J. Paderova and colleagues describe a diagnosis strategy for Kabuki syndrome (KS) that includes KMT2D sequencing followed by array CGH, and observed disease features evaluated according to the gMLL2-Kabuki score defined by Makrythanasis et al.
Paderova, J. et al. Clinical Genetics.
"We have found Alamut to be an immensely useful tool, and would recommend Alamut to anyone looking for a powerful yet straightforward software program that is able to accurately catalogue and evaluate mutations."
JOHN GARCIA, Invitae
San Francisco, USA