| 1998 | | A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens. | 이은소 |
| 2019 | | Abrogation of B-Raf(V600E) induced senescence by FoxM1 expression | 강석윤, 김장희, 박태준, 최용원 |
| 2019 | | Amino acid signatures of HLA Class-I and II molecules are strongly associated with SLE susceptibility and autoantibody production in Eastern Asians | 서창희 |
| 2012 | | C-terminal substitution of HBV core proteins with those from DHBV reveals that arginine-rich 167RRRSQSPRR175 domain is critical for HBV replication | 김경민, 박선, 신호준, 최용준 |
| 2013 | | Functional consequences of complementarity-determining region deactivation in a multifunctional anti-nucleic acid antibody. | 권명희 |
| 2006 | | Heavy and light chain variable single domains of an anti-DNA binding antibody hydrolyze both double- and single-stranded DNAs without sequence specificity. | 권명희 |
| 2010 | | Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. | 김유찬, 김현주, 정선용, 정연훈 |
| 2014 | | Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis. | 손영배 |
| 2015 | | Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. | 손영배 |
| 2004 | | Identification of a novel HLA-B*55 variant (B*5513) from a Korean family. | 박해심 |
| 2019 | | Increasing Prevalence of Group III Penicillin-Binding Protein 3 Mutations Conferring High-Level Resistance to Beta-Lactams Among Nontypeable Haemophilus influenzae Isolates from Children in Korea | 정현주 |
| 2016 | | Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls | 권은별, 이해상, 정선용, 황진순 |
| 2019 | | Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia | 손영배 |
| 2010 | | Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene. | 김성환, 황진순 |
| 2018 | | Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population | 조남한 |
| 2022 | | Omicron: A Heavily Mutated SARS-CoV-2 Variant Exhibits Stronger Binding to ACE2 and Potently Escapes Approved COVID-19 Therapeutic Antibodies | SHAH, MASAUD, 우현구 |
| 2014 | | Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. | 김옥화 |
| 2000 | | Phosphorylation of methylated-DNA-protein-cysteine S-methyltransferase at serine-204 significantly increases its resistance to proteolytic digestion. | 박태준, 백운기, 임인경 |
| 2015 | | Phosphorylation of phosphatidylinositol 4-phosphate 5-kinase γ by Akt regulates its interaction with talin and focal adhesion dynamics. | 이상윤, 주일로 |
| 2016 | | Resistance Mechanisms and Clinical Features of Fluconazole-Nonsusceptible Candida tropicalis Isolates Compared with Fluconazole-Less-Susceptible Isolates | 이위교 |
| 2003 | | The ICAM1469*E is associated with susceptibility to ocular lesions and vasculitis in Korean patients with Behçet's disease. | 이성낙, 이은소 |
| 2019 | | Ufd1 phosphorylation at serine 229 negatively regulates endoplasmic reticulum-associated degradation by inhibiting the interaction of Ufd1 with VCP | 이상윤 |
