Dongchuan Guo

Thoracic Aortic Disease in Genetic Syndromes Beyond Established Aortopathy Genes

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

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

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

MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload

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.

Loss of function variants in ADAMTS6: Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS)

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.

Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve

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.

Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications

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

Differentiation between Descending Thoracic Aortic Diseases using Machine Learning and Plasma Proteomic Signatures

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.

Genome-wide analysis yields new loci associating with aortic valve stenosis

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