Yuri A. Zárate

High Impact

Associate Professor, Geneticis

UAMS primary UA Little Rock

Also affiliated: Cincinnati Children's Hospital Medical Center (2007–2009); University of Kentucky HealthCare (2025); Arkansas Children's Hospital (2013–2024); University of Kentucky (2023–2026); University of Arkansas Medical Center (2015–2020); Centre for Life (2016); Muscular Dystrophy UK (2016); Mayo Clinic in Florida (2018); Pediatrics and Genetics (2010–2025); Greenwood Genetic Center (2010–2012); University of Cincinnati (2007–2009)

Faculty Researcher

Peds Pediatrics, College of Medicine

28 h-index 147 pubs 3,164 cited

Research Areas

Biomedical Subjects

Links

ORCID Research Group UAMS TRI Profile

OverviewAI-generated summary

Yuri A. Zárate's research focuses on the genetic underpinnings of neurodevelopmental and congenital disorders. His work investigates the relationship between genetic variants and observable phenotypes, particularly in children. Zárate has published on topics including intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy associated with variants in genes such as AFF3 and MYCBP2. His research also explores the genetic basis of corpus callosum defects and complex neurological disorders linked to genes like INTS11.

Further investigations by Zárate include the role of de novo coding variants in genes like AGO1 in causing neurodevelopmental disorders and intellectual disability. He has also examined the impact of both loss-of-function and gain-of-function variants in CDK19 on related disorders. Additionally, his work has contributed to understanding the genetic landscape of conditions like blue cone monochromacy, specifically focusing on structural variants at the OPN1LW/OPN1MW gene cluster.

Zárate leads a research group and has a significant publication record, with 147 publications and over 3,100 citations, reflected in his h-index of 28. He is recognized as a highly cited researcher. His collaborations include 11 shared publications with Katherine B. Bosanko at the University of Arkansas for Medical Sciences, as well as collaborations with Anna Blackshare, Larry D. Hartzell, and Aaron Hiegert.

Metrics

h-index: 28
Publications: 147
Citations: 3,164

Selected Publications

Cognitive function depends upon Satb2 gene dosage in cortical projection neurons (2026)

bioRxiv (Cold Spring Harbor Laboratory) DOI OpenAlex
Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework (2026)

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

medRxiv DOI OpenAlex
Prioritizing topics for a clinical practice guideline on SATB2-associated syndrome: methodological rigor vs clinical usability (2026)

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

Human Genetics and Genomics Advances 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)

Journal of Medical Genetics 2 citations DOI OpenAlex
Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity (2025)

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

EBioMedicine 8 citations DOI OpenAlex
Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways (2024)

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

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

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

Laboratory Medicine 2 citations DOI OpenAlex
Listening to patients with suspected genetic diagnoses: A narrative perspective (2023)

American Journal of Medical Genetics Part C Seminars in Medical Genetics 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)

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

American Journal of Medical Genetics Part A 2 citations DOI OpenAlex

View all publications on OpenAlex →

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