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Items: 1 to 20 of 35

1.
Laura S Farach, Melissa A Richard, Philip J. Lupo, Mustafa Sahin, Darcy A. Krueger, Joyce Y. Wu, Elizabeth M. Bebin, Kit Sing Au, Hope Northrup
Pediatr Neurol.
Published in final edited form as: Pediatr Neurol. 2020 Dec; 113: 46–50. Published online 2020 Jul 29. doi: 10.1016/j.pediatrneurol.2020.07.015
PMCID:
PMC10461434
2.
Pu Miao, Xueying Zhu, Wenqin Jin, Lingyan Yu, Yanfang Li, Ye Wang, Qunyan Su, Sha Xu, Shuang Wang, Jianhua Feng
Ann Clin Transl Neurol. 2023 Aug; 10(8): 1374–1382. Published online 2023 Jun 16. doi: 10.1002/acn3.51828
PMCID:
PMC10424658
3.
Hyun Yong Koh, Lacey Smith, Kimberly N. Wiltrout, Archana Podury, Nitish Chourasia, Alissa M. D’Gama, Meredith Park, Devon Knight, Emma L. Sexton, Julia J. Koh, Brandon Oby, Rebecca Pinsky, Diane D. Shao, Courtney E. French, Wanqing Shao, Shira Rockowitz, Piotr Sliz, Bo Zhang, Sonal Mahida, Christelle Moufawad El Achkar, Christopher J. Yuskaitis, Heather E. Olson, Beth Rosen Sheidley, Annapurna H. Poduri
JAMA Netw Open. 2023 Jul; 6(7): e2324380. Published online 2023 Jul 20. doi: 10.1001/jamanetworkopen.2023.24380
PMCID:
PMC10359957
4.
Michal Gafner, Marina Michelson, Emanuela Argilli, Keren Yosovich, Elliott H. Sherr, Kendall C. Parks, Eleina M. England, Ronen Hady-Cohen, Zvi Leibovitz, Dorit Lev, Yael Michaeli-Yosef, Tally Lerman-Sagie, Lubov Blumkin
J Hum Genet.
Published in final edited form as: J Hum Genet. 2022 Feb; 67(2): 95–101. Published online 2021 Aug 16. doi: 10.1038/s10038-021-00971-5
PMCID:
PMC10256137
5.
Siddharth Srivastava, Sara A. Lewis, Julie S. Cohen, Bo Zhang, Bhooma R. Aravamuthan, Maya Chopra, Mustafa Sahin, Michael C. Kruer, Annapurna Poduri
JAMA Neurol. 2022 Dec; 79(12): 1287–1295. Published online 2022 Oct 24. doi: 10.1001/jamaneurol.2022.3549
PMCID:
PMC9593320
6.
Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan G Karimiani, Anna Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrosio Fock, Christian Beetz, Claudia A L Ruivenkamp, Alison J Eaton, Francois D Morneau-Jacob, Lena Sagi-Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad-Halloun, Daan J Kamphuis, Cacha M P C D Peeters-Scholte, Semra Hiz Kurul, Rita Horvath, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M Muir, Aboulfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna S Povolotskaya, Victoria Y Voinova, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Fowzan S Alkuraya, Heather C Mefford, Majid Alfadhel, Tobias B Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst-Hofstee, Henry Houlden
Brain. 2022 Jul; 145(7): 2301–2312. Published online 2022 Apr 4. doi: 10.1093/brain/awac116
PMCID:
PMC9337806
7.
Julie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, Ganna Balagura, Eryn Fitch, Katherine Helbig, Jing Gan, Shiva Ganesan, Michael C Kaufman, Colin A Ellis, David Lewis-Smith, Peter Galer, Kristin Cunningham, Margaret O’Brien, Mahgenn Cosico, Kate Baker, Alejandra Darling, Fernanda Veiga de Goes, Christelle M El Achkar, Jan Henje Doering, Francesca Furia, Ángeles García-Cazorla, Elena Gardella, Lisa Geertjens, Courtney Klein, Anna Kolesnik-Taylor, Hanna Lammertse, Jeehun Lee, Alexandra Mackie, Mala Misra-Isrie, Heather Olson, Emma Sexton, Beth Sheidley, Lacey Smith, Luiza Sotero, Hannah Stamberger, Steffen Syrbe, Kim Marie Thalwitzer, Annemiek van Berkel, Mieke van Haelst, Christopher Yuskaitis, Sarah Weckhuysen, Ben Prosser, Charlene Son Rigby, Scott Demarest, Samuel Pierce, Yuehua Zhang, Rikke S Møller, Hilgo Bruining, Annapurna Poduri, Federico Zara, Matthijs Verhage, Pasquale Striano, Ingo Helbig
Brain. 2022 May; 145(5): 1668–1683. Published online 2021 Nov 23. doi: 10.1093/brain/awab327
PMCID:
PMC9166568
8.
Wanhao Chi, Atulya S. R. Iyengar, Wenqin Fu, Wei Liu, Abigayle E. Berg, Chun-Fang Wu, Xiaoxi Zhuang
Proc Natl Acad Sci U S A. 2022 Mar 1; 119(9): e2115524119. Published online 2022 Feb 25. doi: 10.1073/pnas.2115524119
PMCID:
PMC8892510
9.
Dongfang Zou, Lin Wang, Jianxiang Liao, Hongdou Xiao, Jing Duan, Tongda Zhang, Jianbiao Li, Zhenzhen Yin, Jing Zhou, Haisheng Yan, Yushan Huang, Nianji Zhan, Ying Yang, Jingyu Ye, Fang Chen, Shida Zhu, Feiqiu Wen, Jian Guo
Brain. 2021 Dec; 144(12): 3623–3634. Published online 2021 Jun 19. doi: 10.1093/brain/awab233
PMCID:
PMC8719847
10.
Daniel G. Calame, Somayeh Bakhtiari, Rachel Logan, Zeynep Coban-Akdemir, Haowei Du, Tadahiro Mitani, Jawid M. Fatih, Jill V. Hunter, Isabella Herman, Davut Pehlivan, Shalini N. Jhangiani, Richard Person, Rhonda E. Schnur, Sheng Chih Jin, Kaya Bilguvar, Jennifer E. Posey, Sookyong Koh, Saghar G. Firouzabadi, Elham Alehabib, Abbas Tafakhori, Sahra Esmkhani, Richard A. Gibbs, Mahmoud M. Noureldeen, Maha S. Zaki, Dana Marafi, Hossein Darvish, Michael C. Kruer, James R. Lupski
Genet Med.
Published in final edited form as: Genet Med. 2021 Dec; 23(12): 2455–2460. Published online 2021 Aug 12. doi: 10.1038/s41436-021-01291-x
PMCID:
PMC8633036
11.
Katherine R Schon, Rita Horvath, Wei Wei, Claudia Calabrese, Arianna Tucci, Kristina Ibañez, Thiloka Ratnaike, Robert D S Pitceathly, Enrico Bugiardini, Rosaline Quinlivan, Michael G Hanna, Emma Clement, Emma Ashton, John A Sayer, Paul Brennan, Dragana Josifova, Louise Izatt, Carl Fratter, Victoria Nesbitt, Timothy Barrett, Dominic J McMullen, Audrey Smith, Charulata Deshpande, Sarah F Smithson, Richard Festenstein, Natalie Canham, Mark Caulfield, Henry Houlden, Shamima Rahman(, Patrick F Chinnery, Genomics England Research Consortium, John C Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R Boustred, Helen Brittain, Mark J Caulfield, Georgia C Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J P Hubbard, Rob Jackson, Louise J Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E A Leigh, Ivonne U S Leong, Javier F Lopez, Fiona Maleady-Crowe, Meriel McEntegart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C Need, Peter O’Donovan, Chris A Odhams, Christine Patch, Mariana Buonerimo Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H Scott, Afshan Siddiq, Alexander Sieghart, Samuel C Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R A Thomas, Simon R Thompson, Arianna Tucci, Matthew J Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M Wood
BMJ. 2021; 375: e066288. Published online 2021 Nov 4. doi: 10.1136/bmj-2021-066288
PMCID:
PMC8565085
12.
Joseph D Symonds, Katherine S Elliott, Jay Shetty, Martin Armstrong, Andreas Brunklaus, Ioana Cutcutache, Louise A Diver, Liam Dorris, Sarah Gardiner, Alice Jollands, Shelagh Joss, Martin Kirkpatrick, Ailsa McLellan, Stewart MacLeod, Mary O’Regan, Matthew Page, Elizabeth Pilley, Daniela T Pilz, Elma Stephen, Kirsty Stewart, Houman Ashrafian, Julian C Knight, Sameer M Zuberi
Brain. 2021 Sep; 144(9): 2879–2891. Published online 2021 Oct 21. doi: 10.1093/brain/awab162
PMCID:
PMC8557326
13.
Chien-Heng Lin, I-Ching Chou, Syuan-Yu Hong
Medicine (Baltimore) 2021 Mar 26; 100(12): e25277. Published online 2021 Mar 26. doi: 10.1097/MD.0000000000025277
PMCID:
PMC8049163
14.
Andrés Moreno-De-Luca, Francisca Millan, Denis R. Pesacreta, Houda Z. Elloumi, Matthew T. Oetjens, Claire Teigen, Karen E. Wain, Julie Scuffins, Scott M. Myers, Rebecca I. Torene, Vladimir G. Gainullin, Kevin Arvai, H. Lester Kirchner, David H. Ledbetter, Kyle Retterer, Christa L. Martin
JAMA. 2021 Feb 2; 325(5): 467–475. Published online 2021 Feb 2. doi: 10.1001/jama.2020.26148
PMCID:
PMC7856544
15.
Simona Balestrini, Mohamad A. Mikati, Reyes Álvarez-García-Rovés, Michael Carboni, Arsen S. Hunanyan, Bassil Kherallah, Melissa McLean, Lyndsey Prange, Elisa De Grandis, Alessandra Gagliardi, Livia Pisciotta, Michela Stagnaro, Edvige Veneselli, Jaume Campistol, Carmen Fons, Leticia Pias-Peleteiro, Allison Brashear, Charlotte Miller, Raquel Samões, Vesna Brankovic, Quasar S. Padiath, Ana Potic, Jacek Pilch, Aikaterini Vezyroglou, Ann M.E. Bye, Andrew M. Davis, Monique M. Ryan, Christopher Semsarian, Georgina Hollingsworth, Ingrid E. Scheffer, Tiziana Granata, Nardo Nardocci, Francesca Ragona, Alexis Arzimanoglou, Eleni Panagiotakaki, Inês Carrilho, Claudio Zucca, Jan Novy, Karolina Dzieżyc, Marek Parowicz, Maria Mazurkiewicz-Bełdzińska, Sarah Weckhuysen, Roser Pons, Sergiu Groppa, Daniel S. Sinden, Geoffrey S. Pitt, Andrew Tinker, Michael Ashworth, Zuzanna Michalak, Maria Thom, J. Helen Cross, Rosaria Vavassori, Juan P. Kaski, Sanjay M. Sisodiya
Neurology. 2020 Nov 24; 95(21): e2866–e2879. doi: 10.1212/WNL.0000000000010794
PMCID:
PMC7734736
16.
Judith L.Z. Weisenberg, Robert T. Fitzgerald, John N. Constantino, Melodie R. Winawer, Liu Lin Thio, for the EPGP Investigators
Neurology. 2020 Oct 13; 95(15): e2140–e2149. doi: 10.1212/WNL.0000000000010708
PMCID:
PMC7713751
17.
Melissa L. DiBacco, Ana Pop, Gajja S. Salomons, Ellen Hanson, Jean-Baptiste Roullet, K. Michael Gibson, Phillip L. Pearl
Neurology. 2020 Nov 10; 95(19): e2675–e2682. doi: 10.1212/WNL.0000000000010730
PMCID:
PMC7713737
18.
Chloe Verducci, Daniel Friedman, Elizabeth Donner, Orrin Devinsky
Neurology. 2020 Apr 21; 94(16): e1757–e1763. doi: 10.1212/WNL.0000000000009295
PMCID:
PMC7282874
19.
Ida E Sønderby, Ómar Gústafsson, Nhat Trung Doan, Derrek P Hibar, Sandra Martin-Brevet, Abdel Abdellaoui, David Ames, Katrin Amunts, Michael Andersson, Nicola J Armstrong, Manon Bernard, Nicholas Blackburn, John Blangero, Dorret I Boomsma, Janita Bralten, Hans-Richard Brattbak, Henry Brodaty, Rachel M Brouwer, Robin Bülow, Vince Calhoun, Svenja Caspers, Gianpiero Cavalleri, Chi-Hua Chen, Sven Cichon, Simone Ciufolini, Aiden Corvin, Benedicto Crespo-Facorro, Joanne E Curran, Anders M Dale, Shareefa Dalvie, Paola Dazzan, Eco J C de Geus, Greig I. de Zubicaray, Sonja M. C. de Zwarte, Norman Delanty, Anouk den Braber, Sylvane Desrivières, Gary Donohoe, Bogdan Draganski, Stefan Ehrlich, Thomas Espeseth, Simon E Fisher, Barbara Franke, Vincent Frouin, Masaki Fukunaga, Thomas Gareau, David C Glahn, Hans Grabe, Nynke A. Groenewold, Jan Haavik, Asta Håberg, Ryota Hashimoto, Jayne Y Hehir-Kwa, Andreas Heinz, Manon H. J. Hillegers, Per Hoffmann, Laurena Holleran, Jouke-Jan Hottenga, Hilleke E Hulshoff, Masashi Ikeda, Neda Jahanshad, Terry Jernigan, Christiane Jockwitz, Stefan Johansson, Gudrun A Jonsdottir, Erik G Jönsson, Rene Kahn, Tobias Kaufmann, Sinead Kelly, Masataka Kikuchi, Emma E M Knowles, Knut K Kolskår, John B Kwok, Stephanie Le Hellard, Costin Leu, Jingyu Liu, Astri J Lundervold, Arvid Lundervold, Nicholas G. Martin, Karen Mather, Samuel R. Mathias, Mark McCormack, Katie L. McMahon, Allan McRae, Yuri Milaneschi, Clara Moreau, Derek Morris, David Mothersill, Thomas W Mühleisen, Robin Murray, Jan E Nordvik, Lars Nyberg, Loes M Olde Loohuis, Roel Ophoff, Tomas Paus, Zdenka Pausova, Brenda Penninx, Juan M Peralta, Bruce Pike, Carlos Prieto, Sara Pudas, Erin Quinlan, Daniel S Quintana, Céline S Reinbold, Tiago Reis Marques, Alexandre Reymond, Genevieve Richard, Borja Rodriguez-Herreros, Roberto Roiz-Santiañez, Jarek Rokicki, James Rucker, Perminder Sachdev, Anne-Marthe Sanders, Sigrid B Sando, Lianne Schmaal, Peter R Schofield, Andrew J. Schork, Gunter Schumann, Jean Shin, Elena Shumskaya, Sanjay Sisodiya, Vidar M Steen, Dan J Stein, Stacy Steinberg, Lachlan Strike, Alexander Teumer, Anbu Thalamuthu, Diana Tordesillas-Gutierrez, Jessica Turner, Torill Ueland, Anne Uhlmann, Magnus O. Ulfarsson, Dennis van ’t Ent, Dennis van der Meer, Neeltje E. M. van Haren, Anja Vaskinn, Evangelos Vassos, G. Bragi Walters, Yunpeng Wang, Wei Wen, Christopher D Whelan, Katharina Wittfeld, Margie Wright, Hidenaga Yamamori, Tetyana Zayats, Ingrid Agartz, Lars T Westlye, Sébastien Jacquemont, Srdjan Djurovic, Hreinn Stefánsson, Kári Stefánsson, Paul Thompson, Ole A. Andreassen, for the 16p11.2 European Consortium, for the ENIGMA-CNV working group
Mol Psychiatry. 2020; 25(3): 584–602. Published online 2018 Oct 3. doi: 10.1038/s41380-018-0118-1
PMCID:
PMC7042770
20.
Mari Wold Henriksen, Kirstine Ravn, Benedicte Paus, Stephen von Tetzchner, Ola H Skjeldal
BMC Med Genet. 2018; 19: 184. Published online 2018 Oct 11. doi: 10.1186/s12881-018-0700-z
PMCID:
PMC6180591

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