Sheel Pathak

Neurologic and neuroimaging manifestations of Cantú syndrome

Christopher R. Leon Guerrero, Sheel Pathak, Dorothy K. Grange et al. · Neurology · 2016 · 43 citations · Full text

Medicine, Neurology, Pediatrics +17

Randomized Clinical Trial of<scp>First‐Line</scp>Genome Sequencing in Pediatric White Matter Disorders

Adeline Vanderver, Geneviève Bernard, Guy Helman et al. · Annals of Neurology · 2020 · 29 citations · Full text

Life Sciences, Genetics, Pediatrics +10

Mutations in the <scp>PH</scp> Domain of <i><scp>DNM</scp>1</i> are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities

Emily Brereton, Emily Fassi, Gabriel C. Araujo et al. · Molecular Genetics & Genomic Medicine · 2018 · 28 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Fatal Human Herpesvirus 6–Associated Encephalitis in Two Boys With Underlying POLG Mitochondrial Disorders

Duha Al‐Zubeidi, Mathula Thangarajh, Sheel Pathak et al. · Pediatric Neurology · 2014 · 23 citations

Life Sciences, Infectious Diseases, Neurology +13

Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry

Danielle Boyce, Sheena McGee, Lisa M. Shank et al. · Epilepsy & Behavior · 2021 · 20 citations

Medicine, Genetics, Pediatrics +14