- Investigators
- Lizbeth Mellin-Sanchez, Pamela L Trapane
- Status
- Accepting Candidates
- Ages
- 0 Years - 100 Years
- Sexes
- All
Treats Children
Pamela L Trapane, MD
Clinical Geneticist
Pamela L Trapane, MD
(904) 633-0920
Request appointment online
Research at a glance
Top areas of exploration
- Mutation , 5 publications
- Abnormalities, Multiple , 5 publications
- Intellectual Disability , 4 publications
- Genetic Predisposition to Disease , 4 publications
Research activity
Active clinical trials
- Investigators
- Lizbeth Mellin-Sanchez, Pamela L Trapane
- Status
- Accepting Candidates
- Ages
- 0 Years - 100 Years
- Sexes
- All
My publications
Filter publications
25 publications
2025
Reconciling competencies in undergraduate medical genetics education: APHMG versus PCME competencies.
Genetics in medicine : official journal of the American College of Medical Genetics
鈥�2024
Brain malformations and seizures by impaired chaperonin function of TRiC.
Science (New York, N.Y.)
鈥�2023
Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for mucocutaneous bleeding disorders.
Expert review of hematology
鈥�2022
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Molecular genetics and metabolism reports
鈥�2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
American journal of human genetics
鈥�