| 2019 | | Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis | 손영배, 장주영 |
| 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 | 김은영, 조은주 |
| 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, 박해심, 예영민 |
| 2021 | | Gene polymorphisms in leptin and its receptor and the response to growth hormone treatment in patients with idiopathic growth hormone deficiency | 심영석 |
| 1997 | | Genetic mapping in the mouse of Kif4, a gene encoding a kinesin-like motor protein. | 김완기 |
| 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 |
| 2017 | | Genetic variants of the gasdermin B gene associated with the development of aspirin-exacerbated respiratory diseases | 박해심 |
| 2022 | | Genome-wide association of individual vulnerability with alcohol-associated liver disease: A Korean genome and epidemiology study | 김범택 |
| 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. | 김유찬, 김현주, 정선용, 정연훈 |
| 2015 | | High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. | 서창희 |
| 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 |
| 2021 | | Identification of a novel HLA-C*03:04 allele, HLA-C*03:04:84, in a Korean individual | 박서진 |
| 2011 | | Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach. | 김현주, 정선용 |
| 1998 | | Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. | 조성원, 한시훈 |
| 2016 | | Imputing Variants in HLA-DR Beta Genes Reveals That HLA-DRB1 Is Solely Associated with Rheumatoid Arthritis and Systemic Lupus Erythematosus | 서창희 |
| 2020 | | Increased expression of serine palmitoyl transferase and ORMDL3 polymorphism are associated with eosinophilic inflammation and airflow limitation in aspirin-exacerbated respiratory disease | 박해심, 예영민 |
| 2010 | | Interleukin 6 gene polymorphisms are associated with systemic lupus erythematosus in Koreans. | 김승현, 김현아, 박해심, 서창희 |
| 2005 | | Lack of association between hepatitis B virus infection and polymorphism of mannose-binding lectin gene in Korean population. | 김진홍, 정재연, 조성원, 함기백 |
| 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. | 이광재, 조성원 |
| 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 |
| 2012 | | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism | 김현주, 정선용 |
| 2014 | | Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy | 김옥화 |
| 2013 | | Mutations of the TATA-binding protein confer enhanced tolerance to hyperosmotic stress in Saccharomyces cerevisiae. | 김완기 |
| 2013 | | NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. | 김영배, 손영배, 임현이, 정선용, 진현석, 한재호 |
| 2018 | | Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population | 조남한 |
| 1999 | | Participation of the melanocortin-1 receptor in the UV control of pigmentation. | 임성빈 |
| 2005 | | Polymorphisms of high-affinity IgE receptor and histamine-related genes in patients with ASA-induced urticaria/angioedema. | 김승현, 남동호, 박해심, 서창희 |
| 2015 | | Replication of genome wide association studies on hepatocellular carcinoma susceptibility loci of STAT4 and HLA-DQ in a Korean population. | 정재연, 조성원 |
| 2021 | | Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome | 손영배 |
| 2010 | | The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome. | 고정민 |
| 2005 | | The human leucocyte antigen-DRB1*1302-DQB1*0609-DPB1*0201 haplotype may be a strong genetic marker for aspirin-induced urticaria. | 김승현, 남동호, 박해심, 서창희 |
| 2013 | | Ticlopidine with Ginkgo Biloba extract: a feasible combination for patients with acute cerebral ischemia. | 이진수, 임영애, 주인수, 홍지만 |
| 2015 | | Tolerance to acetic acid is improved by mutations of the TATA-binding protein gene. | 김완기 |
| 2003 | | VIM- and IMP-type metallo-beta-lactamase-producing Pseudomonas spp. and Acinetobacter spp. in Korean hospitals. | 이위교 |
