Calum A. MacRae

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

The paper investigates E-rich domain variants of RBM20, showing they reduce protein abundance and cause splicing defects, but are not rescued by RBM20 overexpression.

The paper develops a multidimensional assay to assess variant effects in MYBPC3, reclassifying variants and uncovering disease mechanisms in hypertrophic cardiomyopathy.

This study shows that hemodynamic forces activate YAP signaling via Piezo1 in hemogenic endothelium, promoting HSC production by regulating metabolic and gene regulatory programs, while TAZ overactivation disrupts this balance.

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

This study shows PRKAG2 variants cause cardiac hypertrophy and electrical changes in zebrafish, independent of glycogen storage, through AMPKγ2-myosin interactions.

This study shows Prdm16 enhances Notch signaling in arterial endothelial cells and suppresses venous fate to prevent arteriovenous malformations in zebrafish and human cells.

The paper maps the functional landscape of KCNQ1 variants to identify pathogenic and benign variants, revealing their impact on arrhythmia risk and ion channel mechanisms.

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

This study shows that COX-2 deletion or inhibition leads to heart failure with preserved ejection fraction in zebrafish, mice, and humans.

The paper uses single-nuclei RNA-seq and spatial transcriptomics to analyze gene expression changes in the right atrium of patients with ischemic heart disease, revealing inflammatory microvascular dysfunction and altered tissue composition.

This study identifies RBPMS2 as a conserved regulator of alternative splicing that supports myofibril organization and calcium handling in cardiomyocytes across species.

The paper identifies fragile physiological dynamics of ion channel kinetics associated with genomic determinants of arrhythmias and validates this relationship using RNA sequencing.