Area of research
Genetics · Public Health, Environmental and Occupational Health
Research interest
Research interests include Genomics and Rare Diseases, BRCA gene mutations in cancer, Ethics in Clinical Research, and Genetic Associations and Epidemiology.
Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
Examining the Cascade of Participant Attrition in a Genomic Medicine Research Study: Barriers and Facilitators to Achieving Diversity
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Effect of genetic testing for risk of type 2 diabetes mellitus on health behaviors and outcomes: study rationale, development and design