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 JoblingMoira 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

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Biochemistry, Genetics and Molecular Biology