Hirofumi Kusumoto

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 256 citations · Full text

Life Sciences, Neurology, Neuroscience +17

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

Dong Li, Hongjie Yuan, Xilma R. Ortiz‐González et al. · The American Journal of Human Genetics · 2016 · 183 citations · Full text

Life Sciences, Neurology, Neuroscience +14

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains

Sharon A. Swanger, Wenjuan Chen, Gordon Wells et al. · The American Journal of Human Genetics · 2016 · 180 citations · Full text

Medicine, Neurobiology, Neuroscience +14

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology

Kevin K. Ogden, Wenjuan Chen, Sharon A. Swanger et al. · PLoS Genetics · 2017 · 127 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Andrew E. Fry, Katherine A. Fawcett, Nathanel Zelnik et al. · Brain · 2017 · 100 citations · Full text

Life Sciences, Genetics, Neuroscience +17