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Items: 1 to 20 of 42

1.
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino
Brain. 2023 Dec; 146(12): 5031–5043. Published online 2023 Jul 30. doi: 10.1093/brain/awad257
PMCID:
PMC10690011
2.
Hailan He, Huiwen Zhang, Hui Chen, Fang He, Fei Yin, Tobias Stauber, Xiaomin Zou, Jing Peng
CNS Neurosci Ther. 2023 Dec; 29(12): 4059–4069. Published online 2023 Jun 28. doi: 10.1111/cns.14329
PMCID:
PMC10651982
3.
Robert Lersch, Rawan Jannadi, Leonie Grosse, Matias Wagner, Marius Frederik Schneider, Celina von Stülpnagel, Florian Heinen, Heidrun Potschka, Ingo Borggraefe
Neuroscientist. 2023 Dec; 29(6): 732–750. Published online 2022 Apr 13. doi: 10.1177/10738584221088244
PMCID:
PMC10623613
4.
Lin Wan, Dan Yu, Zhichao Li, Xinting Liu, Yan Liang, Huimin Yan, Gang Zhu, Bo Zhang, Guang Yang
Epilepsia Open. 2023 Sep; 8(3): 867–876. Published online 2023 May 5. doi: 10.1002/epi4.12751
PMCID:
PMC10472388
5.
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
6.
Yijing Su, Yi Zhou, Mariko L. Bennett, Shiying Li, Marc Carceles-Cordon, Lu Lu, Sooyoung Huh, Dennisse Jimenez-Cyrus, Benjamin C. Kennedy, Sudha K. Kessler, Angela N. Viaene, Ingo Helbig, Xiaosong Gu, Joel E. Kleinman, Thomas M. Hyde, Daniel R. Weinberger, David W. Nauen, Hongjun Song, Guo-li Ming
Cell Stem Cell.
Published in final edited form as: Cell Stem Cell. 2022 Nov 3; 29(11): 1594–1610.e8. doi: 10.1016/j.stem.2022.09.010
PMCID:
PMC9844262
7.
Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder-Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh R. Mordekar, Miranda Splitt, Peter D. Turnpenny, Demetria Demetriou, Tamara T. Koopmann, Claudia A.L. Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Elizabeth Holder, Jessica Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian
Neurology. 2022 Oct 4; 99(14): e1511–e1526. doi: 10.1212/WNL.0000000000200927
PMCID:
PMC9576304
8.
Fernanda Leal‐Pardinas, Rebecca Truty, Dianalee A. McKnight, Britt Johnson, Ana Morales, Sara L. Bristow, Tiffany Yar Pang, Jessica Cohen‐Pfeffer, Emanuela Izzo, Raman Sankar, Sookyong Koh, Elaine C. Wirrell, John J. Millichap, Swaroop Aradhya
Epilepsia. 2022 Jul; 63(7): e68–e73. Published online 2022 May 10. doi: 10.1111/epi.17269
PMCID:
PMC9545603
9.
Kishan Vyas, Hannah Luedke, Benjamin Ruban‐Fell
Brain Behav. 2022 Jul; 12(7): e2622. Published online 2022 Jun 28. doi: 10.1002/brb3.2622
PMCID:
PMC9304844
10.
Elena Cardenal‐Muñoz, Stéphane Auvin, Vicente Villanueva, J. Helen Cross, Sameer M. Zuberi, Lieven Lagae, José Ángel Aibar
Epilepsia Open. 2022 Mar; 7(1): 11–26. Published online 2021 Dec 19. doi: 10.1002/epi4.12569
PMCID:
PMC8886070
11.
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
12.
Eleanor Hay, Louise C. Wilson, Bethan Hoskins, Martin Samuels, Pinki Munot, Shamima Rahman
Eur J Hum Genet. 2021 Oct; 29(10): 1536–1541. Published online 2021 Jul 20. doi: 10.1038/s41431-021-00932-8
PMCID:
PMC8484625
13.
Veronica C. Beck, Lori L. Isom, Anne T. Berg
J Pediatr.
Published in final edited form as: J Pediatr. 2021 Oct; 237: 41–49.e1. Published online 2021 Jun 26. doi: 10.1016/j.jpeds.2021.06.034
PMCID:
PMC8478841
14.
Grace Silver, Shalini Bahl, Dawn Cordeiro, Abhinav Thakral, Taryn Athey, Saadet Mercimek-Andrews
Genes (Basel) 2021 Aug; 12(8): 1227. Published online 2021 Aug 10. doi: 10.3390/genes12081227
PMCID:
PMC8391492
15.
Maha S. Zaki, Andrea Accogli, Ghayda Mirzaa, Fatima Rahman, Hiba Mohammed, Gloria Liliana Porras-Hurtado, Stephanie Efthymiou, Shazia Maqbool, Anju Shukla, John B. Vincent, Abrar Hussain, Asif Mir, Christian Beetz, Anika Leubauer, Henry Houlden, Joseph G. Gleeson, Reza Maroofian
Eur J Hum Genet. 2021 Aug; 29(8): 1226–1234. Published online 2021 Jun 24. doi: 10.1038/s41431-021-00910-0
PMCID:
PMC8385073
16.
Margot A. Cousin, Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald J. Edwards, Simone Afriyie, Julia C. Bay, Kathryn M. Harper, Alvaro A. Beltran, Lorena J. Munoz, Liset Falcon Rodriguez, Michael C. Stankewich, Richard E. Person, Yue Si, Elizabeth A. Normand, Amy Blevins, Alison S. May, Louise Bier, Vimla Aggarwal, Grazia M. S. Mancini, Marjon A. van Slegtenhorst, Kirsten Cremer, Jessica Becker, Hartmut Engels, Stefan Aretz, Jennifer J. MacKenzie, Eva Brilstra, Koen L. I. van Gassen, Richard H. van Jaarsveld, Renske Oegema, Gretchen M. Parsons, Paul Mark, Ingo Helbig, Sarah E. McKeown, Robert Stratton, Benjamin Cogne, Bertrand Isidor, Pilar Cacheiro, Damian Smedley, Helen V. Firth, Tatjana Bierhals, Katja Kloth, Deike Weiss, Cecilia Fairley, Joseph T. Shieh, Amy Kritzer, Parul Jayakar, Evangeline Kurtz-Nelson, Raphael A. Bernier, Tianyun Wang, Evan E. Eichler, Ingrid M. B. H. van de Laar, Allyn McConkie-Rosell, Marie T. McDonald, Jennifer Kemppainen, Brendan C. Lanpher, Laura E. Schultz-Rogers, Lauren B. Gunderson, Pavel N. Pichurin, Grace Yoon, Michael Zech, Robert Jech, Juliane Winkelmann, Undiagnosed Diseases Network, Genomics England Research Consortium, Adriana S. Beltran, Michael T. Zimmermann, Brenda Temple, Sheryl S. Moy, Eric W. Klee, Queenie K.-G. Tan, Damaris N. Lorenzo
Nat Genet.
Published in final edited form as: Nat Genet. 2021 Jul; 53(7): 1006–1021. Published online 2021 Jul 1. doi: 10.1038/s41588-021-00886-z
PMCID:
PMC8273149
17.
Am J Hum Genet. 2021 Jun 3; 108(6): 965–982. Published online 2021 Apr 30. doi: 10.1016/j.ajhg.2021.04.009
PMCID:
PMC8206159
18.
Marina Trivisano, Alessandro Ferretti, Elizabeth Bebin, Linda Huh, Gaetan Lesca, Aleksandra Siekierska, Ryo Takeguchi, Maryline Carneiro, Luca De Palma, Ilaria Guella, Kazuhiro Haginoya, Ruo Ming Shi, Atsuo Kikuchi, Tomoko Kobayashi, Julien Jung, Lieven Lagae, Mathieu Milh, Marie L Mathieu, Berge A Minassian, Antonio Novelli, Nicola Pietrafusa, Eri Takeshita, Marco Tartaglia, Alessandra Terracciano, Michelle L Thompson, Gregory M Cooper, Federico Vigevano, Laurent Villard, Nathalie Villeneuve, Gunnar M Buyse, Michelle Demos, Ingrid E Scheffer, Nicola Specchio
Epilepsia.
Published in final edited form as: Epilepsia. 2020 Jul; 61(7): e71–e78. Published online 2020 Jul 9. doi: 10.1111/epi.16582
PMCID:
PMC8168379
19.
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
20.
Barbora Benova, Thomas S. Jacques
Brain Pathol. 2019 Jul; 29(4): 473–484. Published online 2019 Jan 27. doi: 10.1111/bpa.12686
PMCID:
PMC8028510

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