Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

  • Undiagnosed Disease Network
  • , Zelha Nil
  • , Ashish R. Deshwar
  • , Yan Huang
  • , Scott Barish
  • , Xi Zhang
  • , Sanaa Choufani
  • , Polona Le Quesne Stabej
  • , Ian Hayes
  • , Patrick Yap
  • , Chad Haldeman-Englert
  • , Carolyn Wilson
  • , Trine Prescott
  • , Kristian Tveten
  • , Arve Vøllo
  • , Devon Haynes
  • , Patricia G. Wheeler
  • , Jessica Zon
  • , Cheryl Cytrynbaum
  • , Rebekah Jobling
    • Moira Blyth, Siddharth Banka, Alexandra Afenjar, Cyril Mignot, Florence Robin-Renaldo, Boris Keren, Oguz Kanca, Xiao Mao, Daniel J. Wegner, Kathleen Sisco, Marwan Shinawi, Michael F. Wangler, Rosanna Weksberg, Shinya Yamamoto, Gregory Costain, Hugo J. Bellen

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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Keyphrases

Biochemistry, Genetics and Molecular Biology