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

Clinical Profile

Specialties

Genetics

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.16(sup1):39-54[DOI] 10.1080/17474086.2023.2171983.[PMID] .

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.

11 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.

53 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.

4 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

2016

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Human mutation.37(7):653-60[DOI] 10.1002/humu.22983.[PMID] 26931382.

26 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.

6 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.

79 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.

25 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.

310 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.

97 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.

84 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.

40 citations·PubMed·Publisher's Site

2009

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Human genetics.126(2):342-[DOI] .[PMID] 19694026.

PubMed·Publisher's Site

2009

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Human genetics.126(2):341-[DOI] .[PMID] 19694025.

PubMed·Publisher's Site

2008

Mutation analysis of B3GALTL in Peters Plus syndrome.