De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

L.E.L.M. Vissers*, S. Kalvakuri, E. de Boer, S. Geuer, M. Oud, I. van Outersterp, M. Kwint, M. Witmond, S. Kersten, D.L. Polla, D. Weijers, A. Begtrup, K. McWalter, A. Ruiz, E. Gabau, J.E.V. Morton, C. Griffith, K. Weiss, C. Gamble, J. BartleyH.J. Vernon, K. Brunet, C. Ruivenkamp, S.G. Kant, P. Kruszka, A. Larson, A. Afenjar, T.B. de Villemeur, K. Nugent, F.L. Raymond, H. Venselaar, F. Demurger, C. Soler-Alfonso, D. Li, E. Bhoj, I. Hayes, N.P. Hamilton, A. Ahmad, R. Fisher, M. van den Born, M. Willems, A. Sorlin, J. Delanne, S. Moutton, P. Christophe, F.T. Mau-Them, A. Vitobello, H. Goel, L. Massingham, C. Phornphutkul, Maaike Vreeburg, DDD Study, Rolf Bodmer*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

12 Citations (Web of Science)
Original languageEnglish
Pages (from-to)164-172
Number of pages9
JournalAmerican Journal of Human Genetics
Issue number1
Publication statusPublished - 2 Jul 2020


  • deadenylase complex
  • regulators
  • repressor
  • subunit

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