Sangmoon Lee
Affiliations: | University of California, San Diego, La Jolla, CA |
Area:
Neurodevelopmental diseaseGoogle:
"Sangmoon Lee"Parents
Sign in to add mentor| Murim Choi | grad student | 2013-2018 | Seoul National University (Neurotree) |
| Joseph G. Gleeson | post-doc | 2018- | (Neurotree) |
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Publications
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| Beaman MM, Guidugli L, Hammer M, et al. (2023) Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. American Journal of Medical Genetics. Part A |
| Wang L, Heffner C, Vong KL, et al. (2023) TMEM161B modulates radial glial scaffolding in neocortical development. Proceedings of the National Academy of Sciences of the United States of America. 120: e2209983120 |
| Park S, Lee H, Lee J, et al. (2022) RNA-seq profiling of tubulointerstitial tissue reveals a potential therapeutic role of dual anti-phosphatase 1 in glomerulonephritis. Journal of Cellular and Molecular Medicine |
| Kumar R, Corbett MA, Smith NJC, et al. (2022) Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder. Npj Genomic Medicine. 7: 9 |
| Wang L, Sievert D, Clark AE, et al. (2021) A human three-dimensional neural-perivascular 'assembloid' promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology. Nature Medicine |
| Yoo Y, Park SY, Jo EB, et al. (2021) Overexpression of Replication-Dependent Histone Signifies a Subset of Dedifferentiated Liposarcoma with Increased Aggressiveness. Cancers. 13 |
| Lee S, Shin CH, Lee J, et al. (2021) Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. Blood |
| Kour S, Rajan DS, Fortuna TR, et al. (2021) Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature Communications. 12: 2558 |
| Chai G, Webb A, Li C, et al. (2020) Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron |
| Ghosh SG, Lee S, Fabunan R, et al. (2020) Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genetics in Medicine : Official Journal of the American College of Medical Genetics |