| 2017 | | Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings | 손영배, 이은소 |
| 2010 | | Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population. | 진현석 |
| 2012 | | Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome | 손영배, 임신영 |
| 2011 | | Replicated association between genetic variation in the PARK2 gene and blood pressure. | 정선용, 진현석 |
| 2012 | | Replicated Association between SLC4A4 Gene and Blood Pressure Traits in the Korean Population | 진현석 |
| 2014 | | Retinal pigment epithelial cells undergoing mitotic catastrophe are vulnerable to autophagy inhibition. | 정선용 |
| 2012 | | Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases | 손영배 |
| 2022 | | Ribes fasciculatum Ameliorates High-Fat-Diet-Induced Obesity by Elevating Peripheral Thermogenic Signaling | 박은국 |
| 2022 | | RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A | 손영배 |
| 2004 | | Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis. | 정선용 |
| 2015 | | Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome. | 손영배 |
| 2011 | | SCA in Korea and its regional distribution: a multicenter analysis. | 김현주, 용석우 |
| 2020 | | Scopolin Attenuates Osteoporotic Bone Loss in Ovariectomized Mice | 김정현, 박은국, 정선용 |
| 2020 | | Scopolin Prevents Adipocyte Differentiation in 3T3-L1 Preadipocytes and Weight Gain in an Ovariectomy-Induced Obese Mouse Model | 김정현, 박은국, 이창근, 정선용 |
| 2016 | | Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization | 손영배 |
| 2021 | | Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome | 손영배 |
| 2007 | | Spinocerebellar ataxia 7 (SCA7) | 김현주, 정선용 |
| 2017 | | STRA6 as a possible candidate gene for pathogenesis of osteoporosis from RNAseq analysis of human mesenchymal stem cells | 원예연, 정선용, 정윤석, 최용준 |
| 2011 | | Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome | 김현주 |
| 1998 | | Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation. | 김현주 |
