Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J. A. Weerts, Kristina Lanko, Francisco J. Guzman-Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona-Londono, Karla A. Pena-Guerra, Yolande van Bever, Barbara W. van Paassen, Anneke Kievit, Marjon van Slegtenhorst, Nicholas M. Allen, Caroline M. Kehoe, Hannah K. Robinson, Lewis Pang, Selina H. Banu, Mashaya Zaman, Stephanie Efthymiou, Henry Houlden, Irma JarvelaLeena Lauronen, Tuomo Maatta, Isabelle Schrauwen, Suzanne M. Leal, Claudia A. L. Ruivenkamp, Daniela Q. C. M. Barge-Schaapveld, Cacha M. P. C. D. Peeters-Scholte, Hamid Galehdari, Neda Mazaheri, Sanjay M. Sisodiya, Victoria Harrison, Angela Sun, Jenny Thies, Luis Alberto Pedroza, Yana Lara-Taranchenko, Ivan K. Chinn, James R. Lupski, Alexandra Garza-Flores, Jeffery McGlothlin, Lin Yang, Shaoping Huang, Xiaodong Wang, Tamison Jewett, Gretchen Rosso, Xi Lin, Shehla Mohammed, J. Lawrence Merritt, Ghayda M. Mirzaa, Marjolein Willemsen, Susanne Koning, Genomics England Research Consortium

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Number of pages16
JournalGenetics in Medicine
DOIs
Publication statusE-pub ahead of print - 3 Aug 2021

Keywords

  • INTELLECTUAL DISABILITY
  • METHYLTRANSFERASE
  • MICRODELETION
  • 12Q24.31
  • SETD1B
  • RECOGNITION
  • VARIANTS
  • GENES
  • MOTIF

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