https://orcid.org/0000-0003-4924-9010
Current Duke Appointments & Affiliations
Associate Professor of Pathology
·
2021 - Present
Pathology,
Clinical Science Departments
Recent Scholarly Works
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.
Journal article J Bone Miner Res · March 2, 2026 Hypophosphatasia (HPP) is the rare metabolic disorder caused by variants in the ALPL gene, resulting in deficient activity of tissue-nonspecific alkaline phosphatase (ALP). This leads to accumulation of substrates contributing to impaired bone mineralizati ... Full text Open Access Link to item CiteCell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX.
Journal article Genet Med Open · 2026 PURPOSE: Delayed diagnosis of Mendelian disease prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is functional interpretation of noncoding variants that alter splicing. Here, we aimed to be ... Full text Link to item CiteRevisiting the Genetics of Hypophosphatasia.
Journal article J Inherit Metab Dis · November 2025 Hypophosphatasia (HPP) is a rare, inherited monogenic disorder that is typically caused by variants in the tissue-nonspecific alkaline phosphatase (ALPL) gene. Genetic testing for ALPL variant(s) to confirm the diagnosis in patients with suspected HPP is a ... Full text Open Access Link to item CiteRecent Grants
Developing strategies to identify candidate individuals for early genetic therapies
ResearchCollaborator · Awarded by Eunice Kennedy Shriver National Institute of Child Health and Human Development · 2024 - 2029Functional characterization of Pompe disease variants of uncertain significance (VUS)
ResearchCo Investigator · Awarded by Amicus Therapeutics Corporation · 2026 - 2029COG Senior Cytogenetics Reviewer
ResearchPrincipal Investigator · Awarded by Public Health Institute · 2025 - 2026View All Grants
Education
Virginia Commonwealth University ·
2004
Ph.D.
North Carolina State University ·
1999
B.A.