Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R. F. Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp-Versteeg, Marga Schepens, Calvin C. O. Man, Christian Gilissen, Megan T. Cho, Kirsty McWalter, Margje Sinnema, James W. Wheless, Marleen E. H. Simon, Casie A. Genetti, Alicia M. Casey, Paulien A. Terhal, Jasper J. van Der Smagt, Koen L. van Gassen, Pascal JosetAngela Bahr, Katharina Steindl, Anita Rauch, Elmar Keller, Annick Raas-Rothschild, David A. Koolen, Pankaj B. Agrawal, Trevor L. Hoffman, Nina N. Powell-Hamilton, Isabelle Thiffault, Kendra Engleman, Dihong Zhou, Olaf Bodamer, Julia Hoefele, Korbinian M. Riedhammer, Eva M. C. Schwaibold, Velibor Tasic, Dirk Schubert, Deniz Top, Rolph Pfundt, Martin R. Higgs, Jamie M. Kramer, Tjitske Kleefstra*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

11 Citations (Web of Science)
Original languageEnglish
Pages (from-to)2013-2024
Number of pages12
JournalMolecular Psychiatry
Volume26
Issue number6
Early online date28 Apr 2020
DOIs
Publication statusPublished - Jun 2021

Keywords

  • SELFISH SPERMATOGONIAL SELECTION
  • HISTONE H3K4 METHYLASES
  • OF-FUNCTION VARIANTS
  • DE-NOVO MUTATIONS
  • COMPASS FAMILY
  • INTELLECTUAL DISABILITY
  • GENETIC-VARIATION
  • PATERNAL AGE
  • SCHIZOPHRENIA
  • PROTEIN

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