Area of research
Genetics · Public Health, Environmental and Occupational Health
Research interest
Research interests include Genomics and Rare Diseases, Genetic Associations and Epidemiology, Ethics in Clinical Research, and BRCA gene mutations in cancer.
Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes
A systematic review of dissemination and implementation science capacity building programs around the globe
A citation analysis and scoping systematic review of the operationalization of the Practical, Robust Implementation and Sustainability Model (PRISM)
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Newborn Sequencing in Genomic Medicine and Public Health