| 2010 | | A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1. | 김옥화 |
| 2013 | | A genome-wide association study identified new variants associated with the risk of chronic hepatitis B. | 정재연, 조성원 |
| 2013 | | A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans. | 조남한 |
| 2013 | | A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder. | 우현구 |
| 2017 | | A Role of the ABCC4 Gene Polymorphism in Airway Inflammation of Asthmatics | 김승현, 박해심, 반가영 |
| 2011 | | A synonymous variation in protease-activated receptor-2 is associated with atopy in Korean children. | 김승현, 박해심 |
| 2014 | | Additive effect between IL-13 polymorphism and cesarean section delivery/prenatal antibiotics use on atopic dermatitis: a birth cohort study (COCOA). | 이수영 |
| 2014 | | Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations. | 서창희 |
| 2012 | | Allelic loss of susceptibility loci and the occurrence of BRAF and RAS mutations in patients with familial non-medullary thyroid cancer | 소의영 |
| 2019 | | Amino acid signatures of HLA Class-I and II molecules are strongly associated with SLE susceptibility and autoantibody production in Eastern Asians | 서창희 |
| 2010 | | An epidemiological study of hyperhidrosis patients visiting the Ajou University Hospital hyperhidrosis center in Korea. | 김도완, 김찬, 최호, 한경림 |
| 2015 | | An HLA-C amino-acid variant in addition to HLA-B*27 confers risk for ankylosing spondylitis in the Korean population. | 서창희 |
| 2018 | | Association between brain-derived neurotrophic factor gene polymorphisms and fibromyalgia in a Korean population: a multicenter study | 김현아 |
| 2022 | | Association between nuclear factor of activated T cells C2 polymorphisms and treatment response in rheumatoid arthritis patients receiving tumor necrosis factor-alpha inhibitors | 김현아, 정주양 |
| 2019 | | Association of Asian mitochondrial DNA haplogroup B with new development of knee osteoarthritis in Koreans | 조남한 |
| 2016 | | Association of autophagy related gene polymorphisms with neutrophilic airway inflammation in adult asthma | 김승현, 신유섭, 예영민 |
| 2007 | | Association of CD94/NKG2A, CD94/NKG2C, and its ligand HLA-E polymorphisms with Behcet's disease. | 손성향, 이은소 |
| 2003 | | Association of Eotaxin gene family with asthma and serum total IgE. | 박해심, 최정희 |
| 2013 | | Association of guanosine triphosphate cyclohydrolase 1 gene polymorphisms with fibromyalgia syndrome in a Korean population. | 김현아 |
| 2011 | | Association of interleukin 10 promoter polymorphism at -819 T>C with aspirin-induced urticaria in a Korean population. | 김승현, 남영희, 박해심, 진현정 |
| 2014 | | Association of polymorphism in microRNA 604 with susceptibility to persistent hepatitis B virus infection and development of hepatocellular carcinoma. | 정재연, 조성원 |
| 2012 | | Association of polymorphism in pri-microRNAs-371-372-373 with the occurrence of hepatocellular carcinoma in hepatitis B virus infected patients | 정재연, 조성원 |
| 2017 | | Association of the miR-196a2, miR-146a, and miR-499 Polymorphisms with Asthma Phenotypes in a Korean Population | 김승현, 박해심 |
| 2021 | | Association of TLR 9 gene polymorphisms with remission in patients with rheumatoid arthritis receiving TNF-α inhibitors and development of machine learning models | 정주양 |
| 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 |
| 2015 | | Association of VARS2-SFTA2 polymorphisms with the risk of chronic hepatitis B in a Korean population. | 정재연, 조성원 |
| 2016 | | Association-heterogeneity mapping identifies an Asian-specific association of the GTF2I locus with rheumatoid arthritis | 서창희 |
| 2015 | | Atypical hemolytic uremic syndrome: Korean pediatric series. | 박세진 |
| 2023 | | Causal association between celiac disease and inflammatory bowel disease: A two-sample bidirectional Mendelian randomization study | 김지훈 |
| 2014 | | CD11a, CD11c, and CD18 gene polymorphisms and susceptibility to Behçet's disease in Koreans. | 이은소 |
| 2016 | | Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients | 손영배 |
| 2016 | | Circulating hsa-miR-30e-5p, hsa-miR-92a-3p, and hsa-miR-223-3p may be novel biomarkers in systemic lupus erythematosus | 김현아, 서창희, 정주양 |
| 2011 | | Clinical and genetic characteristics of Korean patients with Gaucher disease. | 김현주, 정선용 |
| 2013 | | Clinical and genetic risk factors for type 2 diabetes at early or late post partum after gestational diabetes mellitus. | 조남한 |
| 2021 | | Cortical thickness is differently associated with ALDH2 rs671 polymorphism according to level of amyloid deposition | 노현웅, 박범희, 손상준, 정재연, 최진욱, 하재호, 홍창형 |
| 2013 | | Dietary intake and breast cancer among carriers and noncarriers of BRCA mutations in the Korean Hereditary Breast Cancer Study. | 정용식 |
| 2015 | | Dipeptidyl-peptidase 10 as a genetic biomarker for the aspirin-exacerbated respiratory disease phenotype. | 김승현, 박해심, 예영민 |
| 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 |
