Jordi Díaz‐Manera

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

This study uses single nuclei RNA sequencing to analyze DMD muscle samples and identifies clinical-genetic correlations by comparing gene expression profiles across cell populations.

This study shows PDGF-AA activates the RhoA/ROCK2 pathway in DMD fibro-adipogenic progenitor cells, leading to fibrosis, and that blocking this pathway improves muscle function in a mouse model.