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last update: Sep. 09. 2021


in reverse chronological order

[first-author (*) and corresponding author (#) papers from the lab. Lab members are shown in bold]
[Publications #1-#29 are papers by Young Seok Ju published elsewhere as a trainee]  


65. Yi K*, Kim SY, Bleazard T, Kim T, Youk J, Ju YS#. Mutational spectrum on SARS-CoV-2 during the global pandemic. Exp Mol Med. 2021 Aug;53(8):1229-1237.  Epub 2021 Aug 27. PMID:34453107

64. Park S*, Mali NM, Kim R*, Choi J-W, Lee J, …, Oh JW#, Ju YS#. Clonal dynamics in early human embryogenesis inferred from somatic mutation. Nature 2021 Aug 25. Online ahead of print. PMID:34433967

63. Lee JS, Koh JY, Yi K*, Kim YI, Park SJ, …, Park SH. Single-cell transcriptome of bronchoalveolar lavage fluid reveals sequential change of macrophages during SARS-CoV-2 infection in ferrets. Nat Commun 2021 Jul 27;12(1):4567. PMID:34315893

62. Park HR, Kim TM, Lee Y, Kim S, Park S, …, Heo DS. Acquired resistance to third-generation EGFR tyrosine kinase inhibitors in patients with de novo EGFRT790M-mutant non-small cell lung cancer. J Thorac Oncol. 2021 Jul 6:S1556-0864(21)02254-1. Online ahead of print. PMID:34242789

61. (mini review) Kim T*, Lee JS, Ju YS#. Experimental Models for SARS-CoV-2 Infection. Mol Cells. 2021 Jun 30;44(6):377-383. PMID:34187969

60. Ahn JH, Kim J, Hong SP, Choi SY, Yang MJ, …, Koh GY. Nasal ciliated cells are primary targets for SARS-CoV-2 replication in the early stage of COVID-19. J Clin Invest. 2021 Jul 1;131(13):e148517. PMID:34003804

59. (spotlight) Ju YS#. A large-scale snapshot of intratumor heterogeneity in human cancer. Cancer Cell. 2021 Apr 12;39(4):463-465. PMID:33848477

58. Park S, Lee HY, Kim J, Park H, Ju YS, Kim EG, Kim J. Cerebral Cavernous Malformation 1 Determines YAP/TAZ Signaling-Dependent Metastatic Hallmarks of Prostate Cancer Cells. Cancers (Basel). 2021 Mar 5;13(5):1125. PMID:33807895

57. Park JH, Kim HJ, Kim CW, Kim HC, Jung Y, …, Lee HK. Tumor hypoxia represses γδ T cell-mediated antitumor immunity against brain tumors. Nat Immunol. 2021 Mar;22(3):336-346. PMID:33574616

56. Kim HD, Jeong S, Park S, Lee YJ, Ju YS, …, Park SH. Implication of CD69+ CD103+ tissue-resident-like CD8+ T cells as a potential immunotherapeutic target for cholangiocarcinoma. Liver Int. 2021 Apr;41(4):764-776. PMID:33548061

55. Leem G, Park J, Jeon M, Kim ES, Kim SW, …, Park SH. 4-1BB co-stimulation further enhances anti-PD-1-mediated reinvigoration of exhausted CD39+ CD8 T cells from primary and metastatic sites of epithelial ovarian cancers. J Immunother Cancer. 2020 Dec;8(2):e001650. PMID:33335029

54. Bae K, Kim JH, Jung H, Kong SY, Kim YH, …, Yoon KA. A fusion of CD63-BCAR4 identified in lung adenocarcinoma promotes tumorigenicity and metastasis. Br J Cancer. 2021 Jan;124(1):290-298. PMID:33204025

53. Youk J*, Kim T*, Evans KV, Jeong Y-I, Hur Y, Hong SP, ..., Kim YT#, Koh GY#, Choi B-S#, Ju YS#, Lee JH#. Three-dimensional human alveolar stem cell culture models reveal infection response to SARS-CoV-2. Cell Stem Cell. 2020 Dec 3;27(6):905-919.e10. PMID:33142113


52. Lee JS, Yi K*, Ju YS, Shin EC. Effects of Cryopreservation and Thawing on Single-Cell Transcriptomes of Human T Cells. Immune Netw. 2020 Jul 15;20(4):e34. PMID: 32895621

51. Youk J*, An Y, Park S, Lee JK & Ju YS#. The genome-wide landscape of C:G > T:A polymorphism at the CpG contexts in the human population. BMC Genomics. 2020 Mar 30;21(1):270. PMID: 32228436

50. Yang JM, Park CS, Kim SH, Noh TW, Kim JH, Park S, ..., Ju YS & Kim I. Dll4 Suppresses Transcytosis for Arterial Blood-Retinal Barrier Homeostasis. Circ Res. 2020 Mar 13;126(6):767-783. PMID:32078435


49. Yuan Y, Ju YS*, Kim Y, Li J, Wang Y, Yoon CJ, ..., Liang H & PCAWG Consortium. Comprehensive molecular characterization of mitochondrial genomes in human cancers. Nat Genet. 2020 Feb 05. (Epub ahead of print). PMID:32024997


48. Rodriguez-Martin B, Alvarez EG, Baez-Ortega A, Zamora J, Supek F, ..., Tubio JMC & PCAWG Consortium. Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nat Genet. 2020 Feb 05. (Epub ahead of print). PMID:32024998

47. (conference paper) Poirier JT, George J, Owonikoko TK, Berns A, Brambilla E, ... & Oliver TG. New approaches to small cell lung cancer therapy : from the laboratory to the clinic. J Thorac Oncol. 2020 Feb 01. (Epub ahead of print). PMID:32018053

46. Lee JS*, An Y*, Yoon CJ*, Kim JY, Kim KH, ..., Lee EY# & Ju YS#. Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder. J Allergy Clin Immunol. 2019 Dec 02. (Epub ahead of print). PMID:31805313

45. Kim HD, Park S, Jeong S, Lee YJ, Lee H, ..., & Park SH. 4-1BB Delineates Distinct Activation Status of Exhausted Tumor-Infiltrating CD8+ T Cells in Hepatocellular Carcinoma. Hepatology. 2019 Jul 28. (Epub ahead of print) PMID:31353502

44. Lee JJ-K*, Park S*, Park H, Kim S, Lee J, ... , Ju YS# & Kim YT. Tracing Oncogene Rearrangements in the Mutational History of Lung Adenocarcinoma. Cell. 2019 Jun 13;177(7):1842-1857 PMID:31155235

43. Petljak M, Alexandrov LB, Brammeld JS, Price S, Wedge DC, … , & Stratton MR. Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis. Cell. 2019 Mar 7;176(6):1282-1294 PMID:30849372.

42. Park ES, Lee AR, Kim DH, Lee JH, Yoo JJ, …. & Kim KH. Identification of a quadruple mutation that confers tenofovir resistance in chronic hepatitis B patients. J Hepatol. 2019 Jun;70(6):1093-1102. PMID:30794889.

41. Choi W, Namkung J, Hwang I, Kim H, Lim A, ..., & Kim H. Serotonin signals through a gut-liver axis to regulate hepatic steatosis. Nat Commun. 2018 Nov 16;9(1):4824. PMID: 30446669

40. Kim HD, Song GW, Park S, Jung MK, Kim MH, ..., & Park SH. Association Between Expression Level of PD1 by Tumor-Infiltrating CD8+ T Cells and Features of Hepatocellular Carcinoma. Gastroenterology. 2018 Dec;155(6):1936-1950.e17. PMID:30145359

39. (review) Yi K*, Ju YS#. Patterns and mechanisms of structural variations in human cancer. Exp Mol Med. 2018 Aug 7;50(8):98. PMID:30089796

38. Lee JH, Lee JE, Kahng JY, Kim SH, Park JS, ..., & Lee JH. Human glioblastoma arises from subventricular zone cells with lower-level driver mutations. Nature. 2018 Aug;560(7717):243-247. PMID:30069053 

37. Lee J, Lee AJ, Lee JK*, Park J, Kwon Y, Park S, Chun H, Ju YS# & Hong D#. MUTALISK: a web-based somatic MUTation AnaLysIS toolKit for genomic, transcriptional and epigenomic signatures. Nucleic Acids Res. 2018 Jul 2;46(W1):W102-W108. PMID:29790943

36. Cho SY, Sung CO, Chae J, Lee J, Na D, …, & Lee C. Alterations in the Rho pathway contribute to Epstein-Barr virus-induced lymphomagenesis in immunosuppressed environments. Blood. 2018 Apr 26;131(17):1931-1941. PMID:29475961

35. Kim IK, KIM K, Lee E, Oh DS, Park CS, .., & Kim I. Sox7 promotes high-grade glioma by increasing VEGFR2-mediated vascular abnormality. J Exp Med. 2018. Mar 5;215(3):963-983. PMID:29444818

34. (review) Ju YS#. The mutational signatures and molecular alterations of bladder cancer. Transl Cancer Res. 2017;6(Supple 4):S689-S701. pdf file

33. Lee JK*, Lee J, Kim S, Kim S, Youk J, ... Kim TM# & Ju YS#. Clonal history and genetic predictors of transformation into small-cell carcinomas from lung adenocarcinomas. J Clin Oncol. 2017 Sep 10;35(26):3065-3074. PMID:28498782
(Introduced by editorials in the issue of J Clin Oncol. link)

32. Ju YS*, Martincorena I, Gerstung M, Petljak M, Alexandrov LB, ... & Stratton MR. Somatic mutations reveal asymmetric cellular dynamics in the early human embryo. Nature. 2017 Mar 30;543(7647):714-718. (initiated PMID:28329761


31. Lee JK*, Louzada S, An Y, Kim SY, Kim S, Youk J, Park S, ... & Ju YS#. Complex chromosomal rearrangements by single catastrophic pathogenesis in NUT midline carcinoma. Ann Oncol. 2017 Feb 14. 28(4):890-897. PMID:28203693

30. Alexandrov LB, Ju YS, Haase K, Van Loo P, Martincorena I, ... & Stratton MR. Mutational signatures associated with tobacco smoking in human cancer. Science. 2016 Nov 4;354(6312):618-622. PMID:27811275

29. Shlien A, Raine K, Fuligni F, Arnold R, Nik-Zainal S, Dronov S, Mamanova L, Rosic A, Ju YS, ... & Campbell PJ. Direct transcriptional consequences of somatic mutation in breast cancer. Cell Rep. 2016 Aug 16;16(7):2032-46. PMID:27498871

28. Kemper K, Krijgsman O, Kong X, Cornelissen-Steijger P, Shahrabi A, Weeber F, van der Velden DL, Bleijerveld OB, Kuilman T, Kluin RJ, Sun C, Voest EE, Ju YS, ... & Peeper DS. BRAF(V600E) kinase domain duplication identified in therapy-refractory melanoma patient-derived xenografts. Cell Rep. 2016 Jun 28;16(1):263-77. PMID:27320919

27. Nik-Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D,  Zou X, Martincorena I, Alexandrov LB, Martin S, Wedge DC, Van Loo P, Ju YS, ... & Stratton MR. Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature. 2016 Jun 2;534(7605):47-54. PMID:27135926

26. (review) Ju YS#. Intracellular mitochondrial DNA transfers to the nucleus in human cancer cells. Curr Opin Genet Dev. 2016 Jun;38:23-30. PMID:27010587

25. Kim J, Kim S, Ko S, In YH, Moon HG, Ahn SK, Kim MK, Lee M, Hwang JH, Ju YS, ... & Han W. Recurrent fusion transcripts detected by whole-transcriptome sequencing of 120 primary breast cancer samples. Genes Chromosomes Cancer. 2015 Nov;54(11):681-91. PMID:26227178

24. Yates LR, Gerstung M, Knappskog S, Desmedt C, Gundem G, Van Loo P, Aas T, Alexandrov LB, Larsimont D, Davies H, Li Y, Ju YS, ... & Campbell PJ . Subclonal diversification of primary breast cancer revealed by multiregion sequencing. Nat Med. 2015 Jul;21(7):751-9. PMID:26099045

23. Ju YS*, Tubio JM, Mifsud W, Fu B, Davies HR, ... & Stratton MR. Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells. Genome Res. 2015 Jun;25(6):814-24. PMID:25963125 

22. Ju YS*, Alexandrov LB, Gerstung M, Martincorena I, Nik-Zainal S, ... & Campbell PJ. Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer. eLife. 2014 Oct 1;3. PMID:25271376

21. Tubio JM, Li Y, Ju YS, Martincorena I, Cooke SL, ... & Campbell PJ. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes. Science. 2014 Aug 1;345(6196):1251343. PMID:25082706

20. Go H, Jung YJ, Kang HW, Park IK, Kang CH, Lee JW, Ju YS, ... & Kim YT. Diagnostic method for the detection of KIF5B-RET transformation in lung adenocarcinoma. Lung Cancer. 2013 Oct;82(1):44-50. PMID:23932363

19. Kim HJ, Yoo YJ, Ju YS, Lee S, Cho SI, ... & Seo JS. Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians. Obesity (Silver Spring). 2013 Nov;21(11):2405-12. PMID:23818313

18. Hong D, Lee J, Bleazard T, Jung H, Ju YS, ... & Seo JS. TIARA genome database: update 2013. Database (Oxford). 2013 Mar 20;2013:bat003. PMID:23515433

17. Bleazard T, Ju YS, Sung J & Seo JS. Fine-scale mapping of meiotic recombination in Asians. BMC Genet. 2013 Mar 8;14:19. PMID:23510153

16. Park H, Kim HJ, Lee S, Yoo YJ, Ju YS, ... & Seo JS. A family-based association study after genome-wide linkage analysis identified two genetic loci for renal function in a Mongolian population. Kidney Int. 2013 Feb;83(2):285-92. PMID:23254893

15. Park H, Lee S, Kim HJ, Ju YS, Shin JY, ... & Seo JS. Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population. J Med Genet. 2012 Dec;49(12):747-52. PMID:23118445

14. Seo JS*, Ju YS*, Lee WC*, Shin JY, Lee JK, ..., Kim YT. The transcriptional landscape and mutational profile of lung adenocarcinoma. Genome Res. 2012 Nov;22(11):2109-19. PMID:22975805

13. Hong D, Rhie A, Park SS, Lee J, Ju YS, ... & Seo JS. FX: an RNA-Seq analysis tool on the cloud. Bioinformatics. 2012 Mar 1;28(5):721-3. PMID:22257667

12. Paik SH, Kim HJ, Son HY, Lee S, Im SW, Ju YS, ... & Kim JI. Gene mapping study for constitutive skin color in an isolated Mongolian population. Exp Mol Med. 2012 Mar 31;44(3):241-9. PMID:22198297

11. Ju YS*, Lee WC, Shin JY, Lee S, Bleazard T, ... & Seo JS. A transforming KIF5B and RET gene fusion in lung adenocarcinoma revealed from whole-genome and transcriptome sequencing. Genome Res. 2012 Mar;22(3):436-45. PMID:22194472

10. Paik SH, Kim HJ, Lee S, Im SW, Ju YS, ... & Kwon OS. Linkage and association scan for tanning ability in an isolated Mongolian population. BMB Rep. 2011 Nov;44(11):741-6. PMID:22118541

9. Ju YS*, Kim JI*, Kim S*, Hong D, Park H, ... & Seo JS. Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals. Nat Genet. 2011 Jul 3;43(8):745-52. PMID:21725310

8. Hong D*, Park SS*, Ju YS*, Kim S, Shin JY, ... & Seo JS. TIARA: a database for accurate analysis of multiple personal genomes based on cross-technology. Nucleic Acids Res. 2011 Jan;39(Database issue):D883-8. PMID:21051338

7. (research highlight) Ju YS*, Yoo YJ, Kim JI & Seo JS. The first Irish genome and ways of improving sequence accuracy. Genome Biol. 2010;11(9):132. PMID:20815917

6. Ju YS*, Hong D*, Kim S*, Park SS, Kim S, ... & Seo JS. Reference-unbiased copy number variant analysis using CGH microarrays. Nucleic Acids Res. 2010 Nov;38(20):e190. PMID:20802225

5. Park H*, Kim JI*, Ju YS*, Gokcumen O, Mills RE, ... & Seo JS. Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet. 2010 May;42(5):400-5. PMID:20364138

4. Kim JI*, Ju YS*, Park H, Kim S, Lee S, ... & Seo JS. A highly annotated whole-genome sequence of a Korean individual. Nature. 2009 Aug 20;460(7258):1011-5. PMID:19587683

3. Lee JE, Park H, Ju YS, Kwak M, Kim JI, ... & Seo JS. Higher mitochondrial DNA copy number is associated with lower prevalence of microalbuminuria. Exp Mol Med. 2009 Apr 30;41(4):253-8. PMID:19299914

2. Ju YS*, Park H, Lee MK, Kim JI, Sung J, ... & Seo JS. A genome-wide Asian genetic map and ethnic comparison: the GENDISCAN study. BMC Genomics. 2008 Nov 25;9:554. doi: 10.1186/1471-2164-9-554. PMID:19025666

1. Gombojav B, Park H, Kim JI, Ju YS, Sung J, ... & Seo JS. Heritability and linkage study on heart rates in a Mongolian population. Exp Mol Med. 2008 Oct 31;40(5):558-64. PMID:18985014

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