Robert Petryszak

The paper presents a spatial transcriptomic atlas of autism-associated genes in the developing human brain, identifying convergence in the thalamus and germinal zones.

The paper identifies a spatiotemporal cancer cell trajectory in glioblastoma that explains tumor heterogeneity across regions and subclones.

The paper constructs a high-resolution single-cell reference atlas of the human endometrium, identifying cell types, states, and signaling networks, and links them to endometriosis.

The paper provides a user guide to five online tools for exploring and visualizing PCAWG data, demonstrating their integration with external resources to enhance cancer genomics research.

The paper assesses the value and sustainability of ELIXIR Core Data Resources, showing their critical role in preserving biological data and highlighting funding challenges.

This paper explores how to quantify the impact of public omics data by examining usage patterns and the role of FAIR principles in data discovery and reuse.

The paper updates gene annotations for 191 epilepsy genes, reclassifying variants and identifying new de novo SCN1A variants in Dravet syndrome patients.

iRAP is an RNA-seq analysis pipeline that integrates multiple tools for read mapping, expression quantification, differential expression testing, and gene set enrichment analysis, providing customizable and user-friendly workflows.