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

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 M. 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 Wegner, Kathleen Sisco, Marwan Shinawi, Michael F. Wangler, Rosanna Weksberg, Shinya Yamamoto, Gregory Costain, Hugo J. Bellen