Cynthia A. James

This study shows cardiovascular genetic counseling improves patient empowerment and reduces worry, with benefits varying by patient characteristics and the strength of the counselor-patient relationship.

This study shows that DSP mutations in cardiac fibroblasts enhance TGFβ1-induced fibrosis by disrupting beclin-1 regulation and autophagy, leading to excessive collagen accumulation and fibrotic gene activation.

This study assesses Medicaid coverage policies for genetic counseling across U.S. states and finds significant variability in coverage, with some states fully reimbursing services while others exclude genetic counselors.

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.

This study shows that genetic counseling educational videos improve access to genetic testing and counseling for inpatients with cardiovascular disease by increasing consult volumes and patient decision-making confidence.

This study shows that tailored online video education before genetic counseling increases genetic test uptake and informed decision-making for cardiovascular genetic testing.

The paper evaluates the clinical validity of heterozygous ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy, finding strong gene-disease association with reduced penetrance.

The paper structures evidence on inheritance, allelic requirement, and variant classes for inherited cardiac conditions to improve variant filtering in genomic testing.

The paper identifies FLNC loss-of-function variants in a clinical population and finds they are associated with increased odds of arrhythmogenic cardiomyopathy phenotypes.

The paper curates and classifies genetic evidence for dilated cardiomyopathy (DCM), identifying 19 genes with strong or moderate evidence and highlighting gaps in understanding.

This study surveys healthcare professionals on postmortem genetic testing practices for sudden cardiac death in young individuals, finding inconsistent access and variability in attitudes across regions.