Gabriella Horváth

Exome Sequencing and the Management of Neurometabolic Disorders

Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross et al. · New England Journal of Medicine · 2016 · 274 citations · Full text

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Michelle Demos, Clara DM van Karnebeek, Colin J.D. Ross et al. · Orphanet Journal of Rare Diseases · 2014 · 190 citations · Full text

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Anna Lehman, Samrat Thouta, Grazia M.S. Mancini et al. · The American Journal of Human Genetics · 2017 · 124 citations · Full text

Epileptic Encephalopathy, Neurophysiology, Genetic Disorder +10

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

Clara D.M. van Karnebeek, William S. Sly, Colin J.D. Ross et al. · The American Journal of Human Genetics · 2014 · 104 citations

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Michelle Demos, Ilaria Guella, C DeGuzman et al. · Frontiers in Neurology · 2019 · 98 citations · Full text

Neurogenomics, Genetics, Treatment Impact +25