Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

H Guo; Y Li; Lucy Shen; TY Wang; XB Jia; LJ Liu; T Xu; MZ Ou; K Hoekzema; HD Wu; MA Gillentine; CY Liu; HL Ni; PW Peng; RJ Zhao; Y Zhang; C Phornphutkul; APA Stegmann; CE Prada; RJ Hopkin; JT Shieh; K McWalter; K G Monaghan; PM van Hasselt; K van Gassen; T Bai; M Long; L Han; YT Quan; ML Chen; YW Zhang; KKW Li; QM Zhang; JQ Tan; TF Zhu; YN Liu; N Pang; J Peng; DA Scott; SR Lalani; M Azamian; Grazia Verheijen - Mancini; DJ Adams; M Kvarnung; A Lindstrand; A Nordgren; J Pevsner; IA Osei-Owusu; C Romano; G Calabrese; O Galesi; J Gecz; E Haan; J Ranells; M Racobaldo; M Nordenskjold; S Madan-Khetarpal; J Sebastian; S Ball; XB Zou; JP Zhao; ZM Hu; F Xia; PF Liu; JA Rosenfeld; BBA de Vries; RA Bernier; ZQD Xu; HH Li; W Xie; RB Hufnagel; EE Eichler; K Xia

doi:10.1126/sciadv.aax2166

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

H Guo
, Y Li
, Lucy Shen
, TY Wang
, XB Jia
, LJ Liu
, T Xu
, MZ Ou
, K Hoekzema
, HD Wu
, MA Gillentine
, CY Liu
, HL Ni
, PW Peng
, RJ Zhao
, Y Zhang
, C Phornphutkul
, APA Stegmann
, CE Prada
, RJ Hopkin

JT Shieh, K McWalter, K G Monaghan, PM van Hasselt, K van Gassen, T Bai, M Long, L Han, YT Quan, ML Chen, YW Zhang, KKW Li, QM Zhang, JQ Tan, TF Zhu, YN Liu, N Pang, J Peng, DA Scott, SR Lalani, M Azamian, Grazia Verheijen - Mancini, DJ Adams, M Kvarnung, A Lindstrand, A Nordgren, J Pevsner, IA Osei-Owusu, C Romano, G Calabrese, O Galesi, J Gecz, E Haan, J Ranells, M Racobaldo, M Nordenskjold, S Madan-Khetarpal, J Sebastian, S Ball, XB Zou, JP Zhao, ZM Hu, F Xia, PF Liu, JA Rosenfeld, BBA de Vries, RA Bernier, ZQD Xu, HH Li, W Xie, RB Hufnagel, EE Eichler, K Xia

Clinical Genetics

External organisation

Research output: Contribution to journal › Article › Academic › peer-review

37 Citations (Scopus)

26 Downloads (Pure)

Original language	Undefined/Unknown
Article number	eaax2166
Journal	Science advances
Volume	5
Issue number	9
DOIs	https://doi.org/10.1126/sciadv.aax2166
Publication status	Published - 2019

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EMC OR-01

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Repub_119920_O-A.pdfFinal published version, 1.76 MB

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Cite this

Guo, H., Li, Y., Shen, L., Wang, TY., Jia, XB., Liu, LJ., Xu, T., Ou, MZ., Hoekzema, K., Wu, HD., Gillentine, MA., Liu, CY., Ni, HL., Peng, PW., Zhao, RJ., Zhang, Y., Phornphutkul, C., Stegmann, APA., Prada, CE., ... Xia, K. (2019). Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Science advances, 5(9), Article eaax2166. https://doi.org/10.1126/sciadv.aax2166

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title = "Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission",

author = "H Guo and Y Li and Lucy Shen and TY Wang and XB Jia and LJ Liu and T Xu and MZ Ou and K Hoekzema and HD Wu and MA Gillentine and CY Liu and HL Ni and PW Peng and RJ Zhao and Y Zhang and C Phornphutkul and APA Stegmann and CE Prada and RJ Hopkin and JT Shieh and K McWalter and Monaghan, \{K G\} and \{van Hasselt\}, PM and \{van Gassen\}, K and T Bai and M Long and L Han and YT Quan and ML Chen and YW Zhang and KKW Li and QM Zhang and JQ Tan and TF Zhu and YN Liu and N Pang and J Peng and DA Scott and SR Lalani and M Azamian and \{Verheijen - Mancini\}, Grazia and DJ Adams and M Kvarnung and A Lindstrand and A Nordgren and J Pevsner and IA Osei-Owusu and C Romano and G Calabrese and O Galesi and J Gecz and E Haan and J Ranells and M Racobaldo and M Nordenskjold and S Madan-Khetarpal and J Sebastian and S Ball and XB Zou and JP Zhao and ZM Hu and F Xia and PF Liu and JA Rosenfeld and \{de Vries\}, BBA and RA Bernier and ZQD Xu and HH Li and W Xie and RB Hufnagel and EE Eichler and K Xia",

year = "2019",

doi = "10.1126/sciadv.aax2166",

language = "Undefined/Unknown",

volume = "5",

journal = "Science advances",

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publisher = "American Association for the Advancement of Science",

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Guo, H, Li, Y, Shen, L, Wang, TY, Jia, XB, Liu, LJ, Xu, T, Ou, MZ, Hoekzema, K, Wu, HD, Gillentine, MA, Liu, CY, Ni, HL, Peng, PW, Zhao, RJ, Zhang, Y, Phornphutkul, C, Stegmann, APA, Prada, CE, Hopkin, RJ, Shieh, JT, McWalter, K, Monaghan, KG, van Hasselt, PM, van Gassen, K, Bai, T, Long, M, Han, L, Quan, YT, Chen, ML, Zhang, YW, Li, KKW, Zhang, QM, Tan, JQ, Zhu, TF, Liu, YN, Pang, N, Peng, J, Scott, DA, Lalani, SR, Azamian, M, Verheijen - Mancini, G, Adams, DJ, Kvarnung, M, Lindstrand, A, Nordgren, A, Pevsner, J, Osei-Owusu, IA, Romano, C, Calabrese, G, Galesi, O, Gecz, J, Haan, E, Ranells, J, Racobaldo, M, Nordenskjold, M, Madan-Khetarpal, S, Sebastian, J, Ball, S, Zou, XB, Zhao, JP, Hu, ZM, Xia, F, Liu, PF, Rosenfeld, JA, de Vries, BBA, Bernier, RA, Xu, ZQD, Li, HH, Xie, W, Hufnagel, RB, Eichler, EE & Xia, K 2019, 'Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission', Science advances, vol. 5, no. 9, eaax2166. https://doi.org/10.1126/sciadv.aax2166

TY - JOUR

T1 - Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

AU - Guo, H

AU - Li, Y

AU - Shen, Lucy

AU - Wang, TY

AU - Jia, XB

AU - Liu, LJ

AU - Xu, T

AU - Ou, MZ

AU - Hoekzema, K

AU - Wu, HD

AU - Gillentine, MA

AU - Liu, CY

AU - Ni, HL

AU - Peng, PW

AU - Zhao, RJ

AU - Zhang, Y

AU - Phornphutkul, C

AU - Stegmann, APA

AU - Prada, CE

AU - Hopkin, RJ

AU - Shieh, JT

AU - McWalter, K

AU - Monaghan, K G

AU - van Hasselt, PM

AU - van Gassen, K

AU - Bai, T

AU - Long, M

AU - Han, L

AU - Quan, YT

AU - Chen, ML

AU - Zhang, YW

AU - Li, KKW

AU - Zhang, QM

AU - Tan, JQ

AU - Zhu, TF

AU - Liu, YN

AU - Pang, N

AU - Peng, J

AU - Scott, DA

AU - Lalani, SR

AU - Azamian, M

AU - Verheijen - Mancini, Grazia

AU - Adams, DJ

AU - Kvarnung, M

AU - Lindstrand, A

AU - Nordgren, A

AU - Pevsner, J

AU - Osei-Owusu, IA

AU - Romano, C

AU - Calabrese, G

AU - Galesi, O

AU - Gecz, J

AU - Haan, E

AU - Ranells, J

AU - Racobaldo, M

AU - Nordenskjold, M

AU - Madan-Khetarpal, S

AU - Sebastian, J

AU - Ball, S

AU - Zou, XB

AU - Zhao, JP

AU - Hu, ZM

AU - Xia, F

AU - Liu, PF

AU - Rosenfeld, JA

AU - de Vries, BBA

AU - Bernier, RA

AU - Xu, ZQD

AU - Li, HH

AU - Xie, W

AU - Hufnagel, RB

AU - Eichler, EE

AU - Xia, K

PY - 2019

Y1 - 2019

U2 - 10.1126/sciadv.aax2166

DO - 10.1126/sciadv.aax2166

M3 - Article

C2 - 31579823

SN - 2375-2548

VL - 5

JO - Science advances

JF - Science advances

IS - 9

M1 - eaax2166

ER -