Area of research
Genetics · Public Health, Environmental and Occupational Health
Research interest
Research focused on Genomics and Medical genetics, with related work in Exome sequencing, Context (archaeology), Engineering ethics. Notable publications include 'ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)', 'Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between', and 'Genomic diagnosis for children with intellectual disability and/or developmental delay'.
Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing
Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
The Parent PrU: A measure to assess personal utility of pediatric genomic results
Addressing underrepresentation in genomics research through community engagement
Newborn screening for neurodevelopmental diseases: Are we there yet?
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing
Genome sequencing as a first-line diagnostic test for hospitalized infants
Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development
Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium
The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child’s Best Possible Life
Fostering Responsible Research on Ancient DNA
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results
Rethinking the “open future” argument against predictive genetic testing of children
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
Systematic reanalysis of genomic data improves quality of variant interpretation
Genomic sequencing identifies secondary findings in a cohort of parent study participants
Genomic diagnosis for children with intellectual disability and/or developmental delay
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results
Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between
Ethical, legal, and social implications of incorporating genomic information into electronic health records
Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network