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Publications

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2025

  1. Mader MM, Scavetti A, Yoo Y, Chai AT, Uenaka T, Wernig M. Therapeutic genetic restoration through allogeneic brain microglia replacement. Nature. (2025) [Link]

  2. Bang JY, Yoo Y. Rationale and emerging evidence for microglial replacement in Alzheimer’s disease. Mol Cells. (2025) [Link]

  3. Oh SJ, Kim YY, Ma R, Choi ST, Choi SM, Cho JH, Hur JY, Yoo Y, Han K, Park H, Yun J, Shin OS. Pharmacological targeting of mitophagy via ALT001 improves herpes simplex virus 1 (HSV1)-mediated microglial inflammation and promotes amyloid β phagocytosis by restricting HSV1 infection. Theranostics. (2025) [Link]

  4. Uenaka T, Jung S*, Kumar I*, Vodehnal K*, Rastogi M*, Yoo Y*, Koontz M, Thome C, Li W, Chan T, Green EM, Chesnov K, Sun Z, Zhang S, Wang J, Venida A, Mellier AM, Atkins M, Jackrel M, Skotheim JM, Wyss-Coray T, Abu-Remaileh M, Lashuel HA, Bassik MC, Südhof TC, Del Sol A, Ullian E, Wernig M. Defined human tri-lineage brain microtissues. bioRxiv. (2025) *: Equal contributions [Link]

  5. Chan TC, Rastogi M, Williams MX, Zhang S, Shi SM, Shuken SR, Bartling T, Wild K, Atkins M, Hahn O, Paulo JA, Jereb S, Shuster SA, Yoo Y, Napole A, Hernandez VG, Luo L, Buckwalter MS, Stevens B, Deverman BE, Kronenberg-Versteeg D, Gygi SP, Wyss-Coray T, Wernig M. bioRxiv. (2025) [Link]

  6. Yoo Y, Mader MM, Scavetti A, Chan T, Uenaka T, Kumar KK, Shibuya Y, Mahaney KB, Buch VP, Grant G, Bennett FC, Heppner FL, Wernig M. Differential CSF1R signaling enables widespread integration of genetically unmodified human microglia into the mouse brain. In Revision. (2025)

  7. Mader MM, Scavetti A, Yoo Y, Han K, Neumayer G, Shibuya Y, Haney M, Wyss-Coray T, Lefcort F, Bassik M, Nakauchi H, Wilkinson A, Wernig M. A genetic screen in primary hematopoietic progenitors identifies Elp1 as a regulator of myeloid cell differentiation and brain repopulation. In Revision. (2025)


2024

  1. Susanto TT, Hung V, Levine AG, Chen Y, Kerr CH, Yoo Y, Oses-Prieto JA, Fromm L, Zhang Z, Lantz TC, Fujii K, Wernig M, Burlingame AL, Ruggero D, Barna M. RAPIDASH: Tag-free enrichment of ribosome-associated proteins reveals composition dynamics in embryonic tissue, cancer cells, and macrophages. Mol Cell. (2024) [Link]

  2. Mader MM, Napole A, Wu D, Shibuya Y, Scavetti A, Foltz A, Atkins M, Hahn O, Yoo Y, Danziger R, Tan C, Wyss-Coray T, Steinman L, Wernig M. Myeloid cell replacement is neuroprotective in chronic experimental autoimmune encephalomyelitis. Nat Neurosci. (2024) [Link]


2023

  1. Guo MG, Reynolds DL, Ang CE, Liu Y, Zhao Y, Donohue LKH, Siprashvili Z, Yang X, Yoo Y, Mondal S, Hong A, Kain J, Meservey L, Fabo T, Elfaki I, Kellman LN, Abell NS, Pershad Y, Bayat V, Etminani P, Holodniy M, Geschwind DH, Montgomery SB, Duncan LE, Urban AE, Altman RB, Wernig M, Khavari PA. Integrative analyses highlight functional regulatory variants associated with neuropsychiatric diseases. Nat Genet. (2023) [Link]

  2. Yoo Y, Neumayer G, Shibuya Y, Mader MM, Wernig M. A cell therapy approach to restore microglial Trem2 function in a mouse model of Alzheimer's disease. Cell Stem Cell. (2023) [Link]


2022

  1. Shibuya Y, Kumar KK*, Mader MM*, Yoo Y*, Ayala LA, Zhou M, Mohr MA, Neumayer G, Kumar I, Yamamoto R, Marcoux P, Liou B, Bennett FC, Nakauchi H, Sun Y, Chen X, Heppner FwL, Wyss-Coray T, Südhof TC, Wernig M. Treatment of a genetic brain disease by CNS-wide microglia replacement. Sci Transl Med. (2022) *: Equal contributions [Link]


2015 - 2021

  1. Yoo Y*, Park SY*, Jo EB, Choi M, Lee KW, Hong D, Lee S, Lee CR, Lee Y, Um JY, Park JB, Seo SW, Choi YL, Kim S, Lee SG, Choi M. Overexpression of Replication-Dependent Histone Signifies a Subset of Dedifferentiated Liposarcoma with Increased Aggressiveness. Cancers (Basel). (2021) *: Equal contributions [Link]

  2. Lee Y, Park S, Lee JS, Kim SY, Cho J, Yoo Y, Lee S, Yoo T, Lee M, Seo J, Lee J, Kneissl J, Lee J, Jeon H, Jeon EY, Hong SE, Kim E, Kim H, Kim WJ, Kim JS, Ko JM, Cho A, Lim BC, Kim WS, Choi M, Chae JH. Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population. Sci Rep. (2020) [Link]

  3. Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nat Commun. (2019) [Link]

  4. Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P, Undiagnosed Diseases Network, Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Hum Mutat. (2019) [Link]

  5. Yoon JA, Yoo Y, Lee JS, Kim YM, Shin YB. An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation. Mol Genet Genomic Med. (2019) [Link]

  6. Chowdhury T*, Yoo Y*, Seo Y, Dho YS, Kim S, Choi A, Choi M, Park SH, Park CK, Lee SH, Lee JY. Genomic analysis of synchronous intracranial meningiomas with different histological grades. J Neurooncol. (2018) *: Equal contributions [Link]

  7. Yoo Y, Cho J, Choi M. Reply to “A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype”. Ann Neurol. (2018) [Link]

  8. Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia (2018) [Link]

  9. Yoo Y*, Jung J*, Lee Y-N, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park SY, Wie J, Miller K, Shur N, Clow C, Ebel RS, DeBrosse SD., Henderson LB., Willaert R, Castaldi C, Tikhonova I, Bilgüvar K, Mane S, Kim KJ, Hwang YS, Lee SG, Choi H-J, So I, Lim BC, Seong JY, Shin YB, Jung H, Chae JH & Choi M. GABBR2 mutations determine phenotype in Rett syndrome and Epileptic encephalopathy. Ann Neurol. (2017) *: Equal contributions [Link]

  10. Kadara H, Choi M, Zhang J, Parra ER, Rodriguez-Canales J, Gaffney SG, Zhao Z, Behrens C, Fujimoto J, Chow C, Yoo Y, Kalhor N, Moran C, Rimm D, Swisher S, Gibbons DL, Heymach J, Kaftan E, Townsend JP, Lynch TJ, Schlessinger J, Lee J, Lifton RP, Wistuba II, Herbst RS. Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up. Ann Oncol. (2017) [Link]

  11. Ko JM, Cho JS, Yoo Y, Seo J, Choi M, Chae JH, Lee HR, Cho TJ. Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. J Child Neurol. (2017) [Link]

  12. Lee JS*, Yoo Y*, Lim BC, Kim KJ, Song J, Choi M, Chae JH. GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype. Am J Med Genet A. (2016) *: Equal contributions [Link]

  13. Lee JS, Yoo Y, Lim BC, Kim KJ, Choi M, Chae JH. SATB2-associated syndrome presenting with Rett-like phenotypes. Clin Genet. (2016) [Link]

  14. Shirane S, Araki M, Morishita S, Edahiro Y, Takei H, Yoo Y, Choi M, Sunami Y, Hironaka Y, Noguchi M, Koike M, Noda N, Ohsaka A, Komatsu N. JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms. Haematologica. (2015) [Link]

  15. Seo J, Choi IH, Lee JS, Yoo Y, Kim NK, Choi M, Ko JM, Shin YB. Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. J Hum Genet. (2015) [Link]