Pamela L. Trapane, M.D.

Pamela L. Trapane M.D.

Professor & Associate Chair, Faculty Development; Chief, Division of Pediatric Genetics

Department: Department of Pediatrics
Business Phone: (904) 427-7117
Business Email: Pamela.trapane@jax.ufl.edu
Appointments and Locations

About Pamela L. Trapane

Pamela Trapane, MD, MME, has more than 20 years of experience in pediatric genetics. She earned her medical degree from the University of Texas Health Science Center San Antonio and completed her residency and fellowship at the University of Texas Health Science Center Houston.

Dr. Trapane is a member of the Clinical Care Advisory Board for the Children’s Tumor Foundation and the Council on Genetics Executive Committee of the American Academy of Pediatrics.

Her clinical interests include neurocutaneous disorders, connective tissue disorders, and general genetics.

When she’s not working, Dr. Trapane enjoys photography, outdoor activities, such as hiking and kayaking, and traveling, especially spending time with her children and grandchildren.

Board Certifications

  • Pediatrics

Clinical Profile

Specialties
  • Genetics

Publications

2024
Brain malformations and seizures by impaired chaperonin function of TRiC.
Science (New York, N.Y.).386(6721):516-525[DOI] 10.1126/science.adp8721.[PMID] 39480921.
0 citations·PubMed·Publisher's Site
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.16(sup1):39-54[DOI] 10.1080/17474086.2023.2171983.[PMID] 36920856.
10 citations·PubMed·Publisher's Site
2022
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Molecular genetics and metabolism reports.33():100931-[DOI] 10.1016/j.ymgmr.2022.100931.[PMID] 36420423.
6 citations·PubMed·Publisher's Site
2021
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
European journal of human genetics : EJHG.29(2):271-279[DOI] 10.1038/s41431-020-00717-5.[PMID] 32901138.
8 citations·PubMed·Publisher's Site
2021
Case report of a pseudo-isodicentric chromosome 9 resulting in mosaic trisomy 9.
Clinical case reports.9(4):2340-2344[DOI] 10.1002/ccr3.4031.[PMID] 33936691.
2 citations·PubMed·Publisher's Site
2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
American journal of human genetics.108(9):1669-1691[DOI] 10.1016/j.ajhg.2021.06.019.[PMID] 34314705.
22 citations·PubMed·Publisher's Site
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.41(1):299-315[DOI] 10.1002/humu.23929.[PMID] 31595648.
75 citations·PubMed·Publisher's Site
2020
Genotype-phenotype correlation at codon 1740 of SETD2.
American journal of medical genetics. Part A.182(9):2037-2048[DOI] 10.1002/ajmg.a.61724.[PMID] 32710489.
11 citations·PubMed·Publisher's Site
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.179(11):2272-2276[DOI] 10.1002/ajmg.a.61338.[PMID] 31436901.
1 citations·PubMed·Publisher's Site
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.21(4):867-876[DOI] 10.1038/s41436-018-0269-0.[PMID] 30190611.
59 citations·PubMed·Publisher's Site
2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Human mutation.37(7):653-60[DOI] 10.1002/humu.22983.[PMID] 26931382.
36 citations·PubMed·Publisher's Site
2016
Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.
Pediatrics international : official journal of the Japan Pediatric Society.58(8):785-8[DOI] 10.1111/ped.12988.[PMID] 27325525.
8 citations·PubMed·Publisher's Site
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.15(3):R53-[DOI] 10.1186/gb-2014-15-3-r53.[PMID] 24667040.
82 citations·PubMed·Publisher's Site
2014
Cognitive and psychosocial phenotype of young children with neurofibromatosis-1.
Journal of the International Neuropsychological Society : JINS.20(1):88-98[DOI] 10.1017/S1355617713001227.[PMID] 24229851.
27 citations·PubMed·Publisher's Site
2014
The childless man.
American journal of medical genetics. Part A.164A(2):561-[DOI] 10.1002/ajmg.a.36290.[PMID] 24311465.
PubMed·Publisher's Site
2012
A rare presentation of neonatal stridor.
Clinical pediatrics.51(3):294-6[DOI] 10.1177/0009922811398393.[PMID] 21339253.
2 citations·PubMed·Publisher's Site
2011
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell.146(6):889-903[DOI] 10.1016/j.cell.2011.07.042.[PMID] 21925314.
329 citations·PubMed·Publisher's Site
2010
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
European journal of human genetics : EJHG.18(8):895-901[DOI] 10.1038/ejhg.2010.45.[PMID] 20389311.
100 citations·PubMed·Publisher's Site
2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Human mutation.31(10):1142-54[DOI] 10.1002/humu.21328.[PMID] 20672375.
86 citations·PubMed·Publisher's Site
2009
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.
Journal of medical genetics.46(9):626-34[DOI] 10.1136/jmg.2008.062471.[PMID] 19052029.
43 citations·PubMed·Publisher's Site
2008
Mutation analysis of B3GALTL in Peters Plus syndrome.
American journal of medical genetics. Part A.146A(20):2603-10[DOI] 10.1002/ajmg.a.32498.[PMID] 18798333.
44 citations·PubMed·Publisher's Site
2008
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.
American journal of medical genetics. Part A.146A(22):2885-90[DOI] 10.1002/ajmg.a.32527.[PMID] 18925679.
23 citations·PubMed·Publisher's Site
2007
A carrier of both MEN1 and BRCA2 mutations: case report and review of the literature.
Cancer genetics and cytogenetics.179(2):89-92[DOI] .[PMID] 18036394.
11 citations·PubMed·Publisher's Site
2003
Deletion 12q: a second patient with 12q24.31q24.32 deletion.
American journal of medical genetics. Part A.118A(4):350-2[DOI] .[PMID] 12687666.
14 citations·PubMed·Publisher's Site
2002
Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature.
American journal of medical genetics.111(1):71-5[DOI] .[PMID] 12124739.
12 citations·PubMed·Publisher's Site

Office Information

Academic Office
Aetna Building, Suite 1900
841 Prudential Drive
Jacksonville, FL 32207
(904) 427-7117
 Pamela.trapane@jax.ufl.edu
Executive Assistant
 Erin Berk
(904) 427-7117
erin.berk2@jax.ufl.edu

Clinical Research

OPEN ENROLLMENT
Biobank for Potential or Known Genetic Diseases
OPEN ENROLLMENT
Rare Disease Registry
OPEN ENROLLMENT
Open-label Study of the Safety, Pharmacokinetics, Efficacy, Pharmacodynamics, Immunogenicity of Cipaglucosidase Alfa/miglustat in Pediatrics < 18 Yrs with Lopd Pompe Disease
Phase 3, Double blind, Randomized, Placebo controlled, Multicenter Study for the Safety, Tolerability, Efficacy of Trappsol® Cyclo™ vs. Placebo in Niemann Pick Disease

Education

Medical Degree
1996 · University of Texas Health Science Center at San Antonio, San Antonio, TX, USA
Pediatrics Residency
1999 · University of Texas Medical School At Houston, Houston, TX, USA
Genetics Fellowship
2001 · University of Texas Medical School At Houston, Houston, TX, USA