Katarina Vizar Cisarova

This study identifies RASmutEZH2inact as a distinct CMML subgroup with increased MEK inhibitor sensitivity due to MAPK/ERK hyperactivation.

This study identifies RAS mutations as a key driver of extramedullary acute myeloid leukemia, showing their role in promoting leukemic cell migration and infiltration through the JAML-PI3K/AKT pathway.

This study uses GWAS to identify Mendelian and non-Mendelian variants associated with retinitis pigmentosa, uncovering new genetic causes and therapeutic targets.

The paper identifies a common variant in the Japanese population that shows quasi-Mendelian inheritance patterns in rare retinal ciliopathy.