Beth A. Kozel

Phenotypic Findings Associated with Variation in Elastin

The paper investigates the phenotypic effects of ELN gene variants using exome data and phenotyping, finding associations with connective tissue disorders beyond known conditions.

Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping

The paper develops polygenic risk scores for surgical supravalvar aortic stenosis using variants from Williams syndrome patients, achieving high AUC and low misclassification rates.

Evaluating ChatGPT as an Agent for Providing Genetic Education

This study evaluates ChatGPT's ability to answer questions about genetic disorders, finding it provides accurate information but has limitations in understanding inheritance patterns.

Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndrome

The paper identifies novel non-synonymous variants associated with extreme vascular outcomes in Williams-Beuren syndrome through whole-genome sequencing and pathway analysis.

Cardiac pathologies in mouse loss of imprinting models are due to misexpression of H19 long noncoding RNA

The paper shows that maternal loss of imprinting at the H19/IGF2 locus causes cardiac pathologies in mice, with Igf2 driving transient hypertrophy and H19 causing progressive fibrosis and reduced ventricular function.