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Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
Author(s) -
Hui Guo,
Ying Li,
Lu Shen,
Tianyun Wang,
Xiangbin Jia,
Lijuan Liu,
Tao Xu,
Mengzhu Ou,
Kendra Hoekzema,
Huidan Wu,
Madelyn A. Gillentine,
Cenying Liu,
Hailun Ni,
Pengwei Peng,
Rongjuan Zhao,
Yu Zhang,
Chanika Phornphutkul,
Alexander P.A. Stegmann,
Carlos E. Prada,
Robert J. Hopkin,
Joseph T.C. Shieh,
Kirsty McWalter,
Kristin G. Monaghan,
Peter M. van Hasselt,
Koen L.I. van Gassen,
Ting Bai,
Long Min,
Lin Han,
Yingting Quan,
Meilin Chen,
Yaowen Zhang,
Kuokuo Li,
Qiumeng Zhang,
Jieqiong Tan,
Tengfei Zhu,
Yaning Liu,
Nan Pang,
Jing Peng,
Daryl A. Scott,
Seema R. Lalani,
Mahshid S. Azamian,
Grazia M.S. Mancini,
Darius J. Adams,
Malin Kvarnung,
Anna Lindstrand,
Ann Nordgren,
Jonathan Pevsner,
Ikeoluwa OseiOwusu,
Corrado Romano,
Giuseppe Calabrese,
Ornella Galesi,
Jozef Gécz,
Eric Haan,
Judith D. Ranells,
Melissa Racobaldo,
Magnus Nordenskjöld,
Suneeta MadanKhetarpal,
Jessica Sebastian,
Susie Ball,
Xiaobing Zou,
Jingping Zhao,
Zhengmao Hu,
Fan Xia,
Pengfei Liu,
Jill A. Rosenfeld,
Bert B.A. de Vries,
Raphael Bernier,
Qing Xu,
Honghui Li,
Wei Xie,
Robert B. Hufnagel,
Evan E. Eichler,
Kun Xia
Publication year - 2019
Publication title -
science advances
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.928
H-Index - 146
ISSN - 2375-2548
DOI - 10.1126/sciadv.aax2166
Subject(s) - autism , neuroscience , neurotransmission , transmission (telecommunications) , psychology , biology , developmental psychology , computer science , genetics , telecommunications , receptor
CSDE1 disruptive mutations are associated with autism.

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