| 1998 | | A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens. | 이은소 |
| 2012 | | A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V | 김옥화 |
| 2001 | | Activated cAMP-response element-binding protein regulates neuronal expression of presenilin-1. | 이영돈 |
| 2005 | | Association analysis of signal transducer and activator of transcription 4 (STAT4) polymorphisms with asthma. | 박해심 |
| 2013 | | Characterization of mutations in multi- and extensive drug resistance among strains of Mycobacterium tuberculosis clinical isolates in Republic of Korea. | 황성철 |
| 2004 | | Cloning and characterization of an immunoreactive gene encoding a calcium-binding protein from Naegleria fowleri. | 김경민, 박선, 송경주, 신호준, 정석률 |
| 1999 | | Cloning and characterization of the promoter region of the Wilson disease gene. | 한시훈 |
| 2011 | | Comparison of multiplex restriction fragment mass polymorphism and sequencing analyses for detecting entecavir resistance in chronic hepatitis B. | 조성원 |
| 2005 | | Complete sequence of a gene encoding KAR3-related kinesin-like protein in Candida albicans. | 김완기 |
| 2004 | | DD1.5k, the gene preferentially expressed in bloodstream isolates of vancomycin-resistant Enterococcus faecium. | 이위교 |
| 1999 | | Expression of rat BTG(3) gene, Rbtg3, is regulated by redox changes. | 이명숙, 임인경 |
| 2011 | | Expression of tyrosine hydroxylase is epigenetically regulated in neural stem cells. | 이명애 |
| 2007 | | First case of human babesiosis in Korea: detection and characterization of a novel type of Babesia sp. (KO1) similar to ovine babesia. | 박일중, 조성란 |
| 2011 | | First three reported cases of nosocomial fungemia caused by Candida auris. | 이위교 |
| 2019 | | Functional Genomic Complexity Defines Intratumor Heterogeneity and Tumor Aggressiveness in Liver Cancer | 권소미, 우현구 |
| 2007 | | Genetic rearrangements of TN1546-like elements in vancomycin-resistant Enterococcus faecium isolates collected from hospitalized patients over a seven-year period. | 박일중, 이위교, 임영애, 조성란 |
| 2020 | | Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing | 금창대, 노정기, 이해상, 정선용, 정재연, 황진순 |
| 2014 | | Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. | 이기영, 임신영, 정선용 |
| 2013 | | IDH1 mutations in oligodendroglial tumors: comparative analysis of direct sequencing, pyrosequencing, immunohistochemistry, nested PCR and PNA-mediated clamping PCR. | 이다근 |
| 2019 | | Investigating the Feasibility of Targeted Next-Generation Sequencing to Guide the Treatment of Head and Neck Squamous Cell Carcinoma | 이현우 |
| 2013 | | Isolation and characterization of a cryptic plasmid, pMBLR00, from Leuconostoc mesenteroides subsp. mesenteroides KCTC 3733. | 이정민 |
| 2010 | | KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect. | 고정민, 황진순 |
| 2017 | | Makorin ring finger 3 gene analysis in Koreans with familial precocious puberty | 이해상 |
| 2007 | | Molecular cloning and characterization of a cytosolic heat shock protein 70 from Naegleria fowleri. | 권대호, 박선, 송경주, 신호준 |
| 2001 | | Molecular cloning and characterization of a gene encoding a 13.1 kDa antigenic protein of Naegleria fowleri. | 김형일, 박선, 신호준 |
| 2020 | | Molecular detection of free-living amoebae from Namhangang (southern Han River) in Korea | 손혜진, 신호준 |
| 2010 | | Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. | 김옥화 |
| 2007 | | Novel complex class 1 integron bearing an ISCR1 element in an Escherichia coli isolate carrying the blaCTX-M-14 gene. | 이위교 |
| 2017 | | Pan-cancer analysis of systematic batch effects on somatic sequence variations | 우현구 |
| 2004 | | Presence of human mycoplasma DNA in gastric tissue samples from Korean chronic gastritis patients. | 김영배, 함기백 |
| 2010 | | Prevalence of the VNIc genotype of Cryptococcus neoformans in non-HIV-associated cryptococcosis in the Republic of Korea. | 이위교, 최영화 |
| 2019 | | Rapid diagnosis of bacterial meningitis by nanopore 16S amplicon sequencing: A pilot study | 김태준 |
| 2016 | | Resistance Mechanisms and Clinical Features of Fluconazole-Nonsusceptible Candida tropicalis Isolates Compared with Fluconazole-Less-Susceptible Isolates | 이위교 |
| 2019 | | Streptococcus koreensis sp. nov., Isolated from Human Subgingival Dental Plaque of Periodontitis Lesion | 지숙 |
| 2012 | | The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia | 박준은 |
| 2007 | | Three cases of xanthogranulomatous epididymitis caused by E. coli. | 주희재 |
| 2014 | | TSH signaling overcomes B-RafV600E-induced senescence in papillary thyroid carcinogenesis through regulation of DUSP6. | 김장희, 박태준, 소의영, 이정훈, 한재호 |
| 2012 | | Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence | 손영배 |
| 2014 | | Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA. | 정주용 |
| 2011 | | Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. | 김옥화 |
