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(904) 244-0411

Treats Children

Pamela L Trapane, MD

Clinical Geneticist

Clinical Geneticist

4.9 /5 71 ratings
Photo of Pamela L Trapane
(904) 633-0920
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Research at a glance

Top areas of exploration

  • Mutation , 5 publications
  • Abnormalities, Multiple , 5 publications
  • Genetic Predisposition to Disease , 4 publications
  • Heterozygote , 4 publications

Research activity

24 publications

999 citations

Why is this important?

Active clinical trials

Rare Disease Registry
Investigators
Lizbeth Mellin-Sanchez, Pamela L Trapane
Status
Accepting Candidates
Ages
0 Years - 100 Years
Sexes
All

My publications

24 publications

2011

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.

Cell

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

PubMed • Publisher's site

2010

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Human mutation

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

PubMed • Publisher's site

2008

Mutation analysis of B3GALTL in Peters Plus syndrome.

American journal of medical genetics. Part A

PubMed • Publisher's site