BA, Political Science and Governme
Bucknell University, 2006
Certifications
PHY
GA Professional Licensing BRD, 2022
Courses Taught Most Recent Academic Year
RPED 5002
Pediatrics General
Scholarship
Selected Recent Publications
A novel case of homozygous PAX1 mutation associated with hypoparathyroidism. , 2022 Journal Article, Professional Journal
Chance discovery of genome-wide paternal uniparental disomy in an asymptomatic 53-year-old woman undergoing cancer risk genetic screening. , 2022 Journal Article, Professional Journal
Identification of a novel form of dominant optic atrophy using an automated pipeline for reanalysis of exome sequencing. , 2022 Journal Article, Professional Journal
Mucopolysaccharidosis Type 1: Case Report of an Attenuated Presentation. , 2022 Journal Article, Professional Journal
Noonan Syndrome-Like Disorder with Loose Anagen Hair 2: Case of the oldest reported individual to date with de novo PPP1CB variant. , 2022 Journal Article, Professional Journal
