- Investigators
- Lizbeth Mellin-Sanchez, Pamela L Trapane
- Status
- Accepting Candidates
- Ages
- 4 Years - 100 Years
- Sexes
- All
Research at a glance
Top areas of exploration
- Abnormalities, Multiple , 5 publications
- Mutation , 5 publications
- Genetic Predisposition to Disease , 4 publications
- Heterozygote , 4 publications
Research activity
Active clinical trials
- Investigators
- Lizbeth Mellin-Sanchez, Pamela L Trapane
- Status
- Accepting Candidates
- Ages
- 0 Years - 100 Years
- Sexes
- All
- Investigators
- Lizbeth Mellin-Sanchez, Pamela L Trapane
- Status
- Accepting Candidates
- Ages
- 0 Years - 100 Years
- Sexes
- All
My publications
Filter publications
24 publications
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
PubMed • Publisher's site2022
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Molecular genetics and metabolism reports
PubMed • Publisher's site2021
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
European journal of human genetics : EJHG
PubMed • Publisher's site2021
Case report of a pseudo-isodicentric chromosome 9 resulting in mosaic trisomy 9.
Clinical case reports
PubMed • Publisher's site2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
American journal of human genetics
PubMed • Publisher's site