Matthew Demczko
Education and Fellowship Director, Mitochondrial Medicine, Division of Human Genetics · Children's Hospital of Philadelphia
Credentials: · · · · ·
History
- Present
Education and, Mitochondrial Medicine, Division of Human Genetics Fellowship · Children's Hospital of Philadelphia
- Present
Mitochondrial Medicine Frontier Program · Children's Hospital of Philadelphia
Research
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function
Blood · 2021 · 81 citations
Flexion-extension cervical spine MRI in children with skeletal dysplasia: is it safe and effective?
Journal of Pediatric Orthopaedics · 2013 · 33 citations
Human Molecular Genetics · 2019 · 27 citations
3 papers
- PW
3 papers · 3 as a fellow
3 papers
3 papers · 2 as a resident
2 papers
2 papers
1 paper · 1 as a fellow
1 paper
Clinical trials
- 2025–2027
Principal investigator · Enrolling by invitation · Phase 2
Matthew Demczko