| 2008 | | A case of Birt-Hogg-Dubé syndrome. | 김유찬, 김현주, 정선용 |
| 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 |
| 2009 | | A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. | 조남한 |
| 2006 | | A polymorphism of MS4A2 (- 109T > C) encoding the beta-chain of the high-affinity immunoglobulin E receptor (FcepsilonR1beta) is associated with a susceptibility to aspirin-intolerant asthma. | 김승현, 남동호, 박해심, 서창희 |
| 2014 | | Additive effect between IL-13 polymorphism and cesarean section delivery/prenatal antibiotics use on atopic dermatitis: a birth cohort study (COCOA). | 이수영 |
| 2009 | | Adenosine deaminase and adenosine receptor polymorphisms in aspirin-intolerant asthma. | 김승현, 박해심, 예영민 |
| 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 |
| 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 |
| 2009 | | Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea. | 한승진 |
| 2003 | | Association of Eotaxin gene family with asthma and serum total IgE. | 박해심, 최정희 |
| 2008 | | Association of four-locus gene interaction with aspirin-intolerant asthma in Korean asthmatics. | 김승현, 박해심 |
| 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 |
| 2008 | | Association of lipoprotein lipase (LPL) single nucleotide polymorphisms with type 2 diabetes mellitus. | 조남한 |
| 2014 | | Association of polymorphism in microRNA 604 with susceptibility to persistent hepatitis B virus infection and development of hepatocellular carcinoma. | 정재연, 조성원 |
| 2017 | | Association of the miR-196a2, miR-146a, and miR-499 Polymorphisms with Asthma Phenotypes in a Korean Population | 김승현, 박해심 |
| 2008 | | Association of three sets of high-affinity IgE receptor (FcepsilonR1) polymorphisms with aspirin-intolerant asthma. | 김승현, 박해심, 예영민 |
| 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 |
| 2006 | | Association of TNF-alpha genetic polymorphism with HLA DPB1*0301. | 김승현, 박해심, 예영민 |
| 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 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 |
| 2015 | | Atypical hemolytic uremic syndrome: Korean pediatric series. | 박세진 |
| 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 |
| 2009 | | Combined effect of IL-10 and TGF-beta1 promoter polymorphisms as a risk factor for aspirin-intolerant asthma and rhinosinusitis. | 박해심, 예영민 |
| 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 |
| 2006 | | Endoscopy-assisted ultrasonic surgical aspiration of axillary osmidrosis: a retrospective review of 896 consecutive patients from 1998 to 2004. | 배남석 |
| 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 |
| 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 |
| 2008 | | Genetic association between functional haplotype of collagen type III alpha 1 and chronic hepatitis B and cirrhosis in Koreans. | 정재연, 조성원 |
| 2013 | | Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests. | 손영배 |
| 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, 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 |
| 2010 | | Genetic variability in CRTH2 polymorphism increases eotaxin-2 levels in patients with aspirin exacerbated respiratory disease. | 김승현, 박해심, 예영민, 최길순 |
| 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 |
| 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 |
| 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 |
