Roberto Zori, M.D.

Roberto T Zori, M.D.

(352) 294-5050

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Publications

Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Molecular genetics and metabolism
2021

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Human molecular genetics
2020

Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
Journal of inherited metabolic disease
2020

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
Molecular genetics and metabolism
2019

Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.
Molecular genetics and metabolism
2019

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.
Genetics in medicine : official journal of the American College of Medical Genetics
2019

Depletion of interfering IgG and IgM is critical to determine the role of IgE in pegvaliase-associated hypersensitivity.
Journal of immunological methods
2019

A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: A study of patients' preferences.
Molecular genetics and metabolism reports
2019

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
American journal of medical genetics. Part A
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.
Orphanet journal of rare diseases
2018

Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria.
Molecular genetics and metabolism
2018

A pathogenic role for germline PTEN variants which accumulate into the nucleus.
European journal of human genetics : EJHG
2018

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Nature genetics
2017

Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
Brain : a journal of neurology
2017

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.
Molecular genetics and metabolism
2015

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 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.
Genetics in medicine : official journal of the American College of Medical Genetics
2015

A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1.
Ophthalmic genetics
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 (Baltimore, Md.)
2013

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.
Molecular genetics and metabolism
2012

Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?
International journal of pediatric endocrinology
2012

Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment.
Pediatrics
2012

Enhanced interpretation of newborn screening results without analyte cutoff values.
Genetics in medicine : official journal of the American College of Medical Genetics
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

Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet.
Journal of inherited metabolic disease
2009

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.
American journal of human genetics
2008

In vivo expression of human ATP:cob(I)alamin adenosyltransferase (ATR) using recombinant adeno-associated virus (rAAV) serotypes 2 and 8.
The journal of gene medicine
2007

Chromosome painting in the manatee supports Afrotheria and Paenungulata.
BMC evolutionary biology
2007

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

Lupus-like disease and high interferon levels corresponding to trisomy of the type I interferon cluster on chromosome 9p.
Arthritis and rheumatism
2006

High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome.
American journal of medical genetics. Part A
2006

G-banded karyotype and ideogram for the North Atlantic right whale (Eubalaena glacialis).
The Journal of heredity
2006

Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.
American journal of human genetics
2005

Diagnosis of an early precursor-B-ALL presenting with hypereosinophilia using FISH on immunomagnetically selected CD19+ cells.
Clinical advances in hematology & oncology : H&O
2005

Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals.
American journal of medical genetics. Part A
2004

Locus control region elements HS2 and HS3 in combination with chromatin boundaries confer high-level expression of a human beta-globin transgene in a centromeric region.
Genes to cells : devoted to molecular & cellular mechanisms
2004

Blood lymphocyte chimerism associated with IVF and monochorionic dizygous twinning: case report.
Human reproduction (Oxford, England)
2004

A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones.
The Journal of pediatrics
2004

Translocation (X;20)(q13.1;q13.3) as a primary chromosomal finding in two patients with myelocytic disorders.
Cancer genetics and cytogenetics
2003

Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders.
American journal of medical genetics. Part A
2003

Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype.
American journal of medical genetics. Part A
2003

Genetic insights into familial cancers-- update and recent discoveries.
Cancer letters
2002

Prolonged neuromuscular block in a patient undergoing renal transplantation.
Journal of clinical anesthesia
2001

Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects.
American journal of medical genetics
2001

Distinct phenotypes distinguish the molecular classes of Angelman syndrome.
Journal of medical genetics
2001

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

A family with a grand-maternally derived interstitial duplication of proximal 15q.
Clinical genetics
2001

Culture of cytogenetically abnormal schwann cells from benign and malignant NF1 tumors.
Genes, chromosomes & cancer
2000

Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23.
Genomics
1999

Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.
American journal of medical genetics
1998

Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome.
American journal of medical genetics
1998

Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.
American journal of medical genetics
1998

In vitro selection for K562 cells with higher retrovirally mediated copy number of aldehyde dehydrogenase class-1 and higher resistance to 4-hydroperoxycyclophosphamide.
Human gene therapy
1998

Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
American journal of medical genetics
1998

Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.
Human mutation
1998

Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: a new syndrome?
American journal of medical genetics
1997

NF1 mutation analysis using a combined heteroduplex/SSCP approach.
Human mutation
1997

Fluorescence in situ hybridization assessment of the telomeric regions of jumping translocations in a case of aggressive B-cell non-Hodgkin lymphoma.
Cancer genetics and cytogenetics
1997

Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.
American journal of human genetics
1996

Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?
American journal of medical genetics
1996

Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.
American journal of human genetics
1995

Association of anophthalmia and esophageal atresia.
American journal of medical genetics
1995

Angelman syndrome.
Current problems in pediatrics
1995

Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene.
American journal of medical genetics
1994

Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies.
American journal of medical genetics
1993

Cytogenetic and molecular analysis in Angelman syndrome.
American journal of medical genetics
1993

Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.
American journal of medical genetics
1993

Angelman syndrome: clinical profile.
Journal of child neurology
1992

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.
Genomics
1992

Phenocopy versus genocopy.
American journal of medical genetics
1991

Relationship of autoimmunity to thyroid dysfunction in children and adults with Down syndrome.
American journal of medical genetics. Supplement
1990

Parental origin of del(15)(q11-q13) in Angelman and Prader-Willi syndromes.
American journal of medical genetics
1990

Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.
American journal of medical genetics
1990

Incidence of congenital rubella syndrome in 19 regions of Europe in 1980-1986.
European journal of epidemiology
1989

[Erythema toxicum neonatorum with pustulation versus transient neonatal pustular melanosis].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
1985

Malnutrition and hypernatremic dehydration in breast-fed infants.
JAMA
1982

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.