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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 , 12 publications

Research activity

105 publications

3,821 citations

Why is this important?

Active clinical trials

JNT517-301

The goal of this Phase 3, randomized study is to assess the safety, efficacy, tolerability, and pharmacokinetics (PK) of oral JNT-517 in adults (18 years of age or older) with PKU. Participants will receive either JNT-517 or placebo and will be…

Investigator
Roberto T Zori
Status
Accepting Candidates
Ages
18 Years - N/A
Sexes
All

My publications

Filter publications

105 publications

2026

Biomarkers and surrogate endpoints for drug development in propionic acidemia.

Molecular genetics and metabolism

PubMed • Publisher's site

2026

Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation.

Orphanet journal of rare diseases

PubMed • Publisher's site

2026

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.

Genetics in medicine : official journal of the American College of Medical Genetics

PubMed • Publisher's site

2026

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.

Journal of inherited metabolic disease

PubMed • Publisher's site

2024

Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.

Lancet (London, England)

PubMed • Publisher's site