Simão Teixeira da Rocha

Stem-cell modeling of cerebellar dysfunction of Angelman syndrome

This study uses stem cell-derived cerebellar organoids to model Angelman syndrome, revealing impaired development and neuronal dysfunction in cerebellar cells.

Erosion of X-Chromosome Inactivation in female hiPSCs is heterogeneous and persists during differentiation

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.

Stability of Genomic Imprinting and X-Chromosome Inactivation in the Aging Brain

The paper examines genomic imprinting and X-chromosome inactivation stability in aging mouse brains, finding they remain largely stable despite epigenetic drift.

Sex of donor cell and reprogramming conditions predict the extent and nature of imprinting defects in mouse iPSCs

The paper shows that donor cell sex and reprogramming conditions affect imprinting defects in mouse iPSCs, with distinct methylation patterns observed under different culture conditions.

Tracking H3K27me3 and H4K20me1 during XCI reveals similarities in enrichment dynamics

The paper tracks H3K27me3 and H4K20me1 dynamics during XCI and finds they accumulate concurrently but have distinct genomic distributions, with H4K20me1 possibly contributing to chromatin compaction.

IMPLICON: an ultra-deep sequencing method to uncover DNA methylation at imprinted regions

IMPLICON is a high-throughput method for measuring DNA methylation at imprinted regions with high coverage and resolution, validated in mice and adapted for human use to detect imprinting errors.

Exploring the role of Polycomb recruitment in Xist-mediated silencing of the X chromosome in ES cells

This study investigates the role of Polycomb recruitment in Xist-mediated X chromosome silencing in mouse ES cells, finding that silencing can occur independently of Polycomb complexes.