Pamela Barraza‐Flores

This study identifies unique myofiber populations in XLMTM using transcriptomics and shows they respond to therapeutic interventions across species.

The paper presents a framework for interpreting TTN missense variants by integrating clinical, computational, and functional evidence, identifying two variants as likely pathogenic.

This study identifies novel embryonic and metabolic phenotypes in SelN-deficient zebrafish and myoblasts, linking SelN function to redox and metabolic pathways.