Yuri A. Zárate
Associate Professor, Geneticis
Also affiliated: Cincinnati Children's Hospital Medical Center (2007–2009); University of Kentucky HealthCare (2023–2025); Arkansas Children's Hospital (2013–2024); Mayo Clinic (2018); University of Kentucky (2023–2026); University of Arkansas Medical Center (2018); Greenwood Genetic Center (2010–2012); Seattle Children's Research Institute (2022); University of Cincinnati (2007–2009); Newcastle University (2016)
Peds Pediatrics, College of Medicine
Research Areas
Biomedical Subjects
Biography and Research Information
OverviewAI-generated summary
Yuri A. Zárate, an Associate Professor at the University of Arkansas for Medical Sciences, leads a research group focused on genetics and pediatric medicine. His work investigates the mechanisms, phenotypes, and genotype-phenotype correlations of various genetic disorders, particularly those affecting neurodevelopment. Zárate has published extensively on syndromes such as SATB2-associated syndrome and KAT6B disorders, contributing to the delineation of their clinical spectra.
His research also extends to understanding the genetic underpinnings of conditions like Fabry's disease and cerebellar malformations. Zárate's scholarship metrics include an h-index of 28, with over 3,198 citations across 149 publications. He is recognized as a highly cited researcher and collaborates with colleagues at the University of Arkansas for Medical Sciences, including Katherine B. Bosanko, Anna Blackshare, Larry D. Hartzell, and Aaron Hiegert.
Metrics
- h-index: 28
- Publications: 149
- Citations: 3,207
Positions
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Associate Professor, Geneticis publications 2014–2026University of Arkansas for Medical Sciences Peds Pediatrics, College of Medicine Institutional directory
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Professor and Division Chief publications 2023–2026University of Kentucky Pediatrics/Genetics ORCID
Selected Publications
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Cognitive function depends upon Satb2 gene dosage in cortical projection neurons (2026)
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Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework (2026)
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Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity (2026)MPG.PuRe (Max Planck Society) OpenAlex
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Prioritizing topics for a clinical practice guideline on SATB2-associated syndrome (2026)DiRROS repository (University of Maribor) OpenAlex
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Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification (2026)
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Prioritizing topics for a clinical practice guideline on SATB2-associated syndrome: methodological rigor vs clinical usability (2026)
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Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity (2025)
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‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors (2025)
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Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity (2025)
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Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics (2025)
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Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways (2024)
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Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes (2024)
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Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome (2024)
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NR3C2 microdeletions—an underrecognized cause of pseudohypoaldosteronism type 1A: a case report and literature review (2024)
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Listening to patients with suspected genetic diagnoses: A narrative perspective (2023)
Grants & Funding
As listed on this researcher's institutional profile.
- Novel role of immunoproteaseome during renal cold storage and transplantation UAMS College of Medicine Principal Investigator
- Birth Defects Study to Evaluate Pregnancy exposureS (BD-STEPS) Core? Arkansas Center and Stillbirth NIH Co-Investigator
- RII Track 2 FEC: Multi-scale Integrative Approach to Digital Health: Collaborative Research and Education in Smart Health in West Virginia and Arkansas" National Science Foundation via West Virginia University Principal Investigator
- Patient and Stakeholder Alliance for SATB2-Associated Syndrome UAMS ACHRI Flow Through Principal Investigator
- RFA-DD-18-001 Birth Defects Study To Evaluate Pregnancy exposures (BD-STEPS) II Core & Component B Steps -Stillbirth NIH Co-Investigator
- EPSCoR - CASE Summer National Science Foundation via Arkansas Economic Development Commission Principal Investigator
Collaboration Network
Top Collaborators
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- Mutation update for the SATB2 gene
- JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
- COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse
- Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
Showing 5 of 23 shared publications
- SATB2‐associated syndrome: Mechanisms, phenotype, and practical recommendations
- Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing
- Genotype and phenotype in 12 additional individuals with SATB2 ‐associated syndrome
- Bone health and SATB2 ‐associated syndrome
- Satb2 regulates proliferation and nuclear integrity of pre-osteoblasts
Showing 5 of 12 shared publications
- Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome
- Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion
- Nuclear radiation and prevalence of structural birth defects among infants born to women from the Marshall Islands
- A clinical scoring system for early onset (neonatal) Marfan syndrome
- Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use
Showing 5 of 11 shared publications
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- Molecular and Cytogenetic Evaluation of a Patient with Ring Chromosome 13 and Discordant Results
- COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse
- SMARCE1, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases
- The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey
Showing 5 of 8 shared publications
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing
- COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse
- Aortic dilation in pediatric patients
- Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate
Showing 5 of 7 shared publications
- Genotype and phenotype in 12 additional individuals with SATB2 ‐associated syndrome
- Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
- Speech, language, and feeding phenotypes of SATB2 ‐associated syndrome
- SATB2 ‐associated syndrome in adolescents and adults
- Behavioral phenotype and sleep problems in SATB 2 ‐associated syndrome
Showing 5 of 7 shared publications
- Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
- MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
- SMARCE1, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases
- Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses
- MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
Showing 5 of 6 shared publications
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
- Genotype and phenotype in 12 additional individuals with SATB2 ‐associated syndrome
- Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy
- Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses
Showing 5 of 6 shared publications
- Lessons from a pair of siblings with BPAN
- Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome
- The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey
- Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome
- Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p
Showing 5 of 6 shared publications
- A dyadic approach to the delineation of diagnostic entities in clinical genomics
- Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
- Response to Hamosh et al.
- Listening to patients with suspected genetic diagnoses: A narrative perspective
- Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework
- COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse
- Aortic dilation in pediatric patients
- Aortic dilation, genetic testing, and associated diagnoses
- Impact of Aortic Aneurysm on Hospitalizations in Patients with Marfan Syndrome: A Multi-Institutional Study
- Redefining the Etiologic Landscape of Cerebellar Malformations
- MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
- De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism
- Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- Genotype and phenotype in 12 additional individuals with SATB2 ‐associated syndrome
- De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism
- Cover Image, Volume 176A, Number 4, April 2018
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
- Genotype and phenotype in 12 additional individuals with SATB2 ‐associated syndrome
- Cover Image, Volume 176A, Number 4, April 2018
- Mutation update for the SATB2 gene
- Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series
- Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics
- Corneal Findings in Arterial Tortuosity Syndrome
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