Current Appointments & Affiliations
Associate Professor of Pathology
·
2022 - Present
Pathology,
Clinical Science Departments
Recent Publications
Intracranial mesenchymal tumor, FET::CREB fusion-positive: an integrative analysis of 81 cases.
Journal Article Neuro Oncol · January 22, 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 exp ... Full text Link to item CiteUnexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic Testing
Journal Article Neurohospitalist · January 1, 2026 Late-onset Pompe disease is a rare autosomal recessive lysosomal storage disorder caused by acid α-glucosidase deficiency, resulting in progressive skeletal muscle weakness and respiratory failure. We present the case of a 43-year-old African American woma ... Full text 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 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, Training & Certifications
University of Kansas, School of Medicine ·
2010
MD./PhD.