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Items: 1 to 20 of 79

1.
Gillian Rea, Sandya Tirupathi, Jonathan Williams, Penny Clouston, Patrick J. Morrison
Cerebellum. 2020; 19(1): 161–163. Published online 2019 Nov 12. doi: 10.1007/s12311-019-01085-7
PMCID:
PMC6978426
2.
Florence C.F. Chang, Ana Westenberger, Russell C. Dale, Martin Smith, Hardev S. Pall, Belen Perez‐Dueñas, Padraic Grattan‐Smith, Robert A. Ouvrier, Neil Mahant, Bernadette C. Hanna, Matthew Hunter, John A. Lawson, Christoph Max, Rani Sachdev, Esther Meyer, Dennis Crimmins, Donald Pryor, John G.L. Morris, Alex Münchau, Detelina Grozeva, Keren J. Carss, Lucy Raymond, Manju A. Kurian, Christine Klein, Victor S.C. Fung
Mov Disord. 2016 Jul; 31(7): 1033–1040. Published online 2016 Apr 8. doi: 10.1002/mds.26598
PMCID:
PMC4950003
3.
Zhi-yuan Liu, Qiong-qiong Wang, Xian-yong Pang, Xiao-bi Huang, Gui-ming Yang, Sheng Zhao
Ital J Pediatr. 2024; 50: 63. Published online 2024 Apr 8. doi: 10.1186/s13052-024-01610-3
PMCID:
PMC11003105
4.
Rafael Fabiano Machado Rosa, Flávia Enk, Korine Camargo, Giovanni Marco Travi, André Freitas, Rosana Cardoso Manique Rosa, Carla Graziadio, Vinicius Freitas de Mattos, Paulo Ricardo Gazzola Zen
Sao Paulo Med J. 2015; 133(4): 377–380. Published online 2014 Oct 17. doi: 10.1590/1516-3180.2013.7930003
PMCID:
PMC10876356
5.
Cara H. Kanner, David Uher, Kyle Zreibe, Gabriella Beard, Madison Patterson, Matthew Harris, Jerome Doerger, Sean Calamia, Wendy K. Chung, Jacqueline Montes
Orphanet J Rare Dis. 2024; 19: 45. Published online 2024 Feb 7. doi: 10.1186/s13023-024-03067-3
PMCID:
PMC10848481
6.
Jagadish Chandrabose Sundaramurthi, Anita M. Bagley, Hannah Blau, Leigh Carmody, Amy Crandall, Daniel Danis, Michael A. Gargano, Anxhela Gjyshi Gustafson, Ellen M. Raney, Mallory Shingle, Jon R. Davids, Peter N. Robinson
Cold Spring Harb Mol Case Stud. 2023 Dec; 9(4): a006293. doi: 10.1101/mcs.a006293
PMCID:
PMC10815282
7.
Sara A. Lewis, Somayeh Bakhtiari, Jacob Forstrom, Allan Bayat, Frédéric Bilan, Gwenaël Le Guyader, Ebba Alkhunaizi, Hilary Vernon, Sergio R. Padilla-Lopez, Michael C. Kruer
Dis Model Mech. 2023 Sep 1; 16(9): dmm049838. Published online 2023 Sep 26. doi: 10.1242/dmm.049838
PMCID:
PMC10548112
8.
Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J. Hagerman
Cells. 2023 Sep; 12(18): 2330. Published online 2023 Sep 21. doi: 10.3390/cells12182330
PMCID:
PMC10529056
9.
Sara A. Lewis, Sheetal Shetty, Sean Gamble, Jennifer Heim, Ningning Zhao, Gideon Stitt, Matthew Pankratz, Tara Mangum, Iris Marku, Robert B. Rosenberg, Angus A. Wilfong, Michael C. Fahey, Sukhan Kim, Scott J. Myers, Brian Appavu, Michael C. Kruer
Orphanet J Rare Dis. 2023; 18: 225. Published online 2023 Aug 3. doi: 10.1186/s13023-023-02756-9
PMCID:
PMC10398931
10.
Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak, Corina Heller, Julie Cohen, Richard Person, Aida Telegrafi, Chalongchai Phitsanuwong, Kaylene Fiala, Isabelle Thiffault, Florencia Del Viso, Dihong Zhou, Emily A Fleming, Tomi Pastinen, Ali Fatemi, Sruthi Thomas, Samuel I Pascual, Rosa J Torres, Carmen Prior, Clara Gómez-González, Saskia Biskup, James R Lupski, Dragan Maric, Miguel Holmgren, Debra Regier, Sho T Yano
Brain. 2023 Aug; 146(8): 3162–3171. Published online 2023 Apr 12. doi: 10.1093/brain/awad124
PMCID:
PMC10393399
11.
Tae-Yong Kim, Su-Ji Lee, Kyung-Min Kim, Sung-Rae Cho
J Int Med Res. 2023 Mar; 51(3): 03000605231162452. Published online 2023 Mar 29. doi: 10.1177/03000605231162452
PMCID:
PMC10064467
12.
Sayaka Kayumi, Luis A. Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García-Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher P. Barnett, Fernando Santos-Simarro, Marta Pacio-Míguez, Angela del Pozo, Somayeh Bakhtiari, Matthew Deardorff, Holly A. Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth J. Bhoj, Dong Li, Xilma R. Ortiz-Gonzalez, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Perez de Nanclares, Arrate Pereda, Isabel Llano-Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin-Robinet, Laurence Faivre, Aurore Garde, Benoit Mazel, Ange-Line Bruel, Michael L. Tress, Eva Brilstra, Amena Smith Fine, Kylie E. Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi C.J. Stevens, Joost Nicolai, Gaetan Lesca, Laurence Lion-François, Damien Haye, Nicolas Chatron, Amelie Piton, Mathilde Nizon, Benjamin Cogne, Siddharth Srivastava, Jennifer Bassetti, Candace Muss, Karen W. Gripp, Rebecca A. Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andres Moreno-De-Luca, Shelagh Joss, Mark J. Hamilton, Marta Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gecz, Mark A. Corbett
Genet Med.
Published in final edited form as: Genet Med. 2022 Nov; 24(11): 2351–2366. Published online 2022 Sep 9. doi: 10.1016/j.gim.2022.08.006
PMCID:
PMC9939054
13.
Dan Yan, Yu Sun, Na Xu, Yongguo Yu, Yongkun Zhan, the Mainland Chinese League of NEDSDV Rare Disease
Mol Genet Genomic Med. 2022 Nov; 10(11): e2067. Published online 2022 Sep 24. doi: 10.1002/mgg3.2067
PMCID:
PMC9651608
14.
Anastasia N Freedman, Lauren A Eaves, Julia E Rager, Noemi Gavino-Lopez, Lisa Smeester, Jacqueline Bangma, Hudson P Santos, Robert M Joseph, Karl CK Kuban, Thomas Michael O'Shea, Rebecca C Fry
Epigenomics. 2022 Aug; 14(15): 897–911. Published online 2022 Sep 8. doi: 10.2217/epi-2022-0061
PMCID:
PMC9475498
15.
Julian E. Alecu, Yuhsuke Ohmi, Robiul H. Bhuiyan, Kei-ichiro Inamori, Takahiro Nitta, Afshin Saffari, Hellen Jumo, Marvin Ziegler, Claudio Melo de Gusmao, Nutan Sharma, Shiho Ohno, Noriyoshi Manabe, Yoshiki Yamaguchi, Mariko Kambe, Keiko Furukawa, Mustafa Sahin, Jin-ichi Inokuchi, Koichi Furakawa, Darius Ebrahimi-Fakhari
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2022 Sep; 188(9): 2590–2598. Published online 2022 Jul 1. doi: 10.1002/ajmg.a.62880
PMCID:
PMC9378512
16.
Halie J. May, Jennifer A. Fasheun, Jennifer M. Bain, Evan H. Baugh, Louise E. Bier, Anya Revah-Politi, David P. Roye, Jr., David B. Goldstein, Jason B. Carmel, NYP/CUIMC Genomics Team
Dev Med Child Neurol.
Published in final edited form as: Dev Med Child Neurol. 2021 Dec; 63(12): 1448–1455. Published online 2021 Jun 10. doi: 10.1111/dmcn.14948
PMCID:
PMC9277698
17.
Na Li, Pei Zhou, Hongmei Tang, Lu He, Xiang Fang, Jinxiang Zhao, Xin Wang, Yifei Qi, Chuanbo Sun, Yunting Lin, Fengying Qin, Miaomiao Yang, Zhan Zhang, Caihua Liao, Shuxin Zheng, Xiaofang Peng, Ting Xue, Qianying Zhu, Hong Li, Yan Li, Liru Liu, Jingyu Huang, Li Liu, Changgeng Peng, Angela M Kaindl, Jozef Gecz, Dingding Han, Dong Liu, Kaishou Xu, Hao Hu
Brain. 2022 Jan; 145(1): 119–141. Published online 2021 Jun 2. doi: 10.1093/brain/awab209
PMCID:
PMC8967106
18.
Elodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty, Alex Pagnozzi, Sandra M. Nordlie, Brandon S. Guida, Patricia Cornejo, Helen Magee, James Liu, Bethany Y. Norton, Richard I. Webster, Lisa Worgan, Hakon Hakonarson, Jiankang Li, Yiran Guo, Mahim Jain, Alyssa Blesson, Lance H. Rodan, Mary-Alice Abbott, Anne Comi, Julie S. Cohen, Bader Alhaddad, Thomas Meitinger, Dominic Lenz, Andreas Ziegler, Urania Kotzaeridou, Theresa Brunet, Anna Chassevent, Constance Smith-Hicks, Joseph Ekstein, Tzvi Weiden, Andreas Hahn, Nazira Zharkinbekova, Peter Turnpenny, Arianna Tucci, Melissa Yelton, Rita Horvath, Serdal Gungor, Semra Hiz, Yavuz Oktay, Hanns Lochmuller, Marcella Zollino, Manuela Morleo, Giuseppe Marangi, Vincenzo Nigro, Annalaura Torella, Michele Pinelli, Simona Amenta, Ralf A. Husain, Benita Grossmann, Marion Rapp, Claudia Steen, Iris Marquardt, Mona Grimmel, Ute Grasshoff, G. Christoph Korenke, Marta Owczarek-Lipska, John Neidhardt, Francesca Clementina Radio, Cecilia Mancini, Dianela Judith Claps Sepulveda, Kirsty McWalter, Amber Begtrup, Amy Crunk, Maria J. Guillen Sacoto, Richard Person, Rhonda E. Schnur, Maria Margherita Mancardi, Florian Kreuder, Pasquale Striano, Federico Zara, Wendy K. Chung, Warren A. Marks, Clare L. van Eyk, Dani L. Webber, Mark A. Corbett, Kelly Harper, Jesia G. Berry, Alastair H. MacLennan, Jozef Gecz, Marco Tartaglia, Vincenzo Salpietro, John Christodoulou, Jan Kaslin, Sergio Padilla-Lopez, Kaya Bilguvar, Alexander Munchau, Zubair M. Ahmed, Robert B. Hufnagel, Michael C. Fahey, Reza Maroofian, Henry Houlden, Heinrich Sticht, Shrikant M. Mane, Aboulfazl Rad, Barbara Vona, Sheng Chih Jin, Tobias B. Haack, Christine Makowski, Yoel Hirsch, Saima Riazuddin, Michael C. Kruer
Am J Hum Genet. 2021 Oct 7; 108(10): 2006–2016. Published online 2021 Oct 8. doi: 10.1016/j.ajhg.2021.08.003
PMCID:
PMC8546233
19.
Gabrielle Lemire, Yoko A. Ito, Aren E. Marshall, Nicolas Chrestian, Valentina Stanley, Lauren Brady, Mark Tarnopolsky, Cynthia J. Curry, Taila Hartley, Wendy Mears, Alexa Derksen, Nadie Rioux, Nataly Laflamme, Harrol T. Hutchison, Lynn S. Pais, Maha S. Zaki, Tipu Sultan, Adrie D. Dane, Care4Rare Canada Consortium, Joseph G. Gleeson, Frédéric M. Vaz, Kristin D. Kernohan, Geneviève Bernard, Kym M. Boycott
Am J Hum Genet. 2021 Oct 7; 108(10): 2017–2023. Published online 2021 Sep 28. doi: 10.1016/j.ajhg.2021.09.005
PMCID:
PMC8546048
20.
Raziyeh Khalesi, Ehsan Razmara, Golareh Asgaritarghi, Ali Reza Tavasoli, Yasser Riazalhosseini, Daniel Auld, Masoud Garshasbi
BMC Neurol. 2021; 21: 180. Published online 2021 Apr 28. doi: 10.1186/s12883-021-02204-w
PMCID:
PMC8080372

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