Gabriella Horváth
Children's & Women's Health Centre of British Columbia(CA)BC Children's Hospital(CA)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care(2015)391 cited
- → Exome Sequencing and the Management of Neurometabolic Disorders(2016)279 cited
- → A novel recurrent mutation in ATP1A3 causes CAPOS syndrome(2014)190 cited
- → Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing(2017)145 cited
- → Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies(2020)145 cited
- → Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy(2017)126 cited
- → Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood