- 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
2019
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genetics in medicine : official journal of the American College of Medical Genetics
鈥�2016
Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.
Pediatrics international : official journal of the Japan Pediatric Society
鈥�2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Human mutation
鈥�2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Genome biology
鈥�2014
The childless man.
American journal of medical genetics. Part A
鈥�