My clinical and research specialty is cardiovascular genetic counseling. I have always been interested in biology and genetics. Though I could work in a lab, my preference is to work directly with people.
Genetic counseling and testing are indicated for anyone with a personal or family history of heart disease. Genetics is an integral part of individual and family healthcare. We have the opportunity to work with entire families, from fetuses to grandparents.
With my research, I aim to answer clinical questions about the genetics of heart disease. I am also studying how patients and families perceive the genetic information they receive. Making informed decisions is essential to improved outcomes and presenting information to patients and their families in a manner they can understand is critical for decision-making.
Examples of the detailed information about medical and family history that I may ask patients or question myself include:
In my free time, I enjoy spending time with my family and exploring the outdoors. I also enjoy running and am currently learning to play tennis.
Cardiovascular Genetics, Cardiomyopathy
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Current approach to genetic testing and genetic evaluation referrals for adults with congenital heart disease. Frontiers in Genetics. 2024; 15:1398887.
Phenotypes and genotypes in a cohort of children with single-ventricle CHD. Cardiology in the Young. 2024; 34:815-821.
P476: Marfan syndrome evaluation: Improving access through an alternative care delivery model*. 2024; 2:101375.
Using deep learning and electronic health records to detect Noonan syndrome in pediatric patients. Genetics in Medicine. 2022; 24:2329-2337.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. Human Mutation. 2022; 43:1377-1395.
Retrospective comparison of parent-reported genetics knowledge, empowerment, and familial uptake of cardiac screening between parents who received genetic counseling by a certified genetic counselor and those who did not: A single US academic medical center study. Journal of Genetic Counseling. 2022; 31:965-975.
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis. Circulation: Genomic and Precision Medicine. 2022; 15:e003635.
Genetic counseling for congenital heart disease - Practice resource of the National Society of Genetic Counselors. Journal of Genetic Counseling. 2022; 31:9-33.
Uptake of Screening and Recurrence of Bicuspid Aortic Valve and Thoracic Aortic Aneurysm Among At-Risk Siblings of Pediatric Probands. The Journal of Pediatrics. 2021; 239:219-224.
Rotational Position of the Aortic Root is Associated with Increased Aortic Dimensions in Marfan and Loeys-Dietz Syndrome. Pediatric Cardiology. 2021; 42:1157-1161.