Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
Zelha Nil(Baylor College of Medicine), Hugo J. Bellen(Baylor College of Medicine), Sanaa Choufani(Hospital for Sick Children), Chad Haldeman‐Englert, Boris Keren(Sorbonne Université), Patrick Yap(Auckland District Health Board), Cheryl Cytrynbaum(Hospital for Sick Children), Yan Huang(Baylor College of Medicine), Scott Barish(Baylor College of Medicine), Rebekah Jobling(Hospital for Sick Children), Daniel Wegner(University of Tennessee Health Science Center), Patricia G. Wheeler(Nemours Children's Clinic), Moira Blyth(Chapel Allerton Hospital), Ashish R. Deshwar(University of Toronto), Kristian Tveten(Telemark Hospital), Rosanna Weksberg(Hospital for Sick Children), Polona Le Quesne Stabej(University of Auckland), Carolyn M. Wilson, Devon Haynes(Guy's Hospital), Gregory Costain(University of Toronto), Kathleen Sisco(Washington University in St. Louis), Shinya Yamamoto(Kyoto University), Siddharth Banka(University of Manchester), Xiao Mao(Buck Institute for Research on Aging), Jessica Zon(Hospital for Sick Children), Cyril Mignot(Sorbonne Université), Arve Vøllo(Østfold Hospital Trust), Ian Hayes(Auckland City Hospital), Trine Prescott(Telemark Hospital), Michael F. Wangler(Baylor College of Medicine), Florence Robin-Renaldo(Sorbonne Université), Xi Zhang(Jiangsu Province Hospital), Marwan Shinawi(St. Louis Children's Hospital), Alexandra Afenjar(Sorbonne Université), Oguz Kanca(University of California, Los Angeles)
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