X Liu, B McGillivray, J G Hall, Y Qiao, J Hurlburt, J Hildebrand, E C R Mickelson, J J A Holden, M E S Lewis
J Med Genet. 2007 Apr; 44(4): 269–276. Published online 2006 Sep 8. doi: 10.1136/jmg.2006.045013
PMCID:
PMC2598046

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