Sarah Halawa

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

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

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.

The paper describes the EHVol study, a genomic database of 391 Egyptian healthy volunteers to improve representation in global genomic databases and aid in variant interpretation for North African populations.