https://orcid.org/0000-0002-8819-8992
Current Appointments & Affiliations
Associate Professor of Pathology
·
2022 - Present
Pathology,
Clinical Science Departments
Associate Professor of Pediatrics
·
2025 - Present
Pediatrics, Medical Genetics,
Pediatrics
Recent Publications
Intracranial mesenchymal tumor, FET::CREB fusion-positive: An integrative analysis of 81 cases.
Journal Article Neuro Oncol · April 1, 2026 BACKGROUND: Intracranial mesenchymal tumors, FET::CREB fusion-positive (ICMT), show fusions involving FET RNA-binding protein family genes (EWSR1 or FUS) and CREB family of transcription factors (ATF1, CREB1, or CREM). The methylation signature(s), gene ex ... Full text Link to item CitePlasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease.
Journal Article EBioMedicine · January 2026 BACKGROUND: Pompe disease (PD), caused by acid α-glucosidase (GAA) deficiency, leads to glycogen accumulation in various tissues including the central nervous system. While enzyme replacement therapy (ERT) is lifesaving, it does not cross the blood-brain b ... Full text Link to item CiteAuthor Correction: PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.
Journal Article NPJ Genom Med · December 30, 2025 Full text Link to item CiteRecent Grants
Investigating the Central Nervous System Involvement in Pompe Disease to Facilitate Targeted Treatment Strategies and Improve Patient Management
ResearchCollaborator · Awarded by Acid Maltase Deficiency Association · 2025 - 2027Assessment of GYS1 knockdown on Pompe disease
ResearchCollaborator · Awarded by Alnylam U.S., Inc. · 2025 - 2026View All Grants
Education
University of Kansas, School of Medicine ·
2010
MD./PhD.