KAIST ​유전체 돌연변이 모자이시즘 연구실

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100. An Y, Lee JH, Lim J, Youk J, Park S, …, Koo BK#, Ju YS#. APOBEC3A drives deaminase mutagenesis in human gastric epithelium. Genome Res. 2025 Oct 1;35(10):2158-2172.

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99. Choi SR*, Yoon CJ*, Lee JS, Ju YS, Lee EY. Identification of pathogenic MEFV variants in Korean patients with familial Mediterranean fever via whole-genome sequencing: a case report. J Rheum Dis. 2025 Oct 1;32(4):292-297.

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99. Lee SY, Lee S, Park S, Jung SH, Yun Y, …, Chae JH. Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach. Cell Rep Med. 2025 Jul 15;6(7):102206.

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97. Kim D, Yoon JH, Bae H, Hwang S, Seo GH, …, Lee BH. Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome. J Hum Genet. 2025 May;70(5):243-248.

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96. Lee S, Roh J, Park JS, Tuncay IO, Lee W, …, Kwon M. Target-Enhanced Whole-Genome Sequencing (TE-WGS) Shows Clinical Validity Equivalent to Commercially Available Targeted Oncology Panel. Cancer Res Treat. 2025 Apr;57(2):350-361

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95. Li X, Kim HJ, Yoo J, Lee Y, Nam CH, …, Lee JH. Distant origin of glioblastoma recurrence: neural stem cells in the subventricular zone serve as a source of tumor reconstruction after primary resection. Mol Cancer. 2025 Mar 4;24(1):64.

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94. Park S, Park S, Kim TM, Kim S, Koh J, …, Heo DS. Resistance mechanisms of EGFR tyrosine kinase inhibitors, in EGFR exon 20 insertion-mutant lung cancer. Eur J Cancer. 2024 Sep;208:114206.

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93. Yoon JH, Hwang S, Bae H, Kim D, Seo GH, …, Lee BH. Clinical and molecular characteristics of Korean patients with Kabuki syndrome. J Hum Genet. 2024 Sep;69(9):417-423.

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92. Kim R, Kim S, Oh BB, Yu WS, Kim CW, …, Ju YS#, Kwon M. Clinical application of whole-genome sequencing of solid tumors for precision oncology. Exp Mol Med. 2024 Aug;56(8):1856-1868.

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91. Jeong BK, Choi WI, Choi W, Moon J, Lee WH, …, Kim H. A male mouse model for metabolic dysfunction-associated steatotic liver disease and hepatocellular carcinoma. Nature Communcations. 2024 Aug 2;15(1):6506. PMID:39090079

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90. Kim IB, Kim MH, Jung S, Kim WK, Lee J, ..., Lee JH. Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes. Exp Mol Med. 2024 Aug;56(8):1750-1762. PMID:39085355

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89. An J*, Nam CH, Kim R, Lee Y, Won H, …, Ju YS#. Mitochondrial DNA mosaicism in normal human somatic cells. Nature Genetics. 2024 Aug;56(8):1665-1677. PMID:39039280

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88. Yoon C*, Nam CH, Kim T, Lee JS, Kim R, …, Cho D#, Choi JS#, Ju YS#. Whole-genome sequences reveal zygotic composition in chimeric twins. HGG Advances. 2024 Jul 18;5(3):100301. PMID:38773773

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87. Youk J*, Kwon HW*, Lim J*, Kim E*, Kim T*, …, Chang JH#, Kim KS#, Son TG#, Ju YS#. Quantitative and qualitative mutational impact of ionizing radiation on normal cells. Cell Genomics. 2024 Feb 14;4(2):100499. PMID:38359788  

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86. Lee SE, Park S, Yi S, Choi NR, Lim MA, ..., Kang YE. Unraveling the role of the mitochondrial one-carbon pathway in undifferentiated thyroid cancer by multi-omics analyses. Nature Communications. 2024 Feb 8;15(1):1163. PMID:38331894

 

85. Kim YJ, Park HS, Youk J, Han JW, Byeon SH, ..., Lee CS. Subset of retinoblastoma tumours is associated with BRCA1/2 mutations. Br J Ophthalmol. 2023 Oct 13:bjo-2023-323388. PMID:37833038

 

84. Bruzos AL, Santamarina M, García-Souto D, Díaz S, Rocha S, …, Tubio JMC. Somatic evolution of marine transmissible leukemias in the common cockle, Cerastoderma edule. Nature Cancer. 2023 Nov;4(11):1575-1591. PMID:37783803

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83. Cho S, Park S, Lee JS, Ju YS, Choi YJ, Lee S. Adenosine Deaminase 2 Deficiency Caused by Biallele Variants Including Splicing Variant: The First Case in Korea. J Rheum Dis. 2022 Oct 1;29(4):254-260. PMID:37476427

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82. Nam CH*, Youk J*, Kim JY, Lim J, Park JW, ..., Kwon HW#, Kim MJ#, Ju YS#. Widespread somatic L1 retrotransposition in normal colorectal epithelium. Nature. 2023 May; 617(7961):540-547. PMID:37165195

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81. Jikuya R, Johnson TA, Maejima K, An J, Ju YS, ..., Hasumi H. Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma. EBioMedicine. 2023 Jun;92:104596. PMID:37182269 

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80. Hong Y, Kim HJ, Park S, Yi S, Lim MA, ..., Kang YE. Single Cell Analysis of Human Thyroid Reveals the Transcriptional Signatures of Aging. Endocrinology. 2023 Feb 11;164(4):bqad029. PMID:36791033

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79. Kim JH, Park JH, Lee J, Park JW, Kim HJ, ..., Lee JH. Ultra-Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II. Ann Neurol. 2023 Jun;93(6):1082-1093. PMID:36700525

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78. Yoon C*, Kim S, Nam CH, Lee JH, Park JW, …, Griffith OL#, Ju YS#. Estimation of intrafamilial DNA contamination in family trio genome sequencing using Mendelian inconsistencies. Genome Res. 2022 Dec; 32(11-12):2134-2144. PMID:36617634

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77. Kim T*, Min KI*, Yang J, Kim JW, Cho J, …, Na KJ#, Lee J-Y#, Ju YS#. Relative infectivity of the SARS-CoV-2 Omicron variant in human alveolar cells. iScience. 2022 Dec;25(12):105571. PMID:36406862

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76. Lomakin A, Svedlund J, Strell C, Gataric M, Shmatko A, …, Yates LR. Spatial genomics maps the structure, nature and evolution of cancer clones. Nature. 2022 Nov;611(7936):594-602. Epub 2022 Nov 9. PMID:36352222

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75. Park CS, Kim SH, Yang HY, Kim JH, Schermuly RT, …, Kim I. Sox17 Deficiency Promotes Pulmonary Arterial Hypertension via HGF/c-Met Signaling. Circ Res. 2022 Oct 28;131(10):792-806. PMID:36205124 

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74. Johnson TA, Maekawa S, Fujita M, An J, Ju YS, …, Nakagawa H. Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis. Hum Mol Genet. 2022 Aug 18:ddac180. Online ahead of print. PMID:35981075

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73. Kim IB, Lee T, Lee J, Kim J, Lee S, ..., Lee JH. Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder. Mol Psychiatry. 2022 Nov;27(11):4680-4694. PMID:35840799

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72. Jeong D, Kim SM, Min BJ, Kim JH, Ju YS, …, Lee DS. Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations. Sci Rep. 2022 May 7;12(1):7515. PMID:35525891

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71. Lee JH, Kim S, Han S, Min J, Caldwell B, …, Kim JK. p57Kip2 imposes the reserve stem cell state of gastric chief cells. Cell Stem Cell. 2022 May 5;29(5):826-839.e9. PMID:35523142

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70. Seo J, Kim H, Min KI, Kim C, Kwon Y, …, Kim J. Weight-bearing activity impairs nuclear membrane and genome integrity via YAP activation in plantar melanoma. Nat Commun. 2022 Apr 25;13(1):2214. PMID:35468978

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69. Kwon SG, Bae GH, Choi JH, Mali NM, Jun MS, …, Oh JW. Asymmetric Contribution of Blastomere Lineages of First Division of the Zygote to Entire Human Body Using Post-Zygotic Variants. Tissue Eng Regen Med. 2022 Aug;19(4):809-821. PMID:35438457

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68. Cho YW, Min DW, Kim HP, An Y, Kim S, …, Kim TY. Patient-derived organoids as a preclinical platform for precision medicine in colorectal cancer. Mol Oncol. 2022 Jun;16(12):2396-2412. PMID:34850547

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67. (Review) Youk J*, Kwon HW*, Kim R, Ju YS#. Cdissecting single-cell genomes through the clonal organoid technique. Exp Mol Med. 2021 Oct;53(10):1503-1511. PMID:34663940

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66. Song U, Ryu YH, Hong K, Shim SY, Park S, …, Lee S. Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report. BMC Pediatr. 2021 Oct 16;21(1):453. PMID:34654403

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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.

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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.

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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

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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

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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

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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 

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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

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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

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

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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)

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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. PMID:28329761

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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

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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

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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

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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

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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

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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

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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

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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

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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 

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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