Roberto Zori, M.D.

Roberto T Zori, M.D.

(352) 294-5050

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Publications

Pegvaliase for the Treatment of Phenylketonuria: Results of a Long-Term Phase 3 Clinical Trial Program (Prism)
Molecular Genetics and Metabolism
2018

Pegvaliase for the Treatment of Phenylketonuria: Results of a Long-Term Phase 3 Clinical Trial Program (Prism)
Molecular Genetics and Metabolism
2018

Maternal Phenylketonuria Syndrome: Studies in Mice Suggest a Potential Approach to a Continuing Problem
Pediatric Research
2018

Long-Term Safety and Efficacy of Pegvaliase for the Treatment of Phenylketonuria in Adults: Combined Phase 2 Outcomes Through Pal-003 Extension Study

2018

Safety and Efficacy of Glycerol Phenylbutyrate for Management of Urea Cycle Disorders in Patients Aged 2 Months to 2 Years
Molecular Genetics and Metabolism
2017

Phase 2 Studies Contribute To Ravpal-Peg Phase 3 Trial Design
Molecular Genetics and Metabolism
2015

Exome Sequencing for the Diagnosis of 46, Xy Disorders of Sex Development
The Journal of Clinical Endocrinology and Metabolism
2015

Evaluation of Multiple Dosing Regimens in Phase 2 Studies of Ravpal-Peg (Bmn 165) for Control of Blood Phenylalanine Levels in Adults With Phenylketonuria
Molecular Genetics and Metabolism
2015

Evaluation of Long-Term Safety and Efficacy With Ravpal-Peg (Bmn 165) for Control of Blood Phenylalanine Levels in Adults With Phenylketonuria (Pku)
Molecular Genetics and Metabolism
2015

Evaluation of An Induction, Titration, and Maintenance Dosing Regimen in a Phase 2 Study of Ravpal-Peg (Bmn 165) for Control of Blood Phenylalanine Levels in Adults With Phenylketonuria (Pku)
Molecular Genetics and Metabolism
2015

Blood Ammonia and Glutamine As Predictors of Hyperammonemic Crises in Patients With Urea Cycle Disorder

2015

Usp7 Protects Genomic Stability By Regulating Bub3
Oncotarget
2014

Ammonia Control and Neurocognitive Outcome Among Urea Cycle Disorder Patients Treated With Glycerol Phenylbutyrate
Hepatology
2013

Urinary Phenylacetylglutamine as Dosing Biomarker for Patients With Urea Cycle Disorders
Molecular Genetics and Metabolism
2012

Mosaic 7Q31 Deletion Involving Foxp2 Gene Associated With Language Impairment
Pediatrics
2012

A New Case of Pure Partial 7Q Duplication
Cytogenetic and Genome Research
2012

16Q22.1 Microdeletion Detected By Array-Cgh in a Family With Mental Retardation and Lobular Breast Cancer
Gene
2012

Genotype-Phenotype Analysis of the Branchio-Oculo-Facial Syndrome
American Journal of Medical Genetics Part a
2011

Facial Dysmorphism and Digit Anomalies in Three Siblings With Severe Developmental Delay
Clinical Dysmorphology
2011

Array-Cgh Characterization of a Prenatally Detected De Novo 46,X,Der(Y)T(X;Y)(P22.3;Q11.2) in a Male Fetus
European Journal of Medical Genetics
2011

Molecular Cytogenetic Characterization of Two Small Supernumerary Marker Chromosomes Derived From Chromosome 19
American Journal of Medical Genetics Part a
2009

Long-Term Disease Control of Refractory Anaplastic Large Cell Lymphoma With Vinblastine
Journal of Pediatric Hematology/Oncology
2009

Chromosome 8P23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia
American Journal of Medical Genetics Part a
2009

Aldehyde Dehydrogenase Activity as a Functional Marker for Lung Cancer
Chemico-Biological Interactions
2009

The Detection of Bone Marrow Hematogones By Multiparameteric Flow Cytometric Analysis in Myelodysplastic Syndromes Predicts the Presence of Del 5Q
American Journal of Clinical Pathology
2008

Tfap2a Mutations Result in Branchio-Oculo-Facial Syndrome

2008

Telegenetic medicine: improved access to services in an underserved area.
Journal of Telemedicine and Telecare
2006

High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome.
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics
2006

Blood lymphocyte chimerism associated with IVF and monochorionic dizygous twinning: case report.

2004

Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype.
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics
2003

A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX.
Clinical Genetics
2001

Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.
American Journal of Medical Genetics
1998

Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
American Journal of Medical Genetics
1998

Research Interests

In addition to his chief and other directorship duties, he is interested in clinical syndromes, especially neurogenetic syndromes. He is a consultant to the craniofacial clinic for clinical genetics diagnostic and counseling issues.