Greta Pintacuda

TEscape uses long-read sequencing to comprehensively annotate the human transposable element transcriptome, identifying over 83,000 previously unannotated isoforms.

The paper identifies three neuron-specific schizophrenia protein networks enriched for genetic and transcriptional perturbations and validates their disruption in 22q11.2 deletion carriers.

The paper uses hiPS cell-derived cortical organoids to study how genetic mutations in ASD converge on shared transcriptional changes during development.

The paper uses brain cell-type-specific protein interactomes to interpret genetic data in schizophrenia and identifies enriched networks and genes associated with the disease.

The paper identifies a protein-protein interaction network in human excitatory neurons for 13 ASD risk genes, revealing novel interactions and convergent mechanisms contributing to autism spectrum disorders.

The paper shows that m6A modification affects alternative intron/exon inclusion in nascent RNA by disrupting splicing when METTL3 is depleted.

Genoppi integrates proteomic and genetic data to identify cell-type-specific interactions and their role in disease.

The paper identifies brain-wide and region-specific gene co-expression modules using RNA-seq data and links them to disease risk variants and biological processes.

The paper systematically analyzes Xist-mediated allelic silencing in ES cells, identifying key factors and their roles in gene silencing during X chromosome inactivation.

This study shows that SmcHD1 prevents TAD formation on the inactive X chromosome by altering chromatin structure and epigenetic marks.