마크로젠 사업보고서 (2025.12)
4. 연구개발 실적(상세)

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No.	논문명(SCI급)	저널	연도

1	DNA chip data mining	Experimental and Molecular Medicine	2001

2	Birth of parthenogenetic mice that can develop to adulthood	Nature	2004

3	The Genome Sequence of the ethanologenic bacterium Zymomonas mobilis ZM4	Nature biotechnology	2005

4	The genome sequence of Xanthomonas oryzae pathovar oryzae KACC10331, the bacterial blight pathogen of rice	Nucleic Acids Research	2005

5	Sequence-Level Analysis of the Diploidization Process in the Triplicated Flowering Locus C Region of Brassica rapa	Plant Cell	2006

6	Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease	Journal of Pediatric Surgery	2006

7	New variations of the EDNRB gene and its association with sporadic Hirschsprung disease in Korea	Journal of Pediatric Surgery	2006

8	Coordinated change of a ratio of methylated H3-lysine 4 or acetylated H3 to acetylated H4 and DNA methylation is associated with tissue-specific gene expression in cloned pig	Experimental and Molecular Medicine	2007

9	Identification of origin of unknown derivative chromosomes by array-based comparative genomic hybridization using pre- and postnatal clinical samples	Journal of Human Genetics	2007

10	Genome-wide combination profiling of copy number and methylation offers an approach for deciphering misregulation and development in cancer cells	Gene	2008

11	Identification of senescence-associated genes in human bone marrow mesenchymal stem cells	Biochemical and Biophysical Research Communication	2008

12	Higher mitochondrial DNA copy number is associated with lower prevalence of microalbuminuria	Experimental and Molecular Medicine	2009

13	A highly annotated whole-genome sequence of a Korean individual	Nature	2009

14	Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing	Nature Genetics	2010

15	Association of matrix metalloproteinase-3 with cardiogenic activity during Noggin-induced differentiation of mouse embryonic stem cells	International Journal of Cardiology	2010

16	Reference-unbiased copy number variant analysis using CGH microarrays	Nucleic Acids Research	2010

17	Draft Genome Sequence of Streptomyces clavuligerus NRRL 3585, Producer of Diverse Secondary Metabolites	Journal of Bacteriology	2010

18	TIARA: A database for accurate analysis of multiple personal genomes based on cross-technology	Nucleic Acids Research	2011

19	Tissue response to poly(L-lactic acid)-based blend with phospholipid polymer for biodegradable cardiovascular stents	Biomaterials	2011

20	Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals	Nature Genetics	2011

21	Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform	Journal of Medical Genetics	2011

22	A transforming KIF5B and RET gene fusion in lung adenocarcinoma revealed from whole-genome and transcriptome sequencing	Genome Research	2011

23	Copy Number Variation of Age-Related Macular Degeneration Relevant Genes in the Korean Population	PLoS One	2012

24	Genome sequence of Paenibacillus terrae HPL-003, a xylanase-producing bacterium isolated from soil found in forest residue	Journal of Bacteriology	2012

25	FX: an RNA-Seq analysis tool on the cloud	Bioinformatics	2012

26	Epidemiologic Characteristics of Intraocular Pressure in the Korean and Mongolian Populations: The Healthy Twin and the GENDISCAN Study	Ophthalmology	2012

27	Complete genome sequence of Enterobacter aerogenes KCTC 2190	Journal of Bacteriology	2012

28	Complete genome sequence of Klebsiella oxytoca KCTC 1686, used in production of 2,3-butanediol	Journal of Bacteriology	2012

29	Complete genome sequence of the 2,3-butanediol-producing Klebsiella pneumoniae strain KCTC 2242	Journal of Bacteriology	2012

30	Complete genome sequence of Brucella canis strain HSK A52141, isolated from the blood of an infected dog	Journal of Bacteriology	2012

31	The transcriptional landscape and mutational profile of lung adenocarcinoma	Genome Research	2012

32	Complete genome sequence of Brucella abortus A13334, a new strain isolated from the fetal gastric fluid of dairy cattle	Journal of Bacteriology	2012

33	Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population	Journal of Medical Genetics	2012

34	A family-based association study after genome-wide linkage analysis identified two genetic loci for renal function in a Mongolian population	Kidney International	2012

35	Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis	PLoS One	2013

36	Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology	Neuromuscular Disorders	2013

37	Targeted Sequencing of Cancer-Related Genes in Colorectal Cancer Using Next-Generation Sequencing	PLoS One	2013

38	Identification of a recurrent transforming UBR5-ZNF423 fusion gene in EBV-associated nasopharyngeal carcinoma	Journal of Pathology	2013

39	Diagnostic method for the detection of KIF5B-RET transformation in lung adenocarcinoma	Lung Cancer	2013

40	Draft genome sequence of Rubidibacter lacunae strain KORDI 51-2(T), a cyanobacterium isolated from seawater of Chuuk lagoon	Standards in Genomic Sciences	2013

41	Gene expression profiling by mRNA sequencing reveals increased expression of mune/inflammation-related genes in the hippocampus of individuals with schizophrenia	Translational Psychiatry	2013

42	Combined Linkage and Association Analyses Identify a Novel Locus for Obesity Near PROX1 in Asians	Obesity	2013

43	Predictive Efficacy of Low Burden EGFR Mutation Detected by Next-Generation Sequencing on Response to EGFR Tyrosine Kinase Inhibitors in Non-Small-Cell Lung Carcinoma	PLoS One	2013

44	Somatic deletions implicated in functional diversity of brain cells of individuals with schizophrenia and unaffected controls	Scientific Reports	2014

45	Comprehensive analysis to improve the validation rate for single nucleotide variants detected by next-generation sequencing	PLoS One	2014

46	RNA editing in RHOQ promotes invasion potential in colorectal cancer	The Journal of Experimental Medicine	2014

47	Whole genome and global gene expression analyses of the model mushroom Flammulina velutipes reveal a high capacity for lignocellulose degradation	PLoS One	2014

48	RNA sequencing identifies novel markers of non-small cell lung cancer	Lung Cancer	2014

49	Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing	Gene	2014

50	Improvement of 2,3-butanediol yield in Klebsiella pneumoniae by deletion of the pyruvate formate-lyase gene	Applied and Environmental Microbiology	2014

51	Novel fusion transcripts in human gastric cancer revealed by transcriptome analysis	Oncogene	2014

52	An epigenomic roadmap to induced pluripotency reveals DNA methylation as a reprogramming modulator	Nature Communications	2014

53	Small RNA changes en route to distinct cellular states of induced pluripotency	Nature Communications	2014

54	Divergent reprogramming routes lead to alternative stem-cell states	Nature	2014

55	Genome-wide characterization of the routes to pluripotency	Nature	2014

56	Phase II clinical and exploratory biomarker study of dacomitinib in patients with recurrent and/or metastatic squamous cell carcinoma of head and neck	Clinical Cancer Research	2015

57	Differential expression of microRNAs and their target genes in non-small-cell lung cancer	Molecular Medicine Reports	2015

58	Complete genome sequence of Klebsiella oxytoca M1, isolated from Manripo area of South Korea	Journal of Bacteriology	2015

59	Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy	Nature Medicine	2015

60	Identification of differentially-expressed genes by DNA methylation in cervical cancer	Oncology Letters	2015

61	The synergistic effect of combination temozolomide and chloroquine treatment is dependent on autophagy formation and p53 status in glioma cells.	Cancer Letters	2015

62	Noninvasive prenatal diagnosis of duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus	Clinical Chemistry	2015

63	The influence of budA deletion on glucose metabolism related in 2,3-butanediol production by Klebsiella pneumoniae	Enzyme and Microbial Technology	2015

64	The genome of Diuraphis noxia, a global aphid pest of small grains	BMC Genomics	2015

65	Family-Based Association Study of Pulmonary Function in a Population in Northeast Asia	PLoS One	2015

66	Recurrent fusion transcripts detected by whole-transcriptome sequencing of 120 primary breast cancer samples	Genes Chromosomes Cancer	2015

67	Comparative whole genome transcriptome and metabolome analyses of five Klebsiella pneumonia strains	Bioprocess and Biosystems Engineering	2015

68	Detection of Novel Genomic Markers for Predicting Prognosis in Hepatocellular Carcinoma Patients by Integrative Analysis of Copy Number Aberrations and Gene Expression Profiles: Results from a Long-Term Follow-Up	DNA and Cell Biology	2016

69	Isolation of Middle East Respiratory Syndrome Coronavirus from a Patient of the 2015 Korean Outbreak	Journal of Korean Medical Science	2016

70	Blood Transcriptome Profiling in Myasthenia Gravis Patients to Assess Disease Activity: A Pilot RNA-seq Study	Experimental Neurobiology	2016

71	miR-204 downregulates EphB2 in aging mouse hippocampal neurons	Aging Cell	2016

72	Prognostic effects of TERT promoter mutations are enhanced by coexistence with BRAF or RAS mutations and strengthen the risk prediction by the ATA or TNM staging system in differentiated thyroid cancer patients	Cancer	2016

73	Identification of NUCKS1 as a putative oncogene and immunodiagnostic marker of hepatocellular carcinoma	Gene	2016

74	Comprehensive Analysis of the Transcriptional and Mutational Landscape of Follicular and Papillary Thyroid Cancers	PLoS Genetics	2016

75	De novo assembly and phasing of a Korean human genome	Nature	2016

76	Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing	International Neurourology Journal	2016

77	Birth of an 'Asian cool' reference genome: AK1	BMB Reports	2016

78	Deleterious effects in reproduction and developmental immunity elicited by pulmonary iron oxide nanoparticles	Environmental Research	2017

79	Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations	Nature Communications	2017

80	Analysis of Fifty Hotspot Mutations of Lung Squamous Cell Carcinoma in Never-smokers	Journal of Korean Medical Science	2017

81	A Core Regulatory Circuit in Glioblastoma Stem Cells Links MAPK Activation to a Transcriptional Program of Neural Stem Cell Identity	Scientific Reports	2017

82	The microbiome of the lung and its extracellular vesicles in nonsmokers, healthy smokers and COPD patients	Experimental and Molecular Medicine	2017

83	Altered nucleocytoplasmic proteome and transcriptome distributions in an in vitro model of amyotrophic lateral sclerosis	PLoS One	2017

84	The Tea Tree Genome Provides Insights into Tea Flavor and Independent Evolution of Caffeine Biosynthesis	Molecular Plant	2017

85	TLR sensing of bacterial spore-associated RNA triggers host immune responses with detrimental effects	The Journal of Experimental Medicine	2017

86	Evaluation of a novel approach to circulating tumor cell isolation for cancer gene panel analysis in patients with breast cancer	Oncology Letters	2017

87	Transcriptome analysis of airborne PM2.5-induced detrimental effects on human keratinocytes	Toxicology Letters	2017

88	The caterpillar fungus, Ophiocordyceps sinensis, genome provides insights into highland adaptation of fungal pathogenicity	Scientific Reports	2017

89	Transcriptome analyses of Chronic Traumatic Encephalopathy show alterations in protein posphatase expression associated with tauopathy	Experimental and Molecular Medicine	2017

90	Whole-genome resequencing of 292 pigeonpea accessions identifies genomic regions associated with domestication and agronomic traits	Nature Genetics	2017

91	Cancer gene panel analysis of cultured circulating tumor cells and primary tumor tissue from patients with breast cancer	Oncology Letters	2017

92	Genome-wide association and expression quantitative trait loci studies identify multiple susceptibility loci for thyroid cancer	Nature Communications	2017

93	Optimized detection of insertions/deletions (INDELs) in whole-exome sequencing data	PLoS One	2017

94	Spatiotemporal expression patterns of clusterin in the mouse inner ear	Cell and Tissue Research	2017

95	Genome-Based Reclassification of Fusobacterium nucleatum Subspecies at the Species Level	Current Microbiology	2017

96	Detection of somatic variants and EGFR mutations in cell-free DNA from non-small cell lung cancer patients by ultra-deep sequencing using the ion ampliseq cancer hotspot panel and droplet digital polymerase chain reaction	PLoS one	2017

97	Genomic landscape of ovarian clear cell carcinoma via whole exome sequencing	Gynecologic Oncology	2018

98	Small molecule-mediated reprogramming of human hepatocytes into bipotent progenitor cells	Journal of Hepatology	2018

99	Transcriptome Network Analysis Reveals Aging-Related Mitochondrial and Proteasomal Dysfunction and Immune Activation in Human Thyroid	Thyroid	2018

100	LYL1 gene amplification predicts poor survival of patients with uterine corpus endometrial carcinoma: analysis of the Cancer genome atlas data	BMC Cancer	2018

101	Whole exome and transcriptome analysis intergrated with microenvironmental immune signatures of lung aquamous cell carcinoma	Cancer immunology research	2018

102	Cancer panel analysis of circulating tumor cells in patients with breast cancer	Oncology Letters	2018

103	Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis	Scientific Reports	2018

104	Signatures of photo-aging and intrinsic aging in skin were revealed by transcriptome network analysis	Aging (Albany NY)	2018

105	Radon Exposure-induced Genetic Variations in Lung Cancers among Never Smokers.	Journal of Korean Medical Science	2018

106	Development of a common platform for the noninvasive prenatal diagnosis of X-linked diseases	Prenatal Diagnosis	2018

107	Identification of novel mutations in FFPE lung adenocarcinomas using DEPArray sorting technology and next-generation sequencing	Journal of Applied Genetics	2018

108	Comprehensive transcriptomic and genomic profiling of subtypes of follicular variant of papillary thyroid carcinoma	Thyroid	2018

109	Somatic mutational profiles of stage II and III gastric cancer according to tumor microenvironment immune type	Genes Chromosomes Cancer	2018

110	Cholesterol burden in the liver induces mitochondrial dynamic changes and resistance to apoptosis	Journal of Cellular Physiology	2018

111	Comprehensive analysis of the tumor immune micro-environment in non-small cell lung cancer for efficacy of checkpoint inhibitor	Scientific Reports	2018

112	Prevalence and oncologic outcomes of BRCA 1/2 mutations in unselected triple-negative breast cancer patients in Korea	Breast Cancer Research and Treatment	2018

113	Thymosin β-4 is a novel regulator for primary cilium formation by nephronophthisis 3 in HeLa human cervical cancer cells.	Scientific Reports	2019

114	Interaction of BRAF-induced ETS factors with mutant TERT promoter in papillary thyroid cancer.	Endocrine-Related Cancer	2019

115	Whole Genome Sequencing and Re-sequencing of the Sable Antelope (Hippotragus niger): A Resource for Monitoring Diversity in ex Situ and in Situ Populations	G3-genes genomes genetics	2019

116	Integrative Analysis of Genomic and Transcriptomic Characteristics Associated with Progression of Aggressive Thyroid Cancer	Nature Communications	2019

117	High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer	Scientific Reports	2019

118	Transglutaminase 2 induces intrinsic EGFR-TKI resistance in NSCLC harboring EGFR sensitive mutations	American Journal of Cancer Research	2019

119	CXCL16 positively correlated with M2-macrophage infiltration, enhanced angiogenesis, and poor prognosis in thyroid cancer	Scientific Reports	2019

120	NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants	Genome Medicine	2019

121	The GenomeAsia 100K Project enables genetic discoveries across Asia	Nature	2019

122	Biallelic Deletion of Pxdn in Mice Leads to Anophthalmia and Severe Eye Malformation	International Journal of Molecular Sciences	2019

123	Identification of African-Specific Admixture between Modern and Archaic Humans	American Journal of Human Genetics	2019

124	Legacy Data Confound Genomics Studies	Molecular Biology Evolution	2020

125	Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts	American Journal of Human Genetics	2020

126	Virus Isolation from the First Patient with SARS-CoV-2 in Korea	Journal Of Korean Medical Science	2020

127	Recent Improvements in Genomic and Transcriptomic Understanding of Anaplastic and Poorly Differentiated Thyroid Cancers	Endocrinology Metabolism	2020

128	BRAFV600E Transduction of an SV40-Immortalized Normal Human Thyroid Cell Line Induces Dedifferentiated Thyroid Carcinogenesis in a Mouse Xenograft Model	Thyroid	2020

129	High polymerase ε expression associated with increased CD8+T cells improves survival in patients with non-small cell lung cancer	PLoS One	2020

130	A newly developed capture-based sequencing panel for genomic assay of lung cancer	Genes Genomics	2020

131	Genomic and Transcriptomic Characteristics According to Size of Papillary Thyroid Microcarcinoma	Cancers (Basel)	2020

132	Alterations of transcriptome signatures in head trauma-related neurodegenerative disorders	Scientific Reports	2020

133	Hepatic stellate cell specific knockout of transcriptional intermediary factor 1γ aggravates liver fibrosis	Journal of Experimental Medicine	2020

134	The tumor immune microenvironmental analysis of 2,033 transcriptomes across 7 cancer types	Scientific Reports	2020

135	Transcriptomic and biochemical analyses of the accumulation of sucrose in mungbean (Vigna radiata (L.) Wilczek) leaves after pod removal	Theorotical of Applied Genetics	2020

136	The Clinical Significance of RAS, PIK3CA, and PTEN Mutations in Non-Small Cell Lung Cancer Using Cell-Free DNA	Journal of Clinical Medicine	2020

137	Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease	Nature Genetics	2020

138	Analysis of the serial circulating tumor cell count during neoadjuvant chemotherapy in breast cancer patients	Scientific Reports	2020

139	Comprehensive genetic features of gastric mixed adenoneuroendocrine carcinomas and pure neuroendocrine carcinomas	Journal of Pathology	2020

140	IDH-wildtype secondary glioblastoma arising in IDH-mutant diffuse astrocytoma: a case report	British Journal Of Neurosurgery	2020

141	Targeted Next-Generation Sequencing Analysis for Recurrence in Early-Stage Lung Adenocarcinoma	Annals Of Surgical Oncology	2020

142	A High Quality Asian Genome Assembly Identifies Features of Common Missing Regions	Genes (Basel)	2020

143	Molecular Signature of Extracellular Vesicular Small Non-Coding RNAs Derived from Cerebrospinal Fluid of Leptomeningeal Metastasis Patients: Functional Implication of miR-21 and Other Small RNAs in Cancer Malignancy	Cancers (Basel)	2021

144	Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program	Nature	2021

145	Integrative Genomic and Transcriptomic Analyses of Tumor Suppressor Genes and Their Role on Tumor Microenvironment and Immunity in Lung Squamous Cell Carcinoma	Frontiers In Immunology	2021

146	Direct conversion of adult human fibroblasts into functional endothelial cells using defined factors	Biomaterials	2021

147	Genomic landscape of extraordinary responses in metastatic breast cancer	Communication Biology	2021

148	Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices	Nature Communications	2021

149	Publisher Correction: Analysis of the serial circulating tumor cell count during neoadjuvant chemotherapy in breast cancer patients	Scientific reports	2021

150	Evaluation of low-pass genome sequencing in polygenic risk score calculation for Parkinson's disease	Human genomics	2021

151	ClinPharmSeq: A targeted sequencing panel for clinical pharmacogenetics implementation	PloS one	2022

152	Clinical validity of oncogenic driver genes detected from circulating tumor DNA in the blood of lung cancer patients	Translational lung cancer research	2023

153	A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants	Science advances	2023

154	Single-Cell and Spatial Transcriptome Analysis of Dermal Fibroblast Development in Perinatal Mouse Skin: Dynamic Lineage Differentiation and Key Driver Genes	The Journal of investigative dermatology	2023

155	Effector Function Characteristics of Exhausted CD8+ T-cell in Microsatellite Stable and Unstable Gastric Cancer	Cancer research and treatment	2024

156	Longitudinal Comparative Analysis of Circulating Tumor DNA and Matched Tumor Tissue DNA in Patients with Metastatic Colorectal Cancer Receiving Palliative First-Line Systemic Anti-Cancer Therapy	Cancer research and treatment	2024

157	Multiplex analysis for the identification of plasma protein biomarkers for predicting lung cancer immunotherapy response	Therapeutic Advances in Medical Oncology	2024

158	Mapping the Pharmacogenetic Landscape in a Ugandan Population: Implications for Personalized Medicine in an Underrepresented Population	Clinical Pharmacology Therapeutics	2024

159	MUC16 as a serum-based prognostic indicator of prometastatic gastric cancer	Scientific Reports	2024

160	T cell receptor clonotype in tumor microenvironment contributes to intratumoral signaling network in patients with colorectal cancer	Immunologic Research	2024

161	Pharmacogenetic analysis of structural variation in the 1000 genomes project using whole genome sequences	Scientific Reports	2024

162	Exploring the importance of predicted camel NRAP exon 4 for environmental adaptation using a mouse model	Animal Genetics	2024

163	PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation	Nature Communications	2025

164	Integrated multi-omics reveals different host crosstalk of atopic dermatitis-enriched Bifidobacterium longum Strains	NPJ Biofilms Microbiomes	2025