Teresa Romeo Luperchio

The paper introduces a missense mouse model of Kabuki syndrome with intact KMT2D function, showing similar phenotypes to loss-of-function models but without altered adult neurogenesis and with novel kidney agenesis.

The paper investigates the phenotypic effects of ELN gene variants using exome data and phenotyping, finding associations with connective tissue disorders beyond known conditions.

The paper examines chromatin disruption in different cell types of Kabuki syndrome mice and finds that neuronal chromatin abnormalities differ from those in B and T cells, with unique disruptions at CpG islands and aging-related regions.

The paper identifies shared epigenetic and transcriptomic disruptions across three MDEMs to map functional epigenetic variation.

This study identifies disrupted endochondral ossification in Kabuki syndrome mice due to precocious chondrocyte differentiation, linking KMT2D dysfunction to altered Shox2 expression and growth retardation.

This study uses chromosome conformation paints to show that LADs form compact regions at the nuclear lamina and are linked to B compartments, with some regions interacting with the A compartment.