Sara Cuvertino

This study examines epigenome and transcriptome changes in KS1 iPSCs and neuronal differentiation stages, identifying altered H3K4 methylation and gene expression patterns.

The paper analyzes clinical and mechanistic data from individuals with ACTB/ACTG1 variants to identify distinct disease phenotypes and molecular mechanisms of non-muscle actinopathies.

The paper quantifies higher order interactions in DNA methylation data from Kabuki syndrome patients and controls, revealing reduced epigenome complexity and novel biological relationships.

This study shows that adding TTNPB and timed BMP2 to hPSC differentiation improves chondrogenesis, upregulating genes related to skeletal and cartilage development.

The paper identifies intergenic duplications at Xq26.1 as the genetic cause of Bazex-Dupre-Christol syndrome, linking them to ARHGAP36 dysregulation and BCC susceptibility.

This study investigates how KMT2D mutations in Kabuki Syndrome disrupt neuronal function through chromatin and transcriptional changes, independent of H3K4me1.