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.
Media Center
Paderova, J. et al. Clinical Genetics.
"Alamut Visual has dramatically improved our research capabilities and our testing workflow related to both NGS and Sanger based tests. We wouldn't want to imagine a world without it.
Alamut Batch is an intuitive, comprehensive and cost-effective solution to annotation."
ADAM COOVADIA
Johns Hopkins Medicine, All Children's Hospital