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Biography and Research Information
OverviewAI-generated summary
Aixa Gonzalez Garcia's research focuses on the genetic and phenotypic characterization of rare pediatric and adult-onset disorders. Her work includes case series and reviews of conditions such as Childhood-Onset Hereditary Spastic Paraplegia (HSP), Menke-Hennekam syndrome, and NBAS-associated disease. Garcia also investigates inborn errors of metabolism, specifically examining elevated homocysteine levels as a potential indicator. Her research has expanded the understanding of the phenotype in SYNCRIP-Related Neurodevelopmental Disorder and has explored the diverse clinical presentations associated with pathogenic variants in genes like MED12. She has published on the importance of patient perspectives in genetic diagnosis and has co-authored studies with researchers from the University of Arkansas for Medical Sciences and the University of Arkansas at Fayetteville.
Metrics
- h-index: 6
- Publications: 14
- Citations: 120
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
Anna Hurst
University of Alabama at Birmingham (US)
2 shared publications
- Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
- Listening to patients with suspected genetic diagnoses: A narrative perspective
Hong Li
1 shared publication
- Identification of adult patients with significantly elevated homocysteine due to inborn errors of metabolism, using key existing clinical data points
Sunaina Kapur
Emory University (US)
1 shared publication
- Two females with distinct de novo missense pathogenic variants in <scp><i>MED12</i></scp> and vastly differing phenotypes
Matthew B. Walsh
Emory University (US)
1 shared publication
- Two females with distinct de novo missense pathogenic variants in <scp><i>MED12</i></scp> and vastly differing phenotypes
Jaime Vengoechea
Emory University (US)
1 shared publication
- Two females with distinct de novo missense pathogenic variants in <scp><i>MED12</i></scp> and vastly differing phenotypes
Tanya F. Panwala
Florida Atlantic University (US)
1 shared publication
- Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature
Rocío García-Santibáñez
Emory University (US)
1 shared publication
- Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature
Joaquín A. Vizcarra
Emory University (US)
1 shared publication
- Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature
Sumit Verma
1 shared publication
- Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature
Geoffrey Smith
Emory University (US)
1 shared publication
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
Michael J. Gambello
Emory University (US)
1 shared publication
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
Jitka Sokolová
General University Hospital in Prague (CZ)
1 shared publication
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
Viktor Kožich
General University Hospital in Prague (CZ)
1 shared publication
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
Hong Li
Emory University (US)
1 shared publication
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
Emily Montoya
Arkansas Children's Hospital (US)
1 shared publication
- P179: Never two late: A dual diagnosis of Noonan syndrome and hypophosphatasia in an adolescent patient with unusual presentation
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