Yuri A. Zárate
Associate Professor, Geneticis
University of Arkansas for Medical Sciences
faculty
Peds Pediatrics, College of Medicine
Research Areas
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Biography and Research Information
OverviewAI-generated summary
Yuri A. Zárate is an Associate Professor in the Department of Genetics at the University of Arkansas for Medical Sciences, College of Medicine. His research group focuses on the study of genetic variants associated with rare and complex diseases, particularly those affecting neurodevelopment. His work has contributed to the identification of specific genes and mutations linked to conditions such as intellectual disability, mesomelic dysplasia, epileptic encephalopathy, and corpus callosum defects.
Dr. Zárate's recent publications investigate the impact of loss-of-function and de novo missense variants in genes including AFF3, MYCBP2, INTS11, AGO1, and CDK19. He has also explored genetic alterations underlying conditions like blue cone monochromacy. His research utilizes a dyadic approach to delineate diagnostic entities within clinical genomics. With an h-index of 28 and over 3,000 citations across 143 publications, he is recognized as a highly cited researcher. He collaborates with colleagues at the University of Arkansas for Medical Sciences, including Anna Blackshare, Larry D. Hartzell, and Aaron Hiegert.
Metrics
- h-index: 28
- Publications: 143
- Citations: 3,029
Selected Publications
- Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity (2025) DOI
- ‘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
- Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity (2025) DOI
- Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways (2024) DOI
- Pathogenic <i>SATB2</i> missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes (2024) DOI
- Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome (2024) DOI
- <i>NR3C2</i> microdeletions—an underrecognized cause of pseudohypoaldosteronism type 1A: a case report and literature review (2024) DOI
- Listening to patients with suspected genetic diagnoses: A narrative perspective (2023) DOI
- 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
- Bone health in <i>SATB2</i>‐associated syndrome: Results from a large prospective cohort and recommendations for surveillance (2023) DOI
- Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial (2023) DOI
- Once-Weekly TransCon CNP in Children with Achondroplasia (ACcomplisH): A Phase 2, Multicentre, Randomised, Double-Blind, Placebo-Controlled, Dose-Escalation Trial (2023) DOI
- Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome (2023) DOI
- Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration (2023) DOI
- Loss-of-function variants in<i>MYCBP2</i>cause neurobehavioural phenotypes and corpus callosum defects (2022) DOI
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
Collaborators
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