| 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 | 반가영, 박해심, 김승현 |
| 2009 | Allelic variants of CD40 and CD40L genes interact to promote antibiotic-induced cutaneous allergic reactions. | 박해심 |
| 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 |
| 2010 | Association analysis of N-acetyl transferase-2 polymorphisms with aspirin intolerance among asthmatics. | 박해심 |
| 2008 | Association between a TGFbeta1 promoter polymorphism and the phenotype of aspirin-intolerant chronic urticaria in a Korean population. | 박한정, 예영민, 김승현, 박해심 |
| 2006 | Association between chronic hepatitis B virus infection and interleukin-10, tumor necrosis factor-alpha gene promoter polymorphisms. | 정재연, 조성원, 함기백, 김진홍 |
| 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. | 김현아, 김승현, 서창희 |
| 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 |
| 2009 | Association of the human leukocyte antigen class II alleles with chronic atrophic gastritis and gastric carcinoma in Koreans. | 이기명 |
| 2011 | Association of thromboxane A2 receptor (TBXA2R) gene polymorphism in patients with aspirin-intolerant acute urticaria. | 김승현, 김주희, 예영민, 박해심 |
| 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 |
| 2010 | Association studies of -3081(A/T) polymorphism of norepinephrine transporter gene with attention deficit/hyperactivity disorder in Korean population. | 이순영 |
| 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. | 이은소, 이성낙 |
| 2011 | Clinical and genetic characteristics of Korean patients with Gaucher disease. | 정선용, 김현주 |
| 2014 | Clinical course of patients with aspirin-exacerbated respiratory disease: can we predict the prognosis? | 예영민, 김승현, 박해심 |
| 2009 | Combined effect of IL-10 and TGF-beta1 promoter polymorphisms as a risk factor for aspirin-intolerant asthma and rhinosinusitis. | 예영민, 박해심 |
| 2000 | Connexin26 mutations associated with nonsyndromic hearing loss. | 박홍준, 한시훈, 전영명, 박기현 |
| 2009 | CTLA4 gene polymorphisms and soluble CTLA4 protein in Behcet's disease. | 이은소 |
| 2006 | Cysteinyl leukotriene receptor 1 promoter polymorphism is associated with aspirin-intolerant asthma in males. | 김승현, 서창희, 남동호, 박해심 |
| 2007 | Cytotoxic T lymphocyte-associated antigen-4 gene polymorphisms confer susceptibility to atopic asthma in Korean children. | 김승현, 박해심 |
| 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 | 조은주, 김은영 |
| 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, 예영민, 박해심 |
| 2008 | Genetic association between functional haplotype of collagen type III alpha 1 and chronic hepatitis B and cirrhosis in Koreans. | 정재연, 조성원 |
| 1997 | Genetic mapping in the mouse of Kif4, a gene encoding a kinesin-like motor protein. | 김완기 |
| 2006 | Genetic markers for differentiating aspirin-hypersensitivity. | 김승현, 박해심 |
| 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, 조효정, 노충균, 신성재, 이기명, 유병무, 이광재, 조성원, 정재연 |
| 2017 | Genetic variants of the gasdermin B gene associated with the development of aspirin-exacerbated respiratory diseases | 박해심 |
| 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. | 김현주, 정선용, 정연훈, 김유찬 |
| 2015 | High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. | 서창희 |
| 2009 | Histamine N-methyltransferase 939A>G polymorphism affects mRNA stability in patients with acetylsalicylic acid-intolerant chronic urticaria. | 예영민, 박해심 |
| 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 |
| 2008 | Human leukocyte antigen class II association with spontaneous recovery from hepatitis B virus infection in Koreans: analysis at the haplotype level. | 조성원, 정재연 |
| 2011 | Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach. | 정선용, 김현주 |
| 1998 | Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. | 조성원, 한시훈 |
| 2008 | Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians. | 조남한 |
| 2016 | Imputing Variants in HLA-DR Beta Genes Reveals That HLA-DRB1 Is Solely Associated with Rheumatoid Arthritis and Systemic Lupus Erythematosus | 서창희 |
| 2010 | Interleukin 6 gene polymorphisms are associated with systemic lupus erythematosus in Koreans. | 김현아, 김승현, 박해심, 서창희 |
| 2005 | Lack of association between hepatitis B virus infection and polymorphism of mannose-binding lectin gene in Korean population. | 정재연, 조성원, 함기백, 김진홍 |
| 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. | 조성원, 이광재 |
| 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 |
