https://orcid.org/0000-0003-4924-9010
Current Appointments & Affiliations
Associate Professor of Pathology
·
2021 - Present
Pathology,
Clinical Science Departments
Recent Publications
Cell 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 CiteThe CAP/ACMG CYCGH proficiency testing program: 10 years in review.
Journal Article Genet Med · July 2025 PURPOSE: The College of American Pathologists has offered proficiency testing (PT) for the detection of copy-number variations (CNV) in the constitutional setting (CYCGH) since 2008. We review and summarize data from the CYCGH PT program, including partici ... Full text Link to item CiteThe ALPL gene variant project: results of the first 100 reclassified variants.
Journal Article JBMR Plus · June 2025 Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization, among other body systems. HPP is caused by pathogenic variants in the alkaline phosphatase-liver (ALPL) gene, which encodes tissue nonspecific alkaline phosphatase. ... Full text 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 - 2029COG Senior Cytogenetics Reviewer
ResearchPrincipal Investigator · Awarded by Public Health Institute · 2025 - 2026COG Senior Cytogenetics Reviewer
ResearchPrincipal Investigator · Awarded by Public Health Institute · 2024 - 2025View All Grants
Education
Virginia Commonwealth University ·
2004
Ph.D.
North Carolina State University ·
1999
B.A.