I investigate epigenetic regulation using hESCs, iPSCs, and brain organoid systems. My work focuses on understanding how overdosage of specific X-linked genes affects cellular identity and developmental processes, and on uncovering the mechanisms through which distinct phenotypes emerge.

I study the effects of sex chromosome overdosage on neuronal and cardiac development using in vitro models. My work has first been dedicated to the derivation of a cohort of X and Y aneuploid iPSCs obtained from patients with Klinefelter (47,XXY), and Jacobs (47,XYY) Syndromes, and high-grade X aneuploidies (48, XXXY and 49,XXXXY). In particular.

investigating the mechanisms that regulate primordial germ cells (PGC) differentiation and fertility in Klinefelter syndrome. By integrating patient-derived induced pluripotent stem cells (iPSCs) and mouse models,