Pamela L. Trapane, M.D.

Pamela L. Trapane M.D.

Professor & Chief, Division of Pediatric Genetics

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

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
  • Genetics

Clinical Profile

Specialties
  • Genetics

Publications

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.
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.
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.
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.
2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Human mutation.37(7):653-60[DOI] 10.1002/humu.22983.[PMID] 26931382.
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.
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.
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.
2014
The childless man.
American journal of medical genetics. Part A.164A(2):561-[DOI] 10.1002/ajmg.a.36290.[PMID] 24311465.
2012
A rare presentation of neonatal stridor.
Clinical pediatrics.51(3):294-6[DOI] 10.1177/0009922811398393.[PMID] 21339253.
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.
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.
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.
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.
2009
Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.
Human genetics.126(2):342-[DOI] .[PMID] 19694026.
2009
Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.
Human genetics.126(2):341-[DOI] .[PMID] 19694025.
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.
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.
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.

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 Pariso
(904) 427-7117
erin.pariso@jax.ufl.edu

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