| 1997 | | A 5-nucleotide insertion in the antithrombin gene causing a quantitative antithrombin deficiency. | 한시훈 |
| 2014 | | A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation. | 정주용 |
| 2017 | | A Role of the ABCC4 Gene Polymorphism in Airway Inflammation of Asthmatics | 김승현, 박해심, 반가영 |
| 2019 | | Amino acid signatures of HLA Class-I and II molecules are strongly associated with SLE susceptibility and autoantibody production in Eastern Asians | 서창희 |
| 2012 | | AMPK γ2 subunit gene PRKAG2 polymorphism associated with cognitive impairment as well as diabetes in old age | 홍창형 |
| 2021 | | Apolipoprotein E ε4 is not associated with cognitive impairment in patients with idiopathic REM sleep behavior disorder | 김태준 |
| 2010 | | Association analysis of N-acetyl transferase-2 polymorphisms with aspirin intolerance among asthmatics. | 박해심 |
| 2006 | | Association between chronic hepatitis B virus infection and interleukin-10, tumor necrosis factor-alpha gene promoter polymorphisms. | 김진홍, 정재연, 조성원, 함기백 |
| 2007 | | Association between polymorphisms in prostanoid receptor genes and aspirin-intolerant asthma. | 김승현, 박해심 |
| 2011 | | Association between variable number tandem repeats within the 3' flanking region of the interleukin-6 gene and systemic lupus erythematosus in Korean patients. | 김승현, 김현아, 서창희 |
| 2012 | | Association between white matter hyperintensity severity and cognitive impairment according to the presence of the apolipoprotein E (APOE) ε4 allele in the elderly: retrospective analysis of data from the CREDOS study | 이윤환, 홍창형 |
| 2007 | | Association of CD94/NKG2A, CD94/NKG2C, and its ligand HLA-E polymorphisms with Behcet's disease. | 손성향, 이은소 |
| 2013 | | Association of guanosine triphosphate cyclohydrolase 1 gene polymorphisms with fibromyalgia syndrome in a Korean population. | 김현아 |
| 2011 | | Association of thromboxane A2 receptor (TBXA2R) gene polymorphism in patients with aspirin-intolerant acute urticaria. | 김승현, 김주희, 박해심, 예영민 |
| 2005 | | Association of thromboxane A2 receptor gene polymorphism with the phenotype of acetyl salicylic acid-intolerant asthma. | 김승현, 박해심 |
| 2015 | | Association of TNFSF15 polymorphisms in Korean children with Crohn's disease. | 장주영 |
| 2004 | | Association of tumor necrosis factor polymorphisms with asthma and serum total IgE. | 박해심 |
| 2010 | | Association of vascular endothelial growth factor polymorphisms with nonproliferative and proliferative diabetic retinopathy. | 이관우 |
| 2016 | | Association-heterogeneity mapping identifies an Asian-specific association of the GTF2I locus with rheumatoid arthritis | 서창희 |
| 2004 | | B-cell translocation gene 2 (Btg2) regulates vertebral patterning by modulating bone morphogenetic protein/smad signaling. | 임인경 |
| 2003 | | Behçet's disease: the first Mongolian case in literature showing HLA B51, MICA gene type *5/*6. | 이성낙, 이은소 |
| 2011 | | Clinical and genetic characteristics of Korean patients with Gaucher disease. | 김현주, 정선용 |
| 2014 | | Clinical course of patients with aspirin-exacerbated respiratory disease: can we predict the prognosis? | 김승현, 박해심, 예영민 |
| 2000 | | Connexin26 mutations associated with nonsyndromic hearing loss. | 박기현, 박홍준, 전영명, 한시훈 |
| 2021 | | Cortical thickness is differently associated with ALDH2 rs671 polymorphism according to level of amyloid deposition | 노현웅, 박범희, 손상준, 정재연, 최진욱, 하재호, 홍창형 |
| 2006 | | Cysteinyl leukotriene receptor 1 promoter polymorphism is associated with aspirin-intolerant asthma in males. | 김승현, 남동호, 박해심, 서창희 |
| 2019 | | Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis | 손영배, 장주영 |
| 2011 | | Deletion of SNAP-23 results in pre-implantation embryonic lethality in mice | 서영호 |
| 2016 | | Diversification of the molecular clockwork for tissue-specific function: insight from a novel Drosophila Clock mutant homologous to a mouse Clock allele | 김은영, 조은주 |
| 2012 | | Effect of interleukin-18 gene polymorphisms on sensitization to wheat flour in bakery workers | 김승현, 박해심 |
| 2015 | | Effect of rivastigmine or memantine add-on therapy is affected by butyrylcholinesterase genotype in patients with probable Alzheimer's disease. | 문소영 |
| 2015 | | Effects of MBL2 polymorphisms in patients with diisocyanate-induced occupational asthma. | 김승현, 박해심, 예영민 |
| 2021 | | Gene polymorphisms in leptin and its receptor and the response to growth hormone treatment in patients with idiopathic growth hormone deficiency | 심영석 |
| 1997 | | Genetic mapping in the mouse of Kif4, a gene encoding a kinesin-like motor protein. | 김완기 |
| 2016 | | Genetic polymorphisms in the Wnt/beta-catenin pathway genes as predictors of tumor development and survival in patients with hepatitis B virus-associated hepatocellular carcinoma | 김순선, 노충균, 신성재, 유병무, 이광재, 이기명, 정재연, 조성원, 조효정 |
| 2017 | | Genetic variants of the gasdermin B gene associated with the development of aspirin-exacerbated respiratory diseases | 박해심 |
| 2022 | | Genome-wide association of individual vulnerability with alcohol-associated liver disease: A Korean genome and epidemiology study | 김범택 |
| 2014 | | Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. | 조남한 |
| 2010 | | Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. | 김유찬, 김현주, 정선용, 정연훈 |
| 2015 | | High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. | 서창희 |
| 2004 | | HLA association in aspirin-intolerant asthma: DPB1*0301 as a strong marker in a Korean population. | 박해심 |
| 2007 | | HLA-E*0101 and HLA-G*010101 reduce the risk of Behcet's disease. | 손성향, 이은소 |
| 2021 | | Identification of a novel HLA-C*03:04 allele, HLA-C*03:04:84, in a Korean individual | 박서진 |
| 2011 | | Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach. | 김현주, 정선용 |
| 1998 | | Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. | 조성원, 한시훈 |
| 2016 | | Imputing Variants in HLA-DR Beta Genes Reveals That HLA-DRB1 Is Solely Associated with Rheumatoid Arthritis and Systemic Lupus Erythematosus | 서창희 |
| 2020 | | Increased expression of serine palmitoyl transferase and ORMDL3 polymorphism are associated with eosinophilic inflammation and airflow limitation in aspirin-exacerbated respiratory disease | 박해심, 예영민 |
| 2010 | | Interleukin 6 gene polymorphisms are associated with systemic lupus erythematosus in Koreans. | 김승현, 김현아, 박해심, 서창희 |
| 2005 | | Lack of association between hepatitis B virus infection and polymorphism of mannose-binding lectin gene in Korean population. | 김진홍, 정재연, 조성원, 함기백 |
| 2004 | | Leukotriene-related gene polymorphisms in ASA-intolerant asthma: an association with a haplotype of 5-lipoxygenase. | 박해심 |
| 2011 | | Lymph node metastasis of gastric cancer is associated with the interaction between poly (ADP-ribose) polymerase 1 and matrix metallopeptidase 2. | 이광재, 조성원 |
| 2013 | | Mannose-binding lectin 2 gene polymorphisms affect serum mannose-binding lectin levels in adult asthmatics. | 김승현, 박해심 |
| 2012 | | Matrix metalloproteinase-2, -9, -12, and tissue inhibitor of metalloproteinase 2 gene polymorphisms and cutaneous expressions in patients with Behçet's disease | 이은소 |
| 2017 | | Meta-analysis of genome-wide SNP- and pathway-based associations for facets of neuroticism | 조남한 |
| 2016 | | Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma | 이해상, 황진순 |
| 2000 | | Mutation analysis of Korean patients with citrullinemia. | 한시훈 |
| 2012 | | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism | 김현주, 정선용 |
| 2014 | | Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy | 김옥화 |
| 2013 | | Mutations of the TATA-binding protein confer enhanced tolerance to hyperosmotic stress in Saccharomyces cerevisiae. | 김완기 |
| 2013 | | NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. | 김영배, 손영배, 임현이, 정선용, 진현석, 한재호 |
