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Items: 18

1.
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian
Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380
PMCID:
PMC10994533
2.
Alba Saez-Matia, Markel G. Ibarluzea, Sara M-Alicante, Arantza Muguruza-Montero, Eider Nuñez, Rafael Ramis, Oscar R. Ballesteros, Diego Lasa-Goicuria, Carmen Fons, Mónica Gallego, Oscar Casis, Aritz Leonardo, Aitor Bergara, Alvaro Villarroel
Int J Mol Sci. 2024 Mar; 25(5): 2910. Published online 2024 Mar 2. doi: 10.3390/ijms25052910
PMCID:
PMC10932340
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.
N. Dirkx, Wout J. Weuring, E. De Vriendt, N. Smal, J. van de Vondervoort, Ruben van ’t Slot, M. Koetsier, N. Zonnekein, Tim De Pooter, S. Weckhuysen, B. P. C. Koeleman
BMC Biol. 2023; 21: 156. Published online 2023 Jul 13. doi: 10.1186/s12915-023-01646-7
PMCID:
PMC10347817
5.
Maria B. Christensen, Amanda M. Levy, Nazanin A. Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoit, Kailash P. Bhatia, Tatjana Bierhals, Christian M. Boßelmann, Julien Buratti, Bert Callewaert, Berten Ceulemans, Perrine Charles, Matthias De Wachter, Mohammadreza Dehghani, Erika D'haenens, Martine Doco‐Fenzy, Michaela Geßner, Cyrielle Gobert, Ulviyya Guliyeva, Tobias B. Haack, Trine B. Hammer, Tilman Heinrich, Maja Hempel, Theresia Herget, Ute Hoffmann, Judit Horvath, Henry Houlden, Boris Keren, Christina Kresge, Candy Kumps, Damien Lederer, Alban Lermine, Francesca Magrinelli, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Mahdiyeh Moudi, Amelie J. Müller, Anna J. Oostra, Beth A. Pletcher, David Ros‐Pardo, Shanika Samarasekera, Marco Tartaglia, Kristof Van Schil, Julie Vogt, Evangeline Wassmer, Juliane Winkelmann, Maha S. Zaki, Michael Zech, Holger Lerche, Francesca Clementina Radio, Paulino Gomez‐Puertas, Rikke S. Møller, Zeynep Tümer
Clin Genet. 2022 Aug; 102(2): 98–109. Published online 2022 Jun 8. doi: 10.1111/cge.14165
PMCID:
PMC9546172
6.
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
7.
Niklas Schwarz, Simone Seiffert, Manuela Pendziwiat, Annika Verena Rademacher, Tobias Brünger, Ulrike B.S. Hedrich, Paul B. Augustijn, Hartmut Baier, Allan Bayat, Francesca Bisulli, Russell J. Buono, Ben Zeev Bruria, Michael G. Doyle, Renzo Guerrini, Gali Heimer, Michele Iacomino, Hugh Kearney, Karl Martin Klein, Ioanna Kousiappa, Wolfram S. Kunz, Holger Lerche, Laura Licchetta, Ebba Lohmann, Raffaella Minardi, Marie McDonald, Sarah Montgomery, Lejla Mulahasanovic, Renske Oegema, Barel Ortal, Savvas S. Papacostas, Francesca Ragona, Tiziana Granata, Phillip S. Reif, Felix Rosenow, Annick Rothschild, Paolo Scudieri, Pasquale Striano, Paolo Tinuper, George A. Tanteles, Annalisa Vetro, Felix Zahnert, Ethan M. Goldberg, Federico Zara, Dennis Lal, Patrick May, Hiltrud Muhle, Ingo Helbig, Yvonne Weber
Neurology. 2022 May 17; 98(20): e2046–e2059. doi: 10.1212/WNL.0000000000200660
PMCID:
PMC9162046
8.
ALISA MO, LEEANNE G SNYDER, OWEN BABINGTON, WENDY K CHUNG, MUSTAFA SAHIN, SIDDHARTH SRIVASTAVA
Dev Med Child Neurol.
Published in final edited form as: Dev Med Child Neurol. 2022 May; 64(5): 654–661. Published online 2021 Oct 26. doi: 10.1111/dmcn.15100
PMCID:
PMC8986546
9.
Anton Karabinos, Michaela Hyblova, Miroslava Eckertova, Erika Tomkova, Drahomira Schwartzova, Nikoleta Luckanicova, Gabriela Magyarova, Gabriel Minarik
J Med Case Rep. 2022; 16: 98. Published online 2022 Feb 28. doi: 10.1186/s13256-022-03291-0
PMCID:
PMC8886762
10.
Kuokuo Li, Zhenghuan Fang, Guihu Zhao, Bin Li, Chao Chen, Lu Xia, Lin Wang, Tengfei Luo, Xiaomeng Wang, Zheng Wang, Yi Zhang, Yi Jiang, Qian Pan, Zhengmao Hu, Hui Guo, Beisha Tang, Chunyu Liu, Zhongsheng Sun, Kun Xia, Jinchen Li
J Autism Dev Disord. 2022; 52(3): 1299–1313. Published online 2021 May 10. doi: 10.1007/s10803-021-05031-7
PMCID:
PMC8854168
11.
Julia Klau, Rami Abou Jamra, Maximilian Radtke, Henry Oppermann, Johannes R. Lemke, Skadi Beblo, Bernt Popp
Eur J Hum Genet. 2022 Jan; 30(1): 117–125. Published online 2021 Oct 25. doi: 10.1038/s41431-021-00981-z
PMCID:
PMC8738730
12.
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
13.
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
14.
Dennis Lal, Patrick May, Eduardo Perez-Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise B. Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa M. Niestroj, Juliana Du, Carla Marini, EuroEPINOMICS-RES Consortium, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P. C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly
Genome Med. 2020; 12: 28. Published online 2020 Mar 17. doi: 10.1186/s13073-020-00725-6
PMCID:
PMC7079346
15.
Min Zhong, Shuang Liao, Tingsong Li, Peng Wu, Yanqin Wang, Fangrui Wu, Xiujuan Li, Siqi Hong, Lisi Yan, Li Jiang
Medicine (Baltimore) 2019 Nov; 98(44): e17749. Published online 2019 Nov 1. doi: 10.1097/MD.0000000000017749
PMCID:
PMC7017979
16.
Gemma L. Carvill, Krysta L. Engel, Aishwarya Ramamurthy, J. Nicholas Cochran, Jolien Roovers, Hannah Stamberger, Nicholas Lim, Amy L. Schneider, Georgie Hollingsworth, Dylan H. Holder, Brigid M. Regan, James Lawlor, Lieven Lagae, Berten Ceulemans, E. Martina Bebin, John Nguyen, EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group, Gregory S. Barsh, Sarah Weckhuysen, Miriam Meisler, Samuel F. Berkovic, Peter De Jonghe, Ingrid E. Scheffer, Richard M. Myers, Gregory M. Cooper, Heather C. Mefford
Am J Hum Genet. 2018 Dec 6; 103(6): 1022–1029. Published online 2018 Dec 6. doi: 10.1016/j.ajhg.2018.10.023
PMCID:
PMC6288405
17.
Carolien G. F. de Kovel, Steffen Syrbe, Eva H. Brilstra, Nienke Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, Hande Cagaylan, Uluc Yis, Carol Saunders, Martin Rook, Susanna Plugge, Hiltrud Muhle, Zaid Afawi, Karl-Martin Klein, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Ethan Goldberg, Eric Marsh, Sudha Kessler, Christina Bergqvist, Laura K. Conlin, Bryan L. Krok, Isabelle Thiffault, Manuela Pendziwiat, Ingo Helbig, Tilman Polster, Ingo Borggraefe, Johannes R. Lemke, Marie-José van den Boogaardt, Rikke S. Møller, Bobby P. C. Koeleman
JAMA Neurol. 2017 Oct; 74(10): 1228–1236. Prepublished online 2017 Aug 14. Published online 2017 Oct 9. doi: 10.1001/jamaneurol.2017.1714
PMCID:
PMC5710242
18.
Antonella Pirone, Jon Alexander, Lauren A. Lau, David Hampton, Andrew Zayachkivsky, Amy Yee, Audrey Yee, Michele H. Jacob, Chris G. Dulla
Neurobiol Dis.
Published in final edited form as: Neurobiol Dis. 2017 Feb; 98: 149–157. Published online 2016 Nov 13. doi: 10.1016/j.nbd.2016.11.002
PMCID:
PMC5222689

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