Browsing by Subject "ASH1L"

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    • Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders 
      Faundes, Víctor; Newman, William G.; Bernardini, Laura; Canham, Natalie; Clayton-Smith, Jill; Dallapiccola, Bruno; Davies, Sally J.; Demos, Michelle K.; Goldman, Amy; Gill, Harinder; Horton, Rachel; Kerr, Bronwyn; Kumar, Dhavendra; Lehman, Anna; McKee, Shane; Morton, Jenny; Parker, Michael J.; Rankin, Julia; Robertson, Lisa; Temple, Karen (Cell Press, 2018)
      Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with ...