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Office
Arkansas Children's Hospital
1 Children's Way
Little Rock, AR 72202Phone+1 501-263-2621- Is this information wrong?
Summary
- I am a board certifications in
pediatrician, clinical genetics and medical biochemical genetics.
Employed by UAMS and proudly practicing at Arkansas Children's Hospital in Little Rock, AR, USA.
Education & Training
- Emory University School of MedicineFellowship, Medical Genetics and Genomics, 2020 - 2021
- Emory University School of MedicineResidency, Medical Genetics and Genomics, 2018 - 2021
- NCH Healthcare SystemResidency, Pediatrics, 2015 - 2018
- Central University of VenezuelaClass of 2011
Certifications & Licensure
- AR State Medical License 2020 - 2024
- GA State Medical License 2018 - 2023
- American Board of Medical Genetics and Genomics Medical Biochemical Genetics
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- ACMG/Takeda Medical Biochemical Fellowship Award ACMG, 2020
Publications & Presentations
PubMed
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?Aixa Gonzalez, Geoffrey Hughes Smith, Michael J Gambello, Jitka Sokolová, Viktor Kožich, Hong Li> ;American Journal of Medical Genetics. Part A. 2023 Jan 1
- Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature.Panwala TF, Garcia-Santibanez R, Vizcarra JA, Garcia AG, Verma S> ;Pediatric neurology. 2022-03-03
- Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.Aixa Gonzalez, Sunaina Kapur, Matthew B. Walsh, Jaime Vengoechea> ;American Journal of Medical Genetics. Part A. 2021 Apr 29
Journal Articles
- Novel PLEC gene variants causing congenital myasthenic syndromeGonzalez Garcia A, Tutmaher MS, Upadhyayula SR, Sanchez Russo R, Verma S, Muscle Nerve, 12/2019
- Rare SUZ12 variants commonly cause an overgrowth phenotypeCyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E; C.A.U.S.E.S. Study, Brown K, Saenz MS, Svi..., Am J Med Genet C Semin Med Genet, 12/2019
Professional Memberships
- American College of Medical Genetics (ACMG)Fellow
- Society for Inherited Metabolic Diseases (SIMD)Member
- International Society for the Study of Vascular Anomalies (ISSVA)Member
Other Languages
- Spanish
Hospital Affiliations
- UAMS Medical CenterLittle Rock, Arkansas
- Arkansas Children's HospitalLittle Rock, Arkansas
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