| 1998 | | A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens. | 이은소 |
| 2000 | | A novel germ line juxtamembrane Met mutation in human gastric cancer. | 이재호, 조혜성, 한상욱 |
| 2004 | | A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness. | 주인수, 허균 |
| 2001 | | Activated cAMP-response element-binding protein regulates neuronal expression of presenilin-1. | 이영돈 |
| 2000 | | Assignment of the kinesin family member 4 genes (KIF4A and KIF4B) to human chromosome bands Xq13.1 and 5q33.1 by in situ hybridization. | 김완기, 김현주, 이영미, 하만준 |
| 2011 | | Association of TP53 mutations with stem cell-like gene expression and survival of patients with hepatocellular carcinoma | 우현구 |
| 2004 | | B-cell translocation gene 2 (Btg2) regulates vertebral patterning by modulating bone morphogenetic protein/smad signaling. | 임인경 |
| 2013 | | Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. | 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 |
| 2019 | | Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis | 손영배, 장주영 |
| 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 |
| 2018 | | EGFR Exon 19 Deletion is Associated With Favorable Overall Survival After First-line Gefitinib Therapy in Advanced Non-Small Cell Lung Cancer Patients | 강석윤, 고영화, 박준성, 신승수, 이현우, 정성현, 최용원, 최진혁, 한재호 |
| 2014 | | Exonic variants associated with development of aspirin exacerbated respiratory diseases. | 박해심 |
| 1995 | | Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. | 한시훈 |
| 2004 | | Identification of a novel HLA-B*55 variant (B*5513) from a Korean family. | 박해심 |
| 2021 | | Identification of a novel HLA-C*03:04 allele, HLA-C*03:04:84, in a Korean individual | 박서진 |
| 2010 | | KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect. | 고정민, 황진순 |
| 1996 | | MLL tandem duplication and multiple splicing in adult acute myeloid leukemia with normal karyotype. | 남동기 |
| 2012 | | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism | 김현주, 정선용 |
| 2012 | | Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease | 이용희 |
| 2012 | | PAPSS2 mutations cause autosomal recessive brachyolmia | 김옥화 |
| 2001 | | Sequential changes in hepatocarcinogenesis induced by diethylnitrosamine plus thioacetamide in Fischer 344 rats: induction of gankyrin expression in liver fibrosis, pRB degradation in cirrhosis, and methylation of p16(INK4A) exon 1 in hepatocellular carcinoma. | 임인경 |
| 1998 | | Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation. | 김현주 |
| 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 |
| 2012 | | Transgenic mice expressing yellow fluorescent protein under control of the human tyrosine hydroxylase promoter | 이명애 |
| 2021 | | USO1 isoforms differentially promote liver cancer progression by dysregulating the ER-Golgi network | SHAH, MASAUD, 권소미, 우현구, 최지혜 |
