Yuri A. Zárate

High Impact

Associate Professor, Geneticis

UAMS

Last publication 2026 Last refreshed 2026-05-16

faculty

Peds Pediatrics, College of Medicine

28 h-index 148 pubs 3,089 cited

Research Areas

Links

ORCID Research Group UAMS TRI Profile

OverviewAI-generated summary

Yuri A. Zárate, Associate Professor in the Department of Pediatrics at the University of Arkansas for Medical Sciences, conducts research focused on genetic disorders and their phenotypic manifestations, particularly in children. His work investigates the relationship between genetic mutations and complex neurological and developmental conditions. Zárate has published research on topics such as loss-of-function variants in genes like MYCBP2, which are associated with neurobehavioral phenotypes and corpus callosum defects, and de novo coding variants in the AGO1 gene, linked to neurodevelopmental disorders and intellectual disability.

His recent publications also explore the genetic underpinnings of conditions like intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy, stemming from variants in the AFF3 gene. Further research includes the study of bi-allelic variants in INTS11 associated with complex neurological disorders and CDK19-related disorders resulting from both loss-of-function and gain-of-function de novo missense variants. Zárate also contributed to a study on a phase 2 clinical trial for achondroplasia treatment in children. He leads a research group and has collaborated with researchers at the University of Arkansas for Medical Sciences, including Anna Blackshare, Larry D. Hartzell, Aaron Hiegert, and Kirk Simmons.

With an h-index of 28 and over 3,000 citations across 147 publications, Zárate is recognized as a highly cited researcher. His work contributes to the understanding of rare genetic diseases and their clinical impact.

Metrics

h-index: 28
Publications: 148
Citations: 3,089

Selected Publications

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification (2026)

DOI OpenAlex
Prioritizing topics for a Clinical Practice Guideline on SATB2-Associated Syndrome: Methodological rigor versus clinical usability (2026)

DOI OpenAlex
Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity (2025)

DOI OpenAlex
‘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)

DOI OpenAlex
Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity (2025)

1 citation DOI OpenAlex
Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics (2025)

2 citations DOI OpenAlex
Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways (2024)

1 citation DOI OpenAlex
Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes (2024)

3 citations DOI OpenAlex
Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome (2024)

7 citations DOI OpenAlex
NR3C2 microdeletions—an underrecognized cause of pseudohypoaldosteronism type 1A: a case report and literature review (2024)

1 citation DOI OpenAlex
Listening to patients with suspected genetic diagnoses: A narrative perspective (2023)

DOI OpenAlex
THU156 Significantly Improved Annual Height Velocity With Once-Weekly TransCon CNP In Children With Achondroplasia: The ACcomplisH Phase 2, Randomized, Double-Blind, Placebo-Controlled, Dose-Escalation Trial (2023)

DOI OpenAlex
Bone health in SATB2‐associated syndrome: Results from a large prospective cohort and recommendations for surveillance (2023)

2 citations DOI OpenAlex
Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial (2023)

18 citations DOI OpenAlex
Once-Weekly TransCon CNP in Children with Achondroplasia (ACcomplisH): A Phase 2, Multicentre, Randomised, Double-Blind, Placebo-Controlled, Dose-Escalation Trial (2023)

DOI OpenAlex

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Grants & Funding

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 - Pass Through: West Virginia University Principal Investigator
Novel role of immunoproteaseome during renal cold storage and transplantation UAMS College of Medicine Principal Investigator
Patient and Stakeholder Alliance for SATB2-Associated Syndrome UAMS ACHRI Flow Through Principal Investigator
Birth Defects Study to Evaluate Pregnancy exposureS (BD-STEPS) Core? Arkansas Center and Stillbirth NIH 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