Pamela Trapane

Professor and Chief, Division of Pediatric Genetics

University of Florida College of Medicine - Jacksonville

United States

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Articles (5)

Year:

2021

Year:

2021

Year:

2020

Year:

2020

Year:

2020

Collaborators (4)

Veronica Saletti

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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William Dobyns

Professor

University of Minnesota

UNITED STATES

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Anna CE Hurst

Associate Professor

The University of Alabama

UNITED STATES

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Silvia Esposito

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Pamela Trapane

Research Interests

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Articles (5)

Case report of a pseudo-isodicentric chromosome 9 resulting in mosaic trisomy 9

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

Genotype–phenotype correlation at codon 1740 of SETD2

Collaborators (4)

Veronica Saletti

William Dobyns

Anna CE Hurst

Silvia Esposito

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