Ahmed Moustafa

Transcriptomic signature of Human Cardiac Fibroblast in Hypertrophic Obstructive Cardiomyopathy

This study identifies a distinct transcriptomic signature in HOCM cardiac fibroblasts, highlighting inflammatory signaling, ECM remodeling, and altered cell-matrix communication.

EGP1K: Whole-Genome Sequencing of 1,024 Egyptians Characterizes Population Structure and Genetic Diversity

EGP1K sequenced 1,024 Egyptians to characterize genetic diversity and population structure, revealing distinct ancestry components and highlighting issues with European-derived polygenic risk score thresholds.

Profiling Genome-Wide DNA Methylation Patterns in Human Aortic and Mitral Valves

The paper profiles DNA methylation patterns in non-diseased human aortic and mitral valves, identifying differentially methylated promoters linked to valvular biology and disease.

Analysis of HCM in an understudied population reveals a new mechanism of pathogenicity

The paper identifies a frameshift variant in MYH7 associated with HCM in an Egyptian cohort, revealing a new pathogenic mechanism involving distal PTC escape from NMD.

Comparative Transcriptomics Identifies Potential Stemness-Related Markers for Mesenchymal Stromal/Stem Cells

This study identifies six proteasome degradation system genes as potential stemness markers for MSCs across multiple tissue sources using comparative transcriptomics and predictive models.