Gisele E. Ishak

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Laura A. Jansen, Ghayda Mirzaa, Gisele E. Ishak et al. · Brain · 2015 · 365 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps et al. · Journal of Medical Genetics · 2015 · 297 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Association of <i>MTOR</i> Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

Ghayda Mirzaa, Catarina D. Campbell, Nadia Solovieff et al. · JAMA Neurology · 2016 · 276 citations · Full text

Medicine, Molecular Genetics, Pediatrics +17

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

Muzammil Ahmad Khan, Muhammad Rafiq, Abdul Noor et al. · The American Journal of Human Genetics · 2012 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Glial injury in neurotoxicity after pediatric CD19‐directed chimeric antigen receptor T cell therapy

Juliane Gust, Olivia Finney, Daniel Li et al. · Annals of Neurology · 2019 · 187 citations · Full text

Medicine, Neurology, Pediatrics +16