Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH.  2015.  Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.. Hum Mol Genet. 24(15):4443-53.

Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM et al..  2014.  Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.. Cell. 157(3):636-50.