Dianna M. Milewicz

This study examines how disease-associated MYH11 variants affect SMII filament dynamics and VSMC mechanics through live-cell imaging, revealing distinct functional impacts of K1256del and A1839V variants.

The paper identifies de novo pathogenic variants in syndromic genes associated with thoracic aortic disease beyond established aortopathy genes.

This study identifies STING-IRF3-mediated epigenetic programming of macrophages as a driver of inflammation in aortic dissection, showing its role in pro-inflammatory bias and therapeutic potential.

Genome sequencing identifies pseudoexons as a common cause of Mendelian disease, with some variants missed by prior exome testing.

This study investigates the effect of a rare MYH11 variant in mice, finding it does not cause aortic disease but leads to cardiac hypertrophy and heart failure under pressure overload.

The paper identifies loss-of-function variants in ADAMTS6 in patients with vascular and neurodevelopmental disorders, linking them to connective tissue defects and proposing a new syndrome called CHANS.

The paper develops an AI facial analysis model to diagnose vascular Ehlers-Danlos syndrome (vEDS) using facial images, achieving high accuracy in distinguishing vEDS from controls and hypermobile EDS.

The paper identifies rare genomic copy number variants (CNVs) in early-onset bicuspid aortic valve (EBAV) cases, implicating new candidate genes like GATA4 and DSCAM in BAV pathogenesis.

The paper uses whole exome sequencing to identify rare genetic variants associated with early onset complications of Bicuspid Aortic Valve in families.

This paper uses machine learning to differentiate between descending thoracic aortic diseases using plasma proteomic data, identifying key proteins and pathways associated with each condition.

The paper identifies 21 candidate haploinsufficient genes associated with congenital heart disease through integrative analysis of CNVs and DNMs in CHD cases and controls.

This study identifies two new genetic loci associated with aortic valve stenosis through a large genome-wide association study.

The paper identifies a mutation in LMOD1 associated with thoracic aortic aneurysms and dissections in a British family and validates its pathogenicity using zebrafish models.