GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ... Journal of medical genetics 54 (7), 460-470, 2017 | 256 | 2017 |
Mechanistic insight into NMDA receptor dysregulation by rare variants in the GluN2A and GluN2B agonist binding domains SA Swanger, W Chen, G Wells, PB Burger, A Tankovic, S Bhattacharya, ... The American Journal of Human Genetics 99 (6), 1261-1280, 2016 | 177 | 2016 |
GRIN2D recurrent de novo dominant mutation causes a severe epileptic encephalopathy treatable with NMDA receptor channel blockers D Li, H Yuan, XR Ortiz-Gonzalez, ED Marsh, L Tian, EM McCormick, ... The American Journal of Human Genetics 99 (4), 802-816, 2016 | 172 | 2016 |
Molecular mechanism of disease-associated mutations in the pre-M1 helix of NMDA receptors and potential rescue pharmacology KK Ogden, W Chen, SA Swanger, MJ McDaniel, LZ Fan, C Hu, ... PLoS genetics 13 (1), e1006536, 2017 | 128 | 2017 |
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria AE Fry, KA Fawcett, N Zelnik, H Yuan, BAN Thompson, L Shemer-Meiri, ... Brain 141 (3), 698-712, 2018 | 101 | 2018 |
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia K Gao, A Tankovic, Y Zhang, H Kusumoto, J Zhang, W Chen, W XiangWei, ... PLoS One 12 (2), e0170818, 2017 | 74 | 2017 |
Functional evaluation of a de novo GRIN2A mutation identified in a patient with profound global developmental delay and refractory epilepsy W Chen, A Tankovic, PB Burger, H Kusumoto, SF Traynelis, H Yuan Molecular pharmacology 91 (4), 317-330, 2017 | 73 | 2017 |
De novo GRIN variants in NMDA receptor M2 channel pore‐forming loop are associated with neurological diseases J Li, J Zhang, W Tang, RK Mizu, H Kusumoto, W XiangWei, Y Xu, W Chen, ... Human mutation 40 (12), 2393-2413, 2019 | 68 | 2019 |
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy W XiangWei, V Kannan, Y Xu, GJ Kosobucki, AJ Schulien, H Kusumoto, ... Brain 142 (10), 3009-3027, 2019 | 61 | 2019 |
An NMDAR positive and negative allosteric modulator series share a binding site and are interconverted by methyl groups R Perszyk, BM Katzman, H Kusumoto, SA Kell, MP Epplin, YA Tahirovic, ... Elife 7, e34711, 2018 | 40 | 2018 |
Short term outcomes of an enhanced recovery after surgery (ERAS) pathway versus a traditional discharge pathway after posterior spinal fusion for adolescent idiopathic scoliosis ND Fletcher, JS Murphy, TM Austin, RW Bruce, H Harris, P Bush, A Yu, ... Spine Deformity 9, 1013-1019, 2021 | 33 | 2021 |
A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder A Fernández‐Marmiesse, H Kusumoto, S Rekarte, I Roca, J Zhang, ... Movement Disorders 33 (6), 992-999, 2018 | 32 | 2018 |
Factors contributing to diurnal variation in athletic performance and methods to reduce within-day performance variation: a systematic review H Kusumoto, C Ta, SM Brown, MK Mulcahey The Journal of Strength & Conditioning Research 35, S119-S135, 2021 | 24 | 2021 |
The GluN2B‐Glu413Gly NMDA receptor variant arising from a de novo GRIN2B mutation promotes ligand‐unbinding and domain opening G Wells, H Yuan, MJ McDaniel, H Kusumoto, JP Snyder, DC Liotta, ... Proteins: Structure, Function, and Bioinformatics 86 (12), 1265-1276, 2018 | 21 | 2018 |
The bioactive protein-ligand conformation of GluN2C-selective positive allosteric modulators bound to the NMDA receptor TM Kaiser, SA Kell, H Kusumoto, G Shaulsky, S Bhattacharya, MP Epplin, ... Molecular pharmacology 93 (2), 141-156, 2018 | 17 | 2018 |
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor Y Xu, R Song, RE Perszyk, W Chen, S Kim, KL Park, JP Allen, KA Nocilla, ... Cellular and Molecular Life Sciences 81 (1), 153, 2024 | 8 | 2024 |
Management of orthopaedic emergencies during a pandemic: compartment syndrome of the hand in a patient with COVID-19: a case report KL Hill, VJ Wu, H Kusumoto, WF Sherman, FH Savoie III JBJS Case Connector 10 (3), e20, 2020 | 4 | 2020 |