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Items: 1 to 20 of 35

1.
Yimeng Ren, Yun Qian, Luoyan Ai, Yile Xie, Yaqi Gao, Ziyan Zhuang, Jinxian Chen, Ying-Xuan Chen, Jing-Yuan Fang
Nat Commun. 2021; 12: 5405. Published online 2021 Sep 13. doi: 10.1038/s41467-021-25662-9
PMCID:
PMC8438078
2.
Shereen G. Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W. Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pais, Chloe A. Stutterd, Vasiliki Karageorgou, Amber Begtrup, Amy Crunk, Jane Juusola, Rebecca Willaert, Leigh A. Flore, Kelly Kennelly, Christopher Spencer, Martha Brown, Pamela Trapane, Anna C. E. Hurst, S. Lane Rutledge, Dana H. Goodloe, Marie T. McDonald, Vandana Shashi, Kelly Schoch, Undiagnosed Diseases Network, Hoda Tomoum, Raghda Zaitoun, Zahra Hadipour, Hamid Galehdari, Alistair T. Pagnamenta, Majid Mojarrad, Alireza Sedaghat, Patrícia Dias, Sofia Quintas, Atiyeh Eslahi, Gholamreza Shariati, Peter Bauer, Cas Simons, Henry Houlden, Mahmoud Y. Issa, Maha S. Zaki, Reza Maroofian, Joseph G. Gleeson
Eur J Hum Genet. 2021 Feb; 29(2): 271–279. Published online 2020 Sep 8. doi: 10.1038/s41431-020-00717-5
PMCID:
PMC7868361
3.
Xuan Kong, Jin Qian, Li-Sha Chen, Ying-Chao Wang, Ji-Lin Wang, Haoyan Chen, Yu-Rong Weng, Shu-Liang Zhao, Jie Hong, Ying-Xuan Chen, Weiping Zou, Jie Xu, Jing-Yuan Fang
J Natl Cancer Inst. 2013 Nov 20; 105(22): 1738–1749. Published online 2013 Oct 8. doi: 10.1093/jnci/djt271
PMCID:
PMC4042874
4.
Shu-Liang Zhao, Jie Hong, Zuo-Quan Xie, Jie-Ting Tang, Wen-Yu Su, Wan Du, Ying-Xuan Chen, Rong Lu, Dan-Feng Sun, Jing-Yuan Fang
PLoS One. 2011; 6(8): e23262. Published online 2011 Aug 3. doi: 10.1371/journal.pone.0023262
PMCID:
PMC3149646
5.
Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehlivan, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary J H Willis, Zeynep H Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V Hunter, Shalini N Jhangiani, Jawid M Fatih, Jill A Rosenfeld, Jennifer E Posey, Richard A Gibbs, Ender Karaca, Sean Massey, Thisara G Ranasinghe, Patrick Sleiman, Chris Troedson, James R Lupski, Michael Sacher, Nava Segev, Hakon Hakonarson, John Christodoulou
Brain. 2020 Jan; 143(1): 112–130. Published online 2019 Dec 3. doi: 10.1093/brain/awz374
PMCID:
PMC6935753
6.
Matthias Elstner, Christopher M. Morris, Katharina Heim, Peter Lichtner, Andreas Bender, Divya Mehta, Claudia Schulte, Manu Sharma, Gavin Hudson, Stefano Goldwurm, Alessandro Giovanetti, Massimo Zeviani, David J. Burn, Ian G. McKeith, Robert H. Perry, E. Jaros, Rejko Krüger, H.-Erich Wichmann, Stefan Schreiber, Harry Campbell, James F. Wilson, Alan F. Wright, Malcolm Dunlop, Giorgio Pistis, Daniela Toniolo, Patrick F. Chinnery, Thomas Gasser, Thomas Klopstock, Thomas Meitinger, Holger Prokisch, Douglass M. Turnbull
Ann Neurol.
Published in final edited form as: Ann Neurol. 2009 Dec; 66(6): 792–798. doi: 10.1002/ana.21780
PMCID:
PMC4034432
7.
Iryna M. Ethell, Kazuki Hagihara, Yoshiaki Miura, Fumitoshi Irie, Yu Yamaguchi
J Cell Biol. 2000 Oct 2; 151(1): 53–68. doi: 10.1083/jcb.151.1.53
PMCID:
PMC2189810
8.
Christopher J. Westlake, Lisa M. Baye, Maxence V. Nachury, Kevin J. Wright, Karen E. Ervin, Lilian Phu, Cecile Chalouni, John S. Beck, Donald S. Kirkpatrick, Diane C. Slusarski, Val C. Sheffield, Richard H. Scheller, Peter K. Jackson
Proc Natl Acad Sci U S A. 2011 Feb 15; 108(7): 2759–2764. Published online 2011 Jan 27. doi: 10.1073/pnas.1018823108
PMCID:
PMC3041065
9.
Jane J. Kim, Zhanna Lipatova, Nava Segev
Front Cell Dev Biol. 2016; 4: 20. Published online 2016 Mar 30. doi: 10.3389/fcell.2016.00020
PMCID:
PMC4811894
10.
P. James Scrivens, Baraa Noueihed, Nassim Shahrzad, Sokunthear Hul, Stephanie Brunet, Michael Sacher
Mol Biol Cell. 2011 Jun 15; 22(12): 2083–2093. doi: 10.1091/mbc.E10-11-0873
PMCID:
PMC3113772
11.
Chun-Hung Lai, Chang-Yuan Chou, Lan-Yang Ch'ang, Chung-Shyan Liu, Wen-chang Lin
Genome Res. 2000 May; 10(5): 703–713. doi: 10.1101/gr.10.5.703
PMCID:
PMC310876
12.
Ashari R Kannangara, Daniel M Poole, Colten M McEwan, Joshua C Youngs, Vajira K Weerasekara, Alex M Thornock, Misael T Lazaro, Eranga R Balasooriya, Laura M Oh, Erik J Soderblom, Jonathan J Lee, Daniel L Simmons, Joshua L Andersen
EMBO Rep. 2021 Oct 5; 22(10): e51136. Published online 2021 Aug 9. doi: 10.15252/embr.202051136
PMCID:
PMC8490997
13.
Qing-Hua Zhang, Min Ye, Xin-Yan Wu, Shuang-Xi Ren, Meng Zhao, Chun-Jun Zhao, Gang Fu, Yu Shen, Hui-Yong Fan, Gang Lu, Ming Zhong, Xiang-Ru Xu, Ze-Guang Han, Ji-Wang Zhang, Jiong Tao, Qiu-Hua Huang, Jun Zhou, Geng-Xi Hu, Jian Gu, Sai-Juan Chen, Zhu Chen
Genome Res. 2000 Oct; 10(10): 1546–1560. doi: 10.1101/gr.140200
PMCID:
PMC310934
14.
Amelia E Ohnstad, Jose M Delgado, Brian J North, Isha Nasa, Arminja N Kettenbach, Sebastian W Schultz, Christopher J Shoemaker
EMBO J. 2020 Dec 15; 39(24): e104948. Published online 2020 Nov 23. doi: 10.15252/embj.2020104948
PMCID:
PMC7737610
15.
Yutaka Suzuki, Riu Yamashita, Matsuyuki Shirota, Yuta Sakakibara, Joe Chiba, Junko Mizushima-Sugano, Kenta Nakai, Sumio Sugano
Genome Res. 2004 Sep; 14(9): 1711–1718. doi: 10.1101/gr.2435604
PMCID:
PMC515316
16.
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491
PMCID:
PMC4869170
17.
Huiming Lu, Raghavendra A. Shamanna, Jessica K. de Freitas, Mustafa Okur, Prabhat Khadka, Tomasz Kulikowicz, Priscella P. Holland, Jane Tian, Deborah L. Croteau, Anthony J. Davis, Vilhelm A. Bohr
Nat Commun. 2017; 8: 2039. Published online 2017 Dec 11. doi: 10.1038/s41467-017-02146-3
PMCID:
PMC5725494
18.
Kari Salokas, Xiaonan Liu, Tiina Öhman, Iftekhar Chowdhury, Lisa Gawriyski, Salla Keskitalo, Markku Varjosalo
EMBO Rep. 2022 Jun; 23(6): e54041. Published online 2022 Apr 5. doi: 10.15252/embr.202154041
PMCID:
PMC9171411
19.
Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low
Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120
PMCID:
PMC10151615
20.
Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi
J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907
PMCID:
PMC3190826

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