Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
Titel:
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
Auteur:
Nil, Zelha Deshwar, Ashish R. Huang, Yan Barish, Scott Zhang, Xi Choufani, Sanaa Le Quesne Stabej, Polona Hayes, Ian Yap, Patrick Haldeman-Englert, Chad Wilson, Carolyn Prescott, Trine Tveten, Kristian Vøllo, Arve Haynes, Devon Wheeler, Patricia G. Zon, Jessica Cytrynbaum, Cheryl Jobling, Rebekah Blyth, Moira Banka, Siddharth Afenjar, Alexandra Mignot, Cyril Robin-Renaldo, Florence Keren, Boris Kanca, Oguz Mao, Xiao Wegner, Daniel J. Sisco, Kathleen Shinawi, Marwan Wangler, Michael F. Weksberg, Rosanna Yamamoto, Shinya Costain, Gregory Bellen, Hugo J.