Aixa Gonzalez Garcia
Assistant Professor
Also affiliated: Arkansas Children's Hospital (2022–2026); Emory University (2019–2022)
Research Areas
Biomedical Subjects
Links
Biography and Research Information
OverviewAI-generated summary
Aixa Gonzalez Garcia's research focuses on investigating genetic causes and clinical manifestations of rare diseases, particularly those affecting neurodevelopment and growth in children. Her work includes the identification of rare variants in genes such as SUZ12, PLEC, and SMC1A, which are associated with overgrowth phenotypes, congenital myasthenic syndrome, and Cornelia de Lange-like presentations, respectively. She also studies the phenotype expansion in individuals with SYNCRIP-related neurodevelopmental disorder and the hepatic manifestations in NBAS-associated disease. Gonzalez Garcia has published on childhood-onset hereditary spastic paraplegia and Menke-Hennekam syndrome, contributing to the delineation of disease subtypes and their associated DNA methylation profiles. Her scholarship metrics include an h-index of 7, with 14 total publications and 140 citations.
Metrics
- h-index: 7
- Publications: 15
- Citations: 143
Positions
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Assistant Professor 2021–presentUniversity of Arkansas for Medical Sciences Pediatrics ORCID
Selected Publications
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Hepatic Phenotype in NBAS‐Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients (2025)
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An expansion of the phenotype in individuals with SYNCRIP-Related Neurodevelopmental Disorder (2024)
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Listening to patients with suspected genetic diagnoses: A narrative perspective (2023)
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P179: Never two late: A dual diagnosis of Noonan syndrome and hypophosphatasia in an adolescent patient with unusual presentation (2023)
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Elevated homocysteine levels: What inborn errors of metabolism might we be missing? (2022)
Collaboration Network
Top Collaborators
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
- P179: Never two late: A dual diagnosis of Noonan syndrome and hypophosphatasia in an adolescent patient with unusual presentation
- Listening to patients with suspected genetic diagnoses: A narrative perspective
- Listening to patients with suspected genetic diagnoses: A narrative perspective
- Listening to patients with suspected genetic diagnoses: A narrative perspective
- Listening to patients with suspected genetic diagnoses: A narrative perspective
- Listening to patients with suspected genetic diagnoses: A narrative perspective
- Listening to patients with suspected genetic diagnoses: A narrative perspective
- Listening to patients with suspected genetic diagnoses: A narrative perspective
- Listening to patients with suspected genetic diagnoses: A narrative perspective
- Listening to patients with suspected genetic diagnoses: A narrative perspective
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