Aixa Gonzalez Garcia
Assistant Professor
Also affiliated: Arkansas Children's Hospital (2022–2025); Emory University (2019–2022)
Faculty Researcher
Research Areas
Biomedical Subjects
Links
Biography and Research Information
OverviewAI-generated summary
Aixa Gonzalez Garcia's research focuses on the genetic and phenotypic characterization of rare and complex pediatric and adult-onset disorders. Her work includes investigating the clinical presentations and underlying genetic mechanisms of conditions such as Menke-Hennekam syndrome, NBAS-associated disease, and SYNCRIP-related neurodevelopmental disorder. She has also explored the phenotype expansion in individuals with specific genetic variants, including those affecting the MED12 gene. Dr. Gonzalez Garcia's publications also address broader issues in genetic diagnosis, such as the importance of patient perspectives and the identification of inborn errors of metabolism through elevated homocysteine levels. Her research contributes to a better understanding of disease heterogeneity and the delineation of specific subtypes within genetic syndromes.
Metrics
- h-index: 7
- Publications: 14
- Citations: 139
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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