| 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 | | AMPK γ2 subunit gene PRKAG2 polymorphism associated with cognitive impairment as well as diabetes in old age | 홍창형 |
| 2013 | | An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family. | 김옥화 |
| 2018 | | Association between brain-derived neurotrophic factor gene polymorphisms and fibromyalgia in a Korean population: a multicenter study | 김현아 |
| 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 |
| 2014 | | Association of a microRNA-323b polymorphism with the persistence of hepatitis B virus infection by the enhancement of viral replication | 정재연, 조성원 |
| 2019 | | Association of Asian mitochondrial DNA haplogroup B with new development of knee osteoarthritis in Koreans | 조남한 |
| 2013 | | Association of guanosine triphosphate cyclohydrolase 1 gene polymorphisms with fibromyalgia syndrome in a Korean population. | 김현아 |
| 2017 | | Association of the miR-196a2, miR-146a, and miR-499 Polymorphisms with Asthma Phenotypes in a Korean Population | 김승현, 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 |
| 2017 | | Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype | 손영배 |
| 2013 | | Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome. | 김옥화, 정윤석 |
| 2011 | | Combined pharmacogenetic effect of ADCY9 and ADRB2 gene polymorphisms on the bronchodilator response to inhaled combination therapy. | 김승현, 박해심, 예영민 |
| 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 |
| 2011 | | Effect of Toll-like receptor 4 gene polymorphisms on work-related respiratory symptoms and sensitization to wheat flour in bakery workers. | 김승현, 박해심 |
| 2014 | | Exonic variants associated with development of aspirin exacerbated respiratory diseases. | 박해심 |
| 2011 | | Exploring genomic profiles of hepatocellular carcinoma | 우현구 |
| 2017 | | Genetic variants of the gasdermin B gene associated with the development of aspirin-exacerbated respiratory diseases | 박해심 |
| 2023 | | Genotype–phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea | 배기수 |
| 2015 | | Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. | 손영배 |
| 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 |
| 2010 | | Interleukin 6 gene polymorphisms are associated with systemic lupus erythematosus in Koreans. | 김승현, 김현아, 박해심, 서창희 |
| 2010 | | Linkage and association studies of joint morbidity from rheumatoid arthritis. | 민경복 |
| 2022 | | Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study | 박서진 |
| 2013 | | Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. | 김현주, 손영배, 정선용 |
| 2017 | | No association between estrogen receptor gene polymorphisms and premature thelarche in girls | 윤종서, 이해상, 황진순 |
| 2018 | | Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population | 조남한 |
| 2014 | | Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. | 김옥화 |
| 2012 | | Prioritization of SNPs for genome-wide association studies using an interaction model of genetic variation, gene expression, and trait variation | 백효정 |
| 2012 | | Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation | 황진순 |
| 2011 | | Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. | 김옥화 |
| 2014 | | Single nucleotide polymorphisms associated with abnormal coronary microvascular function. | 최병주 |
| 2010 | | The genetic association of the FPRL1 promoter polymorphism with chronic urticaria in a Korean population. | 김승현, 박해심 |
| 2012 | | TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients | 김옥화 |
| 2011 | | Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). | 김옥화 |
| 2011 | | Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. | 김옥화 |
