Víctor Sánchez-Gaya

The paper evaluates the bioinformatic tool POSTRE to distinguish pathogenic from benign GPR101 duplications associated with X-LAG by analyzing enhancer hijacking in a tissue-specific context.

This study investigates ZIC2's role in neural development, showing it acts as a pioneer transcription factor during pluripotency exit and an enhancer activator during neural induction.

The paper shows that developmental genes and CTCF site clusters work together to enhance insulation of regulatory domains in mouse embryonic stem cells.

POSTRE predicts the pathogenicity of structural variants in human congenital disorders by identifying disease-causative genes and mechanisms.

The paper shows that orphan CpG islands enhance the regulatory activity of poised enhancers and influence the responsiveness of target genes.