Research output

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

Research output: Contribution to journalArticleAcademicpeer-review

Associated researcher

  • DDD Study
  • Blok, L. S.
  • Rousseau, J.
  • Twist, J.
  • Ehresmann, S.
  • Takaku, M.
  • Venselaar, H.
  • Rodan, L. H.
  • Nowak, C. B.
  • Douglas, J.
  • Swoboda, K. J.
  • Steeves, M. A.
  • Sahai, I.
  • Stumpel, C.T.R.M.

  • Stegmann, A.P.A.

  • Wheeler, P.
  • Willing, M.
  • Fiala, E.
  • Kochhar, A.
  • Gibson, W. T.
  • Cohen, A. S. A.
  • Agbahovbe, R.
  • Innes, A. M.
  • Au, P. Y. B.
  • Rankin, J.
  • Anderson, I. J.
  • Skinner, S. A.
  • Louie, R. J.
  • Warren, H. E.
  • Afenjar, A.
  • Keren, B.
  • Nava, C.
  • Buratti, J.
  • Isapof, A.
  • Rodriguez, D.
  • Lewandowski, R.
  • Propst, J.
  • van Essen, T.
  • Choi, M.
  • Lee, S.
  • Chae, J. H.
  • Price, S.
  • Schnur, R. E.
  • Douglas, G.
  • Wentzensen, I. M.
  • Zweier, C.
  • Reis, A.
  • Bialer, M. G.
  • Moore, C.
  • Jansen, S.C.P.

  • Brunner, H.G.

Associated organisations

    Research areas

  • DE-NOVO MUTATIONS, CHROMATIN REMODELING COMPLEX, INTELLECTUAL DISABILITY, DEACETYLASE COMPLEX, EXOME, DISORDER, FAMILY, GENE, NURD, DIAGNOSIS
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Details

Original languageEnglish
Article number4619
Number of pages12
JournalNature Communications
Volume9
Issue number1
DOIs
Publication statusPublished - 5 Nov 2018