PUBLICATIONS
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RAPIDASH: Tag-free enrichment of ribosome-associated proteins reveals composition dynamics in embryonic tissue, cancer cells, and macrophages.
Susanto et al. Mol Cell. 2024
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Myeloid cell replacement is neuroprotective in chronic experimental autoimmune encephalomyelitis.
Mader et al. Nat Neurosci. 2024
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Integrative analyses highlight functional regulatory variants associated with neuropsychiatric diseases.
Guo et al. Nat Genet. 2023
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A cell therapy approach to restore microglial Trem2 function in a mouse model of Alzheimer's disease.
Yoo et al. Cell Stem Cell. 2023
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Treatment of a genetic brain disease by CNS-wide microglia replacement.
Shibuya, Yoo et al. Sci Transl Med. 2022
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Overexpression of Replication-Dependent Histone Signifies a Subset of Dedifferentiated Liposarcoma with Increased Aggressiveness.
Yoo et al. Cancers (Basel). 2021
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Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population.
Lee et al. Sci Rep. 2020
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro et al. Nat Commun. 2019
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Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Shashi et al. Hum Mutat. 2019
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An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation.
Yoon et al. Mol Genet Genomic Med. 2019
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Genomic analysis of synchronous intracranial meningiomas with different histological grades.
Chowdhury*, Yoo* et al. J Neurooncol. 2018
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Reply to “A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype”.
Yoo et al. Ann Neurol. 2018
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Defining the phenotypic spectrum of SLC6A1 mutations.
Johannesen et al. Epilepsia. 2018
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GABBR2 mutations determine phenotype in Rett syndrome and Epileptic encephalopathy.
Yoo et al. Ann Neurol. 2017
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Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up.
Kadara et al. Ann Oncol. 2017
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Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
Ko et al. J Child Neurol. 2017
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GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.
Lee*, Yoo* et al. Am J Med Genet A. 2016
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SATB2-associated syndrome presenting with Rett-like phenotypes.
Lee et al. Clin Genet. (2016)
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JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms.
Shirane et al. Haematologica. 2015
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Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
Seo et al. J Hum Genet. 2015.