Ana Rita Grosso

The paper analyzes the expression and regulatory patterns of CDG-causative genes across tissues to explain phenotypic variability in congenital disorders of glycosylation.

This study shows that SRRM2 splicing factor dosage affects embryonic stem cell pluripotency and lineage commitment, with implications for developmental diseases and tumorigenesis.

This study shows XCI erosion in female hiPSCs is common, heterogeneous, and persists during differentiation, affecting X-linked gene expression without altering DNA methylation levels.

The paper identifies transcription factors and chromatin regulators critical for haemato-endothelial mesoderm formation using CRISPR-Cas9 screens in mouse embryonic stem cells.

This study shows that TET enzyme-mediated 5hmC formation promotes R-loop formation during transcription in stem cells, affecting gene expression.

The paper identifies cell type-specific alternative splicing changes in lung development, particularly in Vegfa, that may prepare the lung for postnatal function.