CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Snijders Blok, L, Rousseau, J, Twist, J et al. (76 more authors) (2018) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9 (1). 4619. ISSN 2041-1723

Abstract

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Authors/Creators:
  • Snijders Blok, L
  • Rousseau, J
  • Twist, J
  • Ehresmann, S
  • Takaku, M
  • Venselaar, H
  • Rodan, LH
  • Nowak, CB
  • Douglas, J
  • Swoboda, KJ
  • Steeves, MA
  • Sahai, I
  • Stumpel, CTRM
  • Stegmann, APA
  • Wheeler, P
  • Willing, M
  • Fiala, E
  • Kochhar, A
  • Gibson, WT
  • Cohen, ASA
  • Agbahovbe, R
  • Innes, AM
  • Au, PYB
  • Rankin, J
  • Anderson, IJ
  • Skinner, SA
  • Louie, RJ
  • Warren, HE
  • Afenjar, A
  • Keren, B
  • Nava, C
  • Buratti, J
  • Isapof, A
  • Rodriguez, D
  • Lewandowski, R
  • Propst, J
  • van Essen, T
  • Choi, M
  • Lee, S
  • Chae, JH
  • Price, S
  • Schnur, RE
  • Douglas, G
  • Wentzensen, IM
  • Zweier, C
  • Reis, A
  • Bialer, MG
  • Moore, C
  • Koopmans, M
  • Brilstra, EH
  • Monroe, GR
  • van Gassen, KLI
  • van Binsbergen, E
  • Newbury-Ecob, R
  • Bownass, L
  • Bader, I
  • Mayr, JA
  • Wortmann, SB
  • Jakielski, KJ
  • Strand, EA
  • Kloth, K
  • Bierhals, T
  • The DDD Study,
  • Roberts, JD
  • Petrovich, RM
  • Machida, S
  • Kurumizaka, H
  • Lelieveld, S
  • Pfundt, R
  • Jansen, S
  • Deriziotis, P
  • Faivre, L
  • Thevenon, J
  • Assoum, M
  • Shriberg, L
  • Kleefstra, T
  • Brunner, HG
  • Fisher, SE
  • Campeau, PM
Copyright, Publisher and Additional Information: © 2018, the author(s). This article is licensed under a Creative Commons Attribution 4.0 International License.
Dates:
  • Published: 5 November 2018
  • Accepted: 27 July 2018
  • Published (online): 5 November 2018
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Genetics (LIBACS) (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 11 Jul 2019 15:24
Last Modified: 11 Jul 2019 15:24
Status: Published
Publisher: Nature Research
Identification Number: https://doi.org/10.1038/s41467-018-06014-6
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