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Items: 14

1.
Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang, Bethany L. Johnson-Kerner, Lindsey A. Suit, Srivats Venkataramanan, Charles J. Sheehan, Fernando C. Alsina, Brieana Fregeau, Kimberly A. Aldinger, Ching Moey, Iryna Lobach, Alexandra Afenjar, Dusica Babovic-Vuksanovic, Stéphane Bézieau, Patrick R. Blackburn, Jens Bunt, Lydie Burglen, Philippe M. Campeau, Perrine Charles, Brian H.Y. Chung, Benjamin Cogné, Cynthia Curry, Maria Daniela D’Agostino, Nataliya Di Donato, Laurence Faivre, Delphine Héron, A. Micheil Innes, Bertrand Isidor, Boris Keren, Amy Kimball, Eric W. Klee, Paul Kuentz, Sébastien Küry, Dominique Martin-Coignard, Ghayda Mirzaa, Cyril Mignot, Noriko Miyake, Naomichi Matsumoto, Atsushi Fujita, Caroline Nava, Mathilde Nizon, Diana Rodriguez, Lot Snijders Blok, Christel Thauvin-Robinet, Julien Thevenon, Marie Vincent, Alban Ziegler, William Dobyns, Linda J. Richards, A. James Barkovich, Stephen N. Floor, Debra L. Silver, Elliott H. Sherr
Neuron.
Published in final edited form as: Neuron. 2020 May 6; 106(3): 404–420.e8. Published online 2020 Mar 4. doi: 10.1016/j.neuron.2020.01.042
PMCID:
PMC7331285
2.
Marcello Scala, Annalaura Torella, Mariasavina Severino, Giovanni Morana, Raffaele Castello, Andrea Accogli, Antonio Verrico, Maria Stella Vari, Gerarda Cappuccio, Michele Pinelli, Giuseppina Vitiello, Gaetano Terrone, Alessandra D’Amico, TUDP consortium, Vincenzo Nigro, Valeria Capra
Eur J Hum Genet. 2019 Aug; 27(8): 1254–1259. Published online 2019 Apr 1. doi: 10.1038/s41431-019-0392-7
PMCID:
PMC6777618
3.
Marco Garieri, Georgios Stamoulis, Xavier Blanc, Emilie Falconnet, Pascale Ribaux, Christelle Borel, Federico Santoni, Stylianos E. Antonarakis
Proc Natl Acad Sci U S A. 2018 Dec 18; 115(51): 13015–13020. Published online 2018 Dec 3. doi: 10.1073/pnas.1806811115
PMCID:
PMC6304968
4.
Xia Wang, Jennifer E. Posey, Jill A. Rosenfeld, Carlos A. Bacino, Fernando Scaglia, LaDonna Immken, Jill M. Harris, Scott E. Hickey, Theresa M. Mosher, Anne Slavotinek, Jing Zhang, Joke Beuten, Magalie S. Leduc, Weimin He, Francesco Vetrini, Magdalena A. Walkiewicz, Weimin Bi, Rui Xiao, Pengfei Liu, Yunru Shao, Alper Gezdirici, Elif Y. Gulec, Yunyun Jiang, Sandra A. Darilek, Adam W. Hansen, Michael M. Khayat, Davut Pehlivan, Juliette Piard, Donna M. Muzny, Neil Hanchard, John W. Belmont, Lionel Van Maldergem, Richard A. Gibbs, Mohammad K. Eldomery, Zeynep C. Akdemir, Adekunle M. Adesina, Shan Chen, Yi‐Chien Lee, Undiagnosed Diseases Network, Brendan Lee, James R. Lupski, Christine M. Eng, Fan Xia, Yaping Yang, Brett H. Graham, Paolo Moretti
Ann Clin Transl Neurol. 2018 Oct; 5(10): 1277–1285. Published online 2018 Sep 15. doi: 10.1002/acn3.622
PMCID:
PMC6186933
5.
Sebastian Markmiller, Sahar Soltanieh, Kari L. Server, Raymond Mak, Wenhao Jin, Mark Y. Fang, En-Ching Luo, Florian Krach, Dejun Yang, Anindya Sen, Amit Fulzele, Jacob M. Wozniak, David J. Gonzalez, Mark W. Kankel, Fen-Biao Gao, Eric J. Bennett, Eric Lécuyer, Gene W. Yeo
Cell.
Published in final edited form as: Cell. 2018 Jan 25; 172(3): 590–604.e13. doi: 10.1016/j.cell.2017.12.032
PMCID:
PMC5969999
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.
Georgios Kellaris, Kamal Khan, Shahid M. Baig, I-Chun Tsai, Francisca Millan Zamora, Paul Ruggieri, Marvin R. Natowicz, Nicholas Katsanis
Hum Genomics. 2018; 12: 11. Published online 2018 Mar 1. doi: 10.1186/s40246-018-0141-y
PMCID:
PMC5831694
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.
Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R.F. Reijnders, Hanka Venselaar, Céline Helsmoortel, Megan T. Cho, Alexander Hoischen, Lisenka E.L.M. Vissers, Tom S. Koemans, Willemijn Wissink-Lindhout, Evan E. Eichler, Corrado Romano, Hilde Van Esch, Connie Stumpel, Maaike Vreeburg, Eric Smeets, Karin Oberndorff, Bregje W.M. van Bon, Marie Shaw, Jozef Gecz, Eric Haan, Melanie Bienek, Corinna Jensen, Bart L. Loeys, Anke Van Dijck, A. Micheil Innes, Hilary Racher, Sascha Vermeer, Nataliya Di Donato, Andreas Rump, Katrina Tatton-Brown, Michael J. Parker, Alex Henderson, Sally A. Lynch, Alan Fryer, Alison Ross, Pradeep Vasudevan, Usha Kini, Ruth Newbury-Ecob, Kate Chandler, Alison Male, the DDD Study, Sybe Dijkstra, Jolanda Schieving, Jacques Giltay, Koen L.I. van Gassen, Janneke Schuurs-Hoeijmakers, Perciliz L. Tan, Igor Pediaditakis, Stefan A. Haas, Kyle Retterer, Patrick Reed, Kristin G. Monaghan, Eden Haverfield, Marvin Natowicz, Angela Myers, Michael C. Kruer, Quinn Stein, Kevin A. Strauss, Karlla W. Brigatti, Katherine Keating, Barbara K. Burton, Katherine H. Kim, Joel Charrow, Jennifer Norman, Audrey Foster-Barber, Antonie D. Kline, Amy Kimball, Elaine Zackai, Margaret Harr, Joyce Fox, Julie McLaughlin, Kristin Lindstrom, Katrina M. Haude, Kees van Roozendaal, Han Brunner, Wendy K. Chung, R. Frank Kooy, Rolph Pfundt, Vera Kalscheuer, Sarju G. Mehta, Nicholas Katsanis, Tjitske Kleefstra
Am J Hum Genet. 2015 Aug 6; 97(2): 343–352. doi: 10.1016/j.ajhg.2015.07.004
PMCID:
PMC4573244
10.
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
11.
Qian Li, Pan Zhang, Chao Zhang, Ying Wang, Ru Wan, Ye Yang, Xuejiang Guo, Ran Huo, Min Lin, Zuomin Zhou, Jiahao Sha
J Biomed Res. 2014 Jul; 28(4): 282–291. Published online 2014 Mar 3. doi: 10.7555/JBR.27.20130047
PMCID:
PMC4102842
12.
David TW Jones, Natalie Jäger, Marcel Kool, Thomas Zichner, Barbara Hutter, Marc Sultan, Yoon-Jae Cho, Trevor J Pugh, Volker Hovestadt, Adrian M Stütz, Tobias Rausch, Hans-Jörg Warnatz, Marina Ryzhova, Sebastian Bender, Dominik Sturm, Sabrina Pleier, Huriye Cin, Elke Pfaff, Laura Sieber, Andrea Wittmann, Marc Remke, Hendrik Witt, Sonja Hutter, Theophilos Tzaridis, Joachim Weischenfeldt, Benjamin Raeder, Meryem Avci, Vyacheslav Amstislavskiy, Marc Zapatka, Ursula D Weber, Qi Wang, Bärbel Lasitschka, Cynthia C Bartholomae, Manfred Schmidt, Christof von Kalle, Volker Ast, Chris Lawerenz, Jürgen Eils, Rolf Kabbe, Vladimir Benes, Peter van Sluis, Jan Koster, Richard Volckmann, David Shih, Matthew J Betts, Robert B Russell, Simona Coco, Gian Paolo Tonini, Ulrich Schüller, Volkmar Hans, Norbert Graf, Yoo-Jin Kim, Camelia Monoranu, Wolfgang Roggendorf, Andreas Unterberg, Christel Herold-Mende, Till Milde, Andreas E Kulozik, Andreas von Deimling, Olaf Witt, Eberhard Maass, Jochen Rössler, Martin Ebinger, Martin U Schuhmann, Michael C Frühwald, Martin Hasselblatt, Nada Jabado, Stefan Rutkowski, André O von Bueren, Dan Williamson, Steven C Clifford, Martin G McCabe, V. Peter Collins, Stephan Wolf, Stefan Wiemann, Hans Lehrach, Benedikt Brors, Wolfram Scheurlen, Jörg Felsberg, Guido Reifenberger, Paul A Northcott, Michael D Taylor, Matthew Meyerson, Scott L Pomeroy, Marie-Laure Yaspo, Jan O Korbel, Andrey Korshunov, Roland Eils, Stefan M Pfister, Peter Lichter
Nature.
Published in final edited form as: Nature. 2012 Aug 2; 488(7409): 100–105. doi: 10.1038/nature11284
PMCID:
PMC3662966
13.
Trevor J. Pugh, Shyamal Dilhan Weeraratne, Tenley C. Archer, Daniel A. Pomeranz Krummel, Daniel Auclair, James Bochicchio, Mauricio O. Carneiro, Scott L. Carter, Kristian Cibulskis, Rachel L. Erlich, Heidi Greulich, Michael S. Lawrence, Niall J. Lennon, Aaron McKenna, James Meldrim, Alex H. Ramos, Michael G. Ross, Carsten Russ, Erica Shefler, Andrey Sivachenko, Brian Sogoloff, Petar Stojanov, Pablo Tamayo, Jill P. Mesirov, Vladimir Amani, Natalia Teider, Soma Sengupta, Jessica Pierre Francois, Paul A. Northcott, Michael D. Taylor, Furong Yu, Gerald R. Crabtree, Amanda G. Kautzman, Stacey B. Gabriel, Gad Getz, Natalie Jäger, David T. W. Jones, Peter Lichter, Stefan M. Pfister, Thomas M. Roberts, Matthew Meyerson, Scott L. Pomeroy, Yoon-Jae Cho
Nature.
Published in final edited form as: Nature. 2012 Aug 2; 488(7409): 106–110. doi: 10.1038/nature11329
PMCID:
PMC3413789
14.
Giles Robinson, Matthew Parker, Tanya A. Kranenburg, Charles Lu, Xiang Chen, Li Ding, Timothy N. Phoenix, Erin Hedlund, Lei Wei, Xiaoyan Zhu, Nader Chalhoub, Suzanne J. Baker, Robert Huether, Richard Kriwacki, Natasha Curley, Radhika Thiruvenkatam, Jianmin Wang, Gang Wu, Michael Rusch, Xin Hong, Jared Beckford, Pankaj Gupta, Jing Ma, John Easton, Bhavin Vadodaria, Arzu Onar-Thomas, Tong Lin, Shaoyi Li, Stanley Pounds, Steven Paugh, David Zhao, Daisuke Kawauchi, Martine F. Roussel, David Finkelstein, David W. Ellison, Ching C. Lau, Eric Bouffet, Tim Hassall, Sridharan Gururangan, Richard Cohn, Robert S. Fulton, Lucinda L. Fulton, David J. Dooling, Kerri Ochoa, Amar Gajjar, Elaine R. Mardis, Richard K. Wilson, James R. Downing, Jinghui Zhang, Richard J. Gilbertson
Nature.
Published in final edited form as: Nature. 2012 Aug 2; 488(7409): 43–48. doi: 10.1038/nature11213
PMCID:
PMC3412905

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