Aixa Gonzalez Garcia

Assistant Professor

University of Arkansas for Medical Sciences

faculty

6 h-index 14 pubs 117 cited

Research Areas

Genetics and Neurodevelopmental Disorders Metabolism and Genetic Disorders Child and Adolescent Health Neurological disorders and treatments Epigenetics and DNA Methylation Meta-analysis and systematic reviews Genomics and Rare Diseases

Links

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OverviewAI-generated summary

Aixa Gonzalez Garcia, an Assistant Professor at the University of Arkansas for Medical Sciences, investigates rare genetic disorders, particularly those affecting children and adolescents. Her work includes case series and reviews of literature to better understand conditions such as Childhood-Onset Hereditary Spastic Paraplegia and Menke-Hennekam syndrome. Garcia's research also focuses on identifying inborn errors of metabolism, referencing elevated homocysteine levels as a potential indicator for missed diagnoses. She has published on the hepatic phenotype in NBAS-associated disease and the expanded phenotype in individuals with SYNCRIP-Related Neurodevelopmental Disorder. Her publications also address the clinical presentation of MED12 variants and patient perspectives on genetic diagnoses, including a dual diagnosis case of Noonan syndrome and hypophosphatasia. Garcia's scholarship metrics include an h-index of 6, with 14 total publications and 117 total citations.

Metrics

h-index: 6
Publications: 14
Citations: 117

Selected Publications

Hepatic Phenotype in NBAS‐Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients (2025) DOI
Listening to patients with suspected genetic diagnoses: A narrative perspective (2023) DOI
P179: Never two late: A dual diagnosis of Noonan syndrome and hypophosphatasia in an adolescent patient with unusual presentation (2023) DOI
Elevated homocysteine levels: What inborn errors of metabolism might we be missing? (2022) DOI