Area of research
Emergency Medical Services · Genetics
Research interest
Research interests include Global Health Workforce Issues, Genomics and Rare Diseases, Criminal Justice and Corrections Analysis, and Homelessness and Social Issues.
Whole-genome sequencing of patients with rare diseases in a national health system
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes