| 2022 | | Effects of RETN polymorphisms on treatment response in rheumatoid arthritis patients receiving TNF-α inhibitors and utilization of machine-learning algorithms | 김현아, 정주양 |
| 2014 | | Ethnic specificity of lupus-associated loci identified in a genome-wide association study in Korean women. | 서창희 |
| 2014 | | Exonic variants associated with development of aspirin exacerbated respiratory diseases. | 박해심 |
| 2011 | | Exploring genomic profiles of hepatocellular carcinoma | 우현구 |
| 2014 | | First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1. | 손영배 |
| 2010 | | Functional variability of the adenosine A3 receptor (ADORA3) gene polymorphism in aspirin-induced urticaria. | 김승현, 박해심, 예영민 |
| 2013 | | Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests. | 손영배 |
| 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 |
| 2003 | | Genetic susceptibility to food allergy is linked to differential TH2-TH1 responses in C3H/HeJ and BALB/c mice. | 이수영 |
| 2017 | | Genetic variants of the gasdermin B gene associated with the development of aspirin-exacerbated respiratory diseases | 박해심 |
| 2010 | | Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts. | 진현석 |
| 2022 | | Genome-wide association of individual vulnerability with alcohol-associated liver disease: A Korean genome and epidemiology study | 김범택 |
| 2014 | | Genome-wide association studies identify locus on 6p21 influencing lung function in the Korean population. | 조남한 |
| 2013 | | Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. | 조남한 |
| 2016 | | Genome-wide association study in East Asians suggests UHMK1 as a novel bone mineral density susceptibility gene | 조남한 |
| 2014 | | Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations. | 장주영 |
| 2013 | | Genome-wide association study of serum albumin:globulin ratio in Korean populations. | 진현석 |
| 2014 | | Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. | 조남한 |
| 2015 | | High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. | 서창희 |
| 2016 | | High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry | 서창희 |
| 2017 | | HLA-A*31:01 and lamotrigine-induced severe cutaneous adverse drug reactions in a Korean population | 박해심 |
| 2020 | | HLAs associated with perampanel-induced psychiatric adverse effects in a Korean population | 김태준 |
| 2018 | | HSV-Induced Systemic Inflammation as an Animal Model for Behcet's Disease and Therapeutic Applications | 손성향 |
| 2018 | | Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder | 김정현, 박찬배, 이영수, 임신영, 정선용 |
| 2016 | | Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans | 서창희 |
| 2015 | | Identification of FAM13A gene associated with the ratio of FEV1 to FVC in Korean population by genome-wide association studies including gene-environment interactions. | 조남한 |
| 2018 | | Identification of five novel genetic loci related to facial morphology by genome-wide association studies | 조남한 |
| 2017 | | Identification of novel OCT4 genetic variant associated with the risk of chronic hepatitis B in a Korean population | 조성원 |
| 2018 | | Identification of novel susceptibility loci associated with hepatitis B surface antigen seroclearance in chronic hepatitis B | 우현구 |
| 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 |
| 2016 | | Imputing Variants in HLA-DR Beta Genes Reveals That HLA-DRB1 Is Solely Associated with Rheumatoid Arthritis and Systemic Lupus Erythematosus | 서창희 |
| 2006 | | Increased risk of human leukocyte antigen-G gene variants in Behçet's disease. | 이은소 |
| 2003 | | Intercellular adhesion molecule-1 polymorphisms in Korean patients with Behcet s disease. | 이성낙, 이은소 |
| 2010 | | Interleukin 6 gene polymorphisms are associated with systemic lupus erythematosus in Koreans. | 김승현, 김현아, 박해심, 서창희 |
| 2012 | | Interleukin-1ß and interleukin-1 receptor accessory protein gene polymorphisms are associated with persistent hepatitis B virus infection | 김순선, 정재연, 조성원 |
| 2019 | | Investigating the Feasibility of Targeted Next-Generation Sequencing to Guide the Treatment of Head and Neck Squamous Cell Carcinoma | 이현우 |
| 2016 | | KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients | 정용식 |
| 2011 | | Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits | 조남한 |
| 2010 | | Linkage and association studies of joint morbidity from rheumatoid arthritis. | 민경복 |
| 2014 | | Liver X receptors alpha gene (NR1H3) promoter polymorphisms are associated with systemic lupus erythematosus in Koreans. | 김현아, 서창희, 전자영 |
| 2017 | | Makorin ring finger 3 gene analysis in Koreans with familial precocious puberty | 이해상 |
| 2021 | | Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus | 서창희 |
| 2012 | | Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians | 조남한 |
| 2014 | | Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. | 조남한 |
| 2016 | | New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk | 조남한 |
| 2017 | | No association between estrogen receptor gene polymorphisms and premature thelarche in girls | 윤종서, 이해상, 황진순 |
| 2010 | | Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension. | 진현석 |
| 2018 | | Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population | 조남한 |
| 2012 | | PAPSS2 mutations cause autosomal recessive brachyolmia | 김옥화 |
| 2020 | | Plasma levels of polychlorinated biphenyl, genetic polymorphisms, and the risk of advanced stage endometriosis | 김미란 |
| 2019 | | Polymorphisms of MFGE8 are associated with susceptibility and clinical manifestations through gene expression modulation in Koreans with systemic lupus erythematosus | 김현아, 서창희, 정주양 |
| 2016 | | Polymorphisms of the TRPV2 and TRPV3 genes associated with fibromyalgia in a Korean population | 김현아 |
| 2006 | | Relationship between metabolic syndrome and familial history of hypertension/stroke, diabetes, and cardiovascular disease. | 이관우, 전기홍 |
| 2010 | | Relationship between the diagnostic components of metabolic syndrome (MS) and cognition by ApoE genotype in the elderly. | 정영기, 홍창형 |
| 2012 | | Relationship of plasminogen activator inhibitor 1 gene 4G/5G polymorphisms to hypertension in Korean women | 김광민, 김규남, 김범택, 이득주, 조두연, 주남석 |
| 2011 | | Replicated association of a regulatory polymorphism in the interferon γ gene with lupus susceptibility. | 서창희 |
| 2013 | | Replication of Caucasian loci associated with bone mineral density in Koreans. | 조남한 |
| 2015 | | Replication of genome wide association studies on hepatocellular carcinoma susceptibility loci of STAT4 and HLA-DQ in a Korean population. | 정재연, 조성원 |
| 2014 | | Similar clinical characteristics of familial and sporadic inflammatory bowel disease in South Korea. | 정숙희 |
| 2014 | | Single nucleotide polymorphisms associated with abnormal coronary microvascular function. | 최병주 |
