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Items: 1 to 20 of 36

1.
Lauren B. Carter, Agatino Battaglia, Athena Cherry, Melanie A. Manning, Maura RZ Ruzhnikov, Lynne M. Bird, Leah Dowsett, John M. Graham, Jr., Fowzan S. Alkuraya, Mais Hashem, Mary Beth Dinulos, Stephanie Vallee, Margaret P. Adam, Ian Glass, Anita E. Beck, Cathy A. Stevens, Elaine Zackai, Carey McDougall, Beth Keena, Angela Peron, Aglaia Vignoli, Laurie H. Seaver, Thomas P. Slavin, Louanne Hudgins
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2019 Aug; 179(8): 1543–1546. Published online 2019 Jun 17. doi: 10.1002/ajmg.a.61266
PMCID:
PMC7254578
2.
Rebecca Finnegan, Mary O'Regan, Máire White, Gianpiero L. Cavalleri, Norman Delanty, Katherine A. Benson, Marie T. Greally
Mol Genet Genomic Med. 2024 Sep; 12(9): e70010. Published online 2024 Sep 23. doi: 10.1002/mgg3.70010
PMCID:
PMC11418404
3.
Luciana Musante, Paola Costa, Caterina Zanus, Flavio Faletra, Flora M. Murru, Anna M. Bianco, Martina La Bianca, Giulia Ragusa, Emmanouil Athanasakis, Adamo P. d’Adamo, Marco Carrozzi, Paolo Gasparini
Genes (Basel) 2022 Mar; 13(3): 500. Published online 2022 Mar 12. doi: 10.3390/genes13030500
PMCID:
PMC8953579
4.
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
5.
Anne T. Berg, Sonal Mahida, Annapurna Poduri
Ann Clin Transl Neurol. 2021 Mar; 8(3): 666–676. Published online 2021 Feb 22. doi: 10.1002/acn3.51316
PMCID:
PMC7951099
6.
Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H. Murray, Craig A. Bingman, Selina Reich, Jan Kern, Anna Heinzmann, Gessica Vasco, Enrico Bertini, Ginevra Zanni, Alexandra Durr, Stefania Magri, Franco Taroni, Alessandro Malandrini, Jonathan Baets, Peter de Jonghe, Willem de Ridder, Matthieu Bereau, Stephanie Demuth, Christos Ganos, A. Nazli Basak, Hasmet Hanagasi, Semra Hiz Kurul, Benjamin Bender, Ludger Schöls, Ute Grasshoff, Thomas Klopstock, Rita Horvath, Bart van de Warrenburg, Lydie Burglen, Christelle Rougeot, Claire Ewenczyk, Michel Koenig, Filippo M. Santorelli, Mathieu Anheim, Renato P. Munhoz, Tobias Haack, Felix Distelmaier, David J. Pagliarini, Hélène Puccio, Matthis Synofzik
Ann Neurol. 2020 Aug; 88(2): 251–263. Published online 2020 Jun 10. doi: 10.1002/ana.25751
PMCID:
PMC7877690
7.
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
8.
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Luan T Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M L van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L Bonkowsky, Coriene Catsman-Berrevoets, Pedro S Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak-Bialek, Ingeborg Krägeloh-Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atik, Brenda Banwell, William S Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klara Brozova, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice Fletcher, Maria Eugenia Garcia Garcia, Paolo Gasparini, Janina Gburek-Augustat, Dolores Gonzalez Moron, Aline Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M Hobson, A Micheil Innes, Marcelo Kauffman, Susan M Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, William McClintock, Meriel McEntagart, Fiona McKenzie, Serge Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando I Monton, Sebastien Moutton, Raymond P J Murphy, Miriam Nickel, Hüseyin Onay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Helio Pedro, Sandra Pekic, Mercedes Pineda Marfa, Amy Pizzino, Barbara Plecko, Bwee Tien Poll-The, Vera Popovic, Dietz Rating, Marie-France Rioux, Norberto Rodriguez Espinosa, Anne Ronan, John R Ostergaard, Elsa Rossignol, Rocio Sanchez-Carpintero, Anna Schossig, Nesrin Senbil, Laura K Sønderberg Roos, Cathy A Stevens, Matthis Synofzik, László Sztriha, Daniel Tibussek, Dagmar Timmann, Davide Tonduti, Bart P van de Warrenburg, Maria Vázquez-López, Sunita Venkateswaran, Pontus Wasling, Evangeline Wassmer, Richard I Webster, Gert Wiegand, Grace Yoon, Joost Rotteveel, Raphael Schiffmann, Marjo S van der Knaap, Adeline Vanderver, Gabriel Á Martos-Moreno, Constantin Polychronakos, Nicole I Wolf, Geneviève Bernard
J Clin Endocrinol Metab. 2021 Feb; 106(2): e660–e674. Published online 2020 Oct 1. doi: 10.1210/clinem/dgaa700
PMCID:
PMC7823228
9.
Baris Alten, Qiangjun Zhou, Ok-Ho Shin, Luis Esquivies, Pei-Yi Lin, K. Ian White, Rong Sun, Wendy K. Chung, Lisa M. Monteggia, Axel T. Brunger, Ege T. Kavalali
Neuron.
Published in final edited form as: Neuron. 2021 Jan 6; 109(1): 59–72.e5. Published online 2020 Nov 3. doi: 10.1016/j.neuron.2020.10.012
PMCID:
PMC7790958
10.
Gökhan Yigit, Ruth Sheffer, Muhannad Daana, Yun Li, Emrah Kaygusuz, Hagar Mor-Shakad, Janine Altmüller, Peter Nürnberg, Liza Douiev, Silke Kaulfuss, Peter Burfeind, Bernd Wollnik, Knut Brockmann
J Med Genet. 2022 Jun; 59(6): 549–553. Published online 2021 Jun 25. doi: 10.1136/jmedgenet-2021-107769
PMCID:
PMC9132866
11.
Jinliang Li, Kai Gao, Shuying Cai, Yin Liu, Yuzhen Wang, Shaoping Huang, Jian Zha, Wenjing Hu, Shujie Yu, Zhixian Yang, Han Xie, Huifang Yan, Jingmin Wang, Ye Wu, Yuwu Jiang
Sci Rep. 2019; 9: 17909. Published online 2019 Nov 29. doi: 10.1038/s41598-019-53484-9
PMCID:
PMC6884442
12.
Ting Hu, Zhu Zhang, Jiamin Wang, Qinqin Li, Hongmei Zhu, Yi Lai, He Wang, Shanling Liu
Biomed Res Int. 2019; 2019: 9352581. Published online 2019 Nov 6. doi: 10.1155/2019/9352581
PMCID:
PMC6875000
13.
Lacey Smith, Nilika Singhal, Christelle M. El Achkar, Gessica Truglio, Rosen-Sheidley Beth, Joseph Sullivan, Annapurna Poduri
Epilepsia.
Published in final edited form as: Epilepsia. 2018 Mar; 59(3): 679–689. Published online 2018 Jan 28. doi: 10.1111/epi.14003
PMCID:
PMC6264912
14.
Kye Hee Cho, Sung Han Shim, Youngsoo Jung, Se Ra Sung, MinYoung Kim
BMC Med Genet. 2018; 19: 152. Published online 2018 Aug 29. doi: 10.1186/s12881-018-0663-0
PMCID:
PMC6114270
15.
Yuxia Tan, Mei Hou, Shaochun Ma, Peipei Liu, Shungang Xia, Yu Wang, Liping Chen, Zongbo Chen
BMC Med Genet. 2018; 19: 92. Published online 2018 Jun 4. doi: 10.1186/s12881-018-0621-x
PMCID:
PMC5987650
16.
Suejen Perani, Tim M. Tierney, Maria Centeno, Elhum A. Shamshiri, Siti N. Yaakub, Jonathan O'Muircheartaigh, David W. Carmichael, Mark P. Richardson
Epilepsia. 2018 Jan; 59(1): 226–234. Published online 2017 Nov 18. doi: 10.1111/epi.13955
PMCID:
PMC5813228
17.
Gemma L. Carvill, Aijie Liu, Simone Mandelstam, Amy Schneider, Amy Lacroix, Matthew Zemel, Jacinta M. McMahon, Luis Bello-Espinosa, Mark Mackay, Geoffrey Wallace, Michaela Waak, Jing Zhang, Xiaoling Yang, Stephen Malone, Yue-Hua Zhang, Heather C. Mefford, Ingrid E. Scheffer
Epilepsia.
Published in final edited form as: Epilepsia. 2018 Jan; 59(1): e5–e13. Published online 2017 Nov 24. doi: 10.1111/epi.13957
PMCID:
PMC5760358
18.
Marcus Winkler, Rebekka Lutz, Ulrich Russ, Ulrich Quast, Joseph Bryan
J Biol Chem. 2009 Mar 13; 284(11): 6752–6762. doi: 10.1074/jbc.M805435200
PMCID:
PMC2652280
19.
Heather E. Olson, Scott Demarest, Elia Pestana-Knight, Ahsan N. Moosa, Xiaoming Zhang, José R. Pérez-Pérez, Judy Weisenberg, Erin O’Connor Prange, Eric D. Marsh, Rajsekar R. Rajaraman, Bernhard Suter, Akshat Katyayan, Isabel Haviland, Carolyn Daniels, Bo Zhang, Caitlin Greene, Michelle DeLeo, Lindsay Swanson, Jamie Love-Nichols, Timothy Benke, Chellamani Harini, Annapurna Poduri
Epilepsia.
Published in final edited form as: Epilepsia. 2023 Jul; 64(7): 1821–1832. Published online 2023 May 15. doi: 10.1111/epi.17630
PMCID:
PMC10524264
20.
Yen Thi My Nguyen, Bao-Quoc Vu, Duy-Khai Nguyen, Ngoc-Vinh Quach, Liem Thanh Bui, Jeonghan Hong, Chi-Bao Bui
Sci Rep. 2024; 14: 21606. Published online 2024 Sep 16. doi: 10.1038/s41598-024-72683-7
PMCID:
PMC11405402

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