Cristina Gontan

The paper shows that SYNGAP1 splice-switching therapy may be ineffective in mature neurons due to reduced A3SS transcript abundance.

The paper shows that X-chromosome upregulation occurs gene-by-gene at both RNA and protein levels in mouse pluripotent stem cells.

The paper introduces DCM-time machine (DCM-TM) to track gene and enhancer activity during human iPSC differentiation, showing its ability to label active elements and correlate methylation changes with cell state transitions.

This study identifies HCFC1 and YY1 as factors that recruit COMPASS and Integrator complexes to initiate X chromosome inactivation by regulating Xist and its cis-regulatory elements.

This study develops a mouse model to monitor Mecp2 reactivation in neural stem cells and identifies genetic and epigenetic factors influencing reactivation of the inactive X chromosome.

This study shows that SPEN is essential for Xist upregulation during X chromosome inactivation initiation in female mouse ESCs by silencing Tsix.