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(352) 294-5050

Roberto T Zori, MD

Pediatric Medical Geneticist, Pediatrician (Kids / Children Specialist)

Photo of Roberto T Zori
(352) 294-5050 MyUFHealth

Research at a glance

Top areas of exploration

  • Chromosome Deletion , 14 publications
  • Intellectual Disability , 13 publications
  • Syndrome , 13 publications
  • Phenotype , 11 publications

Research activity

101 publications

3,486 citations

Why is this important?

Active clinical trials

DFI17545

This is a single group Phase 1/Phase 2, 1-arm, open-label study with SAR444836, an adeno-associated virus (AAV) vector-mediated gene transfer of human phenylalanine hydroxylase (PAH), for the treatment of adult participants with phenylketonuria鈥�

Investigator
Roberto T Zori
Status
Accepting Candidates
Ages
18 Years - 65 Years
Sexes
All
DTX301-CL301
Investigator
Roberto T Zori
Status
Accepting Candidates
JNT-517

The goal of Parts A and B of this Phase 1, first-in-human, randomized study is to assess the safety, tolerability, and pharmacokinetics (PK) of single (SAD) and multiple (MAD) ascending doses of oral JNT-517 in healthy participants. In Part C, the鈥�

Investigator
Roberto T Zori
Status
Accepting Candidates
Ages
18 Years - 65 Years
Sexes
All

My publications

101 publications

2021

Bilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

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2021

Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.

Journal of inherited metabolic disease

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2021

Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2聽months of age with urea cycle disorders.

Molecular genetics and metabolism

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2021

Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria.

Clinical and translational science

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2020

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.

Human molecular genetics

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