- 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
2021
Case report of a pseudo-isodicentric chromosome 9 resulting in mosaic trisomy 9.
Clinical case reports
鈥�2021
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
European journal of human genetics : EJHG
鈥�2020
Genotype-phenotype correlation at codon 1740 of SETD2.
American journal of medical genetics. Part A
鈥�2020
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Human mutation
鈥�2019
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.
American journal of medical genetics. Part A
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