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Items: 13

1.
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
2.
Michael S. Breen, Paras Garg, Lara Tang, Danielle Mendonca, Tess Levy, Mafalda Barbosa, Anne B. Arnett, Evangeline Kurtz-Nelson, Emanuele Agolini, Agatino Battaglia, Andreas G. Chiocchetti, Christine M. Freitag, Alicia Garcia-Alcon, Paola Grammatico, Irva Hertz-Picciotto, Yunin Ludena-Rodriguez, Carmen Moreno, Antonio Novelli, Mara Parellada, Giulia Pascolini, Flora Tassone, Dorothy E. Grice, Daniele Di Marino, Raphael A. Bernier, Alexander Kolevzon, Andrew J. Sharp, Joseph D. Buxbaum, Paige M. Siper, Silvia De Rubeis
Am J Hum Genet. 2020 Sep 3; 107(3): 555–563. Published online 2020 Aug 5. doi: 10.1016/j.ajhg.2020.07.003
PMCID:
PMC7477006
3.
Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine Zackai, Paul Mark, Hakon Hakonarson, Laurie A. Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadikovic
Clin Epigenetics. 2019; 11: 64. Published online 2019 Apr 27. doi: 10.1186/s13148-019-0658-5
PMCID:
PMC6487024
4.
Anke Van Dijck, Anneke T. Vulto-van Silfhout, Elisa Cappuyns, Ilse M. van der Werf, Grazia M. Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E. Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, ADNP Consortium, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld, Marije E. Meuwissen, Geert Vandeweyer, R. Frank Kooy
Biol Psychiatry.
Published in final edited form as: Biol Psychiatry. 2019 Feb 15; 85(4): 287–297. Published online 2018 Mar 15. doi: 10.1016/j.biopsych.2018.02.1173
PMCID:
PMC6139063
5.
Minh-Tuan Huynh, Elise Boudry-Labis, Alfred Massard, Caroline Thuillier, Bruno Delobel, Bénédicte Duban-Bedu, Catherine Vincent-Delorme
Eur J Hum Genet. 2018 Oct; 26(10): 1497–1501. Published online 2018 Jun 13. doi: 10.1038/s41431-018-0165-8
PMCID:
PMC6138634
6.
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
7.
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
8.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
9.
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
10.
Geert Vandeweyer, Céline Helsmoortel, Anke Van Dijck, Anneke T. Vulto-van Silfhout, Bradley P. Coe, Raphael Bernier, Jennifer Gerdts, Liesbeth Rooms, Madhura Bakshi, Jenneke van den Ende, Meredith Wilson, Ann Nordgren, Laura G. Hendon, Omar A. Abdulrahman, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, Evan E. Eichler, Nathalie Van der Aa, R. Frank Kooy
Am J Med Genet C Semin Med Genet.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2014 Sep; 166(3): 315–326. Published online 2014 Aug 28. doi: 10.1002/ajmg.c.31413
PMCID:
PMC4195434
11.
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
12.
Matthew F Pescosolido, Matthew Schwede, Ashley Johnson Harrison, Michael Schmidt, Ece D Gamsiz, Wendy S Chen, John P Donahue, Natasha Shur, Beth A Jerskey, Chanika Phornphutkul, Eric M Morrow
J Med Genet. 2014 Sep; 51(9): 587–589. Published online 2014 Jul 23. doi: 10.1136/jmedgenet-2014-102444
PMCID:
PMC4135390
13.
Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe, Geert Vandeweyer, Liesbeth Rooms, Jenneke van den Ende, Janneke H.M. Schuurs-Hoeijmakers, Carlo L. Marcelis, Marjolein H. Willemsen, Lisenka E.L.M. Vissers, Helger G. Yntema, Madhura Bakshi, Meredith Wilson, Kali T Witherspoon, Helena Malmgren, Ann Nordgren, Göran Annerén, Marco Fichera, Paolo Bosco, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, R. Frank Kooy, Evan E. Eichler, Nathalie Van der Aa
Nat Genet.
Published in final edited form as: Nat Genet. 2014 Apr; 46(4): 380–384. Published online 2014 Feb 16. doi: 10.1038/ng.2899
PMCID:
PMC3990853

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