U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Books

Items: 20

1.
Candace T. Myers, Georgina Hollingsworth, Alison M. Muir, Amy L. Schneider, Zoe Thuesmunn, Allison Knupp, Chontelle King, Amy Lacroix, Michele G. Mehaffey, Samuel F. Berkovic, Gemma L. Carvill, Lynette G. Sadleir, Ingrid E. Scheffer, Heather C. Mefford
N Engl J Med.
Published in final edited form as: N Engl J Med. 2018 Apr 26; 378(17): 1646–1648. doi: 10.1056/NEJMc1714579
PMCID:
PMC5966016
2.
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
3.
Mary Beth Stosser, Amanda S Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M Piccirillo-Stosser, Gabriele Richard, Dianalee A McKnight
Genet Med. 2018 Apr; 20(4): 403–410. Published online 2017 Aug 24. doi: 10.1038/gim.2017.114
PMCID:
PMC5895461
4.
Andrew E Fry, Katherine A Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A N Thompson, Lilach Shemer-Meiri, Thomas D Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo-Kyung Chung, Mark I Rees, Chirag V Patel, Louise A Brueton, Valérie Layet, Fabienne Giuliano, Michael P Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman-Sagie, Katherine L Helbig, Laura H Kofman, Kristin M Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A Swanger, Gil H Shaulsky, Ghayda M Mirzaa, Alison M Muir, Heather C Mefford, William B Dobyns, Amanda B Mackenzie, Jonathan G L Mullins, Johannes R Lemke, Nadia Bahi-Buisson, Stephen F Traynelis, Heledd F Iago, Daniela T Pilz
Brain. 2018 Mar; 141(3): 698–712. Published online 2018 Jan 22. doi: 10.1093/brain/awx358
PMCID:
PMC5837214
5.
Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O Heyne, Katherine L Helbig, Sha Tang, Marcia C Willing, Brad T Tinkle, Darius J Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M Strom, Heather C Mefford, Candace T Myers, Alison M Muir, Amy LaCroix, Lynette Sadleir, Ingrid E Scheffer, Eva Brilstra, Mieke M van Haelst, Jasper J van der Smagt, Levinus A Bok, Rikke S Møller, Uffe B Jensen, John J Millichap, Anne T Berg, Ethan M Goldberg, Isabelle De Bie, Stephanie Fox, Philippe Major, Julie R Jones, Elaine H Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J Leventer, John A Lawson, Tony Roscioli, Floor E Jansen, Emmanuelle Ranza, Christian M Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Douglas R Smith, Christine Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen-Hann Tan, Mark A Tarnopolsky, Lauren I Brady, Markus Wolff, Lutz Dondit, Helio F Pedro, Sarah E Parisotto, Kelly L Jones, Anup D Patel, David N Franz, Rena Vanzo, Elysa Marco, Judith D Ranells, Nataliya Di Donato, William B Dobyns, Bodo Laube, Stephen F Traynelis, Johannes R Lemke
J Med Genet.
Published in final edited form as: J Med Genet. 2017 Jul; 54(7): 460–470. Published online 2017 Apr 4. doi: 10.1136/jmedgenet-2016-104509
PMCID:
PMC5656050
6.
Daniëlle GM Bosch, F Nienke Boonstra, Nicole de Leeuw, Rolph Pfundt, Willy M Nillesen, Joep de Ligt, Christian Gilissen, Shalini Jhangiani, James R Lupski, Frans PM Cremers, Bert BA de Vries
Eur J Hum Genet. 2016 May; 24(5): 660–665. Published online 2015 Sep 9. doi: 10.1038/ejhg.2015.186
PMCID:
PMC4930090
7.
Detelina Grozeva, Keren Carss, Olivera Spasic‐Boskovic, Maria‐Isabel Tejada, Jozef Gecz, Marie Shaw, Mark Corbett, Eric Haan, Elizabeth Thompson, Kathryn Friend, Zaamin Hussain, Anna Hackett, Michael Field, Alessandra Renieri, Roger Stevenson, Charles Schwartz, James A.B. Floyd, Jamie Bentham, Catherine Cosgrove, Bernard Keavney, Shoumo Bhattacharya, Italian X‐linked Mental Retardation Project, UK10K Consortium, GOLD Consortium, Matthew Hurles, F. Lucy Raymond
Hum Mutat. 2015 Dec; 36(12): 1197–1204. Published online 2015 Sep 30. doi: 10.1002/humu.22901
PMCID:
PMC4833192
8.
Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K. Ruzzo, Yi-Fan Lu, K. Melodi McSweeney, Bruria Ben-Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi, Ryan S. Dhindsa, Yuki Hitomi, Kelly Schoch, Rebecca C. Spillmann, Gali Heimer, Dina Marek-Yagel, Michal Tzadok, Yujun Han, Gordon Worley, Jennifer Goldstein, Yong-Hui Jiang, Doron Lancet, Elon Pras, Vandana Shashi, Duncan McHale, Anna C. Need, David B. Goldstein
Genet Med. 2015 Oct; 17(10): 774–781. Published online 2015 Jan 15. doi: 10.1038/gim.2014.191
PMCID:
PMC4791490
9.
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
10.
Yujia Zhang, Weijing Kong, Yang Gao, Xiaoyan Liu, Kai Gao, Han Xie, Ye Wu, Yuehua Zhang, Jingmin Wang, Feng Gao, Xiru Wu, Yuwu Jiang
PLoS One. 2015; 10(11): e0141782. Published online 2015 Nov 6. doi: 10.1371/journal.pone.0141782
PMCID:
PMC4636363
11.
B. J. O'Roak, H. A. Stessman, E. A. Boyle, K. T. Witherspoon, B. Martin, C. Lee, L. Vives, C. Baker, J. B. Hiatt, D. A. Nickerson, R. Bernier, J. Shendure, E. E. Eichler
Nat Commun.
Published in final edited form as: Nat Commun. 2014; 5: 5595. Published online 2014 Nov 24. doi: 10.1038/ncomms6595
PMCID:
PMC4249945
12.
Johannes R Lemke, Rik Hendrickx, Kirsten Geider, Bodo Laube, Michael Schwake, Robert J Harvey, Victoria M James, Alex Pepler, Isabelle Steiner, Konstanze Hörtnagel, John Neidhardt, Susanne Ruf, Markus Wolff, Deborah Bartholdi, Roberto Caraballo, Konrad Platzer, Arvid Suls, Peter De Jonghe, Saskia Biskup, Sarah Weckhuysen
Ann Neurol. 2014 Jan; 75(1): 147–154. Published online 2014 Jan 2. doi: 10.1002/ana.24073
PMCID:
PMC4223934
13.
David R Adams, Hongjie Yuan, Todd Holyoak, Katrina H. Arajs, Parvin Hakimi, Thomas C Markello, Lynne A Wolfe, Thierry Vilboux, Barbara K Burton, Karin Fuentes Fajardo, George Grahame, Conisha Holloman, Murat Sincan, Ann C M Smith, Gordon A Wells, Yan Huang, Hugo Vega, James P Snyder, Gretchen A Golas, Cynthia J Tifft, Cornelius F Boerkoel, Richard W Hanson, Stephen F Traynelis, Douglas S Kerr, William A Gahl
Mol Genet Metab.
Published in final edited form as: Mol Genet Metab. 2014 Nov; 113(3): 161–170. Published online 2014 Apr 13. doi: 10.1016/j.ymgme.2014.04.001
PMCID:
PMC4219933
14.
Fadi F. Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo, Edouard Henrion, Alexandre Dionne-Laporte, Anne Fougerat, Alexey V. Pshezhetsky, Sunita Venkateswaran, Guy A. Rouleau, Jacques L. Michaud
PLoS Genet. 2014 Oct; 10(10): e1004772. Published online 2014 Oct 30. doi: 10.1371/journal.pgen.1004772
PMCID:
PMC4214635
15.
Epi4K and EPGP Investigators
Nature.
Published in final edited form as: Nature. 2013 Sep 12; 501(7466): 217–221. Published online 2013 Aug 11. doi: 10.1038/nature12439
PMCID:
PMC3773011
16.
Inga Freunscht, Bernt Popp, Rainer Blank, Sabine Endele, Ute Moog, Holger Petri, Eva-Christina Prott, Andre Reis, Jochen Rübo, Bernhard Zabel, Martin Zenker, Johannes Hebebrand, Dagmar Wieczorek
Behav Brain Funct. 2013; 9: 20. Published online 2013 May 29. doi: 10.1186/1744-9081-9-20
PMCID:
PMC3685602
17.
Brian J. O’Roak, Laura Vives, Wenqing Fu, Jarrett D. Egertson, Ian B. Stanaway, Ian G. Phelps, Gemma Carvill, Akash Kumar, Choli Lee, Katy Ankenman, Jeff Munson, Joseph B. Hiatt, Emily H. Turner, Roie Levy, Diana R. O’Day, Niklas Krumm, Bradley P. Coe, Beth K. Martin, Elhanan Borenstein, Deborah A. Nickerson, Heather C. Mefford, Dan Doherty, Joshua M. Akey, Raphael Bernier, Evan E. Eichler, Jay Shendure
Science.
Published in final edited form as: Science. 2012 Dec 21; 338(6114): 1619–1622. Published online 2012 Nov 15. doi: 10.1126/science.1227764
PMCID:
PMC3528801
18.
Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal, Vamsee Pillalamarri, Colby Chiang, Adrian Heilbut, Carl Ernst, Carrie Hanscom, Elizabeth Rossin, Amelia Lindgren, Shahrin Pereira, Douglas Ruderfer, Andrew Kirby, Stephan Ripke, David Harris, Ji-Hyun Lee, Kyungsoo Ha, Hyung-Goo Kim, Benjamin D. Solomon, Andrea L. Gropman, Diane Lucente, Katherine Sims, Toshiro K. Ohsumi, Mark L. Borowsky, Stephanie Loranger, Bradley Quade, Kasper Lage, Judith Miles, Bai-Lin Wu, Yiping Shen, Benjamin Neale, Lisa G. Shaffer, Mark J. Daly, Cynthia C. Morton, James F. Gusella
Cell.
Published in final edited form as: Cell. 2012 Apr 27; 149(3): 525–537. Published online 2012 Apr 19. doi: 10.1016/j.cell.2012.03.028
PMCID:
PMC3340505
19.
J Tarabeux, O Kebir, J Gauthier, F F Hamdan, L Xiong, A Piton, D Spiegelman, É Henrion, B Millet, S2D team, F Fathalli, R Joober, J L Rapoport, L E DeLisi, É Fombonne, L Mottron, N Forget-Dubois, M Boivin, J L Michaud, P Drapeau, R G Lafrenière, G A Rouleau, M-O Krebs
Transl Psychiatry. 2011 Nov; 1(11): e55. Published online 2011 Nov 15. doi: 10.1038/tp.2011.52
PMCID:
PMC3309470
20.
Stephen F. Traynelis, Lonnie P. Wollmuth, Chris J. McBain, Frank S. Menniti, Katie M. Vance, Kevin K. Ogden, Kasper B. Hansen, Hongjie Yuan, Scott J. Myers, Ray Dingledine
Pharmacol Rev. 2010 Sep; 62(3): 405–496. doi: 10.1124/pr.109.002451
PMCID:
PMC2964903

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center