| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 184 | 2019 |
| Defining the phenotypic spectrum of SLC6A1 mutations KM Johannesen, E Gardella, T Linnankivi, C Courage, A de Saint Martin, ... Epilepsia 59 (2), 389-402, 2018 | 120 | 2018 |
| GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy Y Yoo, J Jung, YN Lee, Y Lee, H Cho, E Na, JY Hong, E Kim, JS Lee, ... Annals of neurology 82 (3), 466-478, 2017 | 77 | 2017 |
| JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms S Shirane, M Araki, S Morishita, Y Edahiro, H Takei, Y Yoo, M Choi, ... Haematologica 100 (2), e46, 2015 | 77 | 2015 |
| GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome‐like phenotype JS Lee, Y Yoo, BC Lim, KJ Kim, J Song, M Choi, JH Chae American journal of medical genetics Part A 170 (8), 2200-2205, 2016 | 59 | 2016 |
| Treatment of a genetic brain disease by CNS-wide microglia replacement Y Shibuya, KK Kumar, MMD Mader, Y Yoo, LA Ayala, M Zhou, MA Mohr, ... Science translational medicine 14 (636), eabl9945, 2022 | 49 | 2022 |
| Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis V Shashi, J Geist, Y Lee, Y Yoo, U Shin, K Schoch, J Sullivan, N Stong, ... Human mutation 40 (8), 1115-1126, 2019 | 23 | 2019 |
| Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations: Variable Severity in Psychomotor Development and Musculoskeletal Manifestation J Min Ko, JS Cho, Y Yoo, J Seo, M Choi, JH Chae, HR Lee, TJ Cho Journal of child neurology 32 (2), 237-242, 2017 | 23 | 2017 |
| Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations J Seo, IH Choi, JS Lee, Y Yoo, NKD Kim, M Choi, JM Ko, YB Shin Journal of human genetics 60 (4), 213-215, 2015 | 23 | 2015 |
| A cell therapy approach to restore microglial Trem2 function in a mouse model of Alzheimer’s disease Y Yoo, G Neumayer, Y Shibuya, MMD Mader, M Wernig Cell stem cell 30 (8), 1043-1053. e6, 2023 | 17 | 2023 |
| Overexpression of replication-dependent histone signifies a subset of dedifferentiated liposarcoma with increased aggressiveness Y Yoo, SY Park, EB Jo, M Choi, KW Lee, D Hong, S Lee, CR Lee, Y Lee, ... Cancers 13 (13), 3122, 2021 | 8 | 2021 |
| Group SS V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De …, 2019 | 6 | 2019 |
| Treatment of a genetic brain disease by CNS-wide microglia replacement. Sci. Transl. Med. 14, eabl9945 Y Shibuya, KK Kumar, MMD Mader, Y Yoo, LA Ayala, M Zhou, MA Mohr, ... | 5 | 2022 |
| Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population Y Lee, S Park, JS Lee, SY Kim, J Cho, Y Yoo, S Lee, T Yoo, M Lee, J Seo, ... Scientific Reports 10 (1), 1413, 2020 | 5 | 2020 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nat Commun 10 (1): 3094 V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... | 5 | 2019 |
| An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation JA Yoon, Y Yoo, JS Lee, YM Kim, YB Shin Molecular Genetics & Genomic Medicine 7 (3), e532, 2019 | 3 | 2019 |
| Genomic analysis of synchronous intracranial meningiomas with different histological grades T Chowdhury, Y Yoo, Y Seo, YS Dho, S Kim, A Choi, M Choi, SH Park, ... Journal of Neuro-Oncology 138, 41-48, 2018 | 3 | 2018 |
| Reply to" a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype". Y Yoo, J Cho, M Choi Annals of Neurology 83 (2), 439-439, 2018 | 1 | 2018 |
| Myeloid cell replacement is neuroprotective in chronic experimental autoimmune encephalomyelitis MMD Mader, A Napole, D Wu, M Atkins, A Scavetti, Y Shibuya, A Foltz, ... Nature Neuroscience, 1-12, 2024 | | 2024 |
| RAPIDASH: A tag-free enrichment of ribosome-associated proteins reveals compositional dynamics in embryonic tissues and stimulated macrophages TT Susanto, V Hung, AG Levine, CH Kerr, Y Yoo, Y Chen, JA Oses-Prieto, ... bioRxiv, 2023 | | 2023 |
