| 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 |
| 2016 | | Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures. | 손영배 |
| 2018 | | Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11 | 박규정, 손영배, 이해상, 황진순 |
| 2019 | | Synergistic Neuroprotective Effect of Schisandra chinensis and Ribes fasciculatum on Neuronal Cell Death and Scopolamine-Induced Cognitive Impairment in Rats | 김정현, 박은국, 정선용 |
| 2014 | | TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions. | 손영배, 임현이, 정선용, 한재호 |
| 2015 | | Targeted inhibition of mitochondrial Hsp90 induces mitochondrial elongation in Hep3B hepatocellular carcinoma cells undergoing apoptosis by increasing the ROS level. | 정선용 |
| 2009 | | The Clinical Features, Immunostaining and Genetic Study in Duchenne/Becker Muscular Dystrophy | 고정민 |
| 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 |
| 2014 | | The effect of Lycii Radicis Cortex extract on bone formation in vitro and in vivo. | 김정현, 박은국, 정선용, 정윤석, 조두연 |
| 2018 | | The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology | 손영배 |
| 2015 | | The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses. | 손영배, 임신영 |
| 2020 | | The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects | 손영배 |
| 2012 | | The Genetic Variations of ESR1 Gene are Associated with Blood Pressure Traits in the Korean Women | 진현석 |
| 2022 | | The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure | 손영배 |
| 2019 | | The loss of succinate dehydrogenase B expression is frequently identified in hemangioblastoma of the central nervous system | 김세혁, 김장희, 노진, 노태훈, 이기범, 임현이, 정선용 |
| 2010 | | The natural history and prognostic factors of Graves’ disease in Korean children and adolescents | 고정민 |
| 2014 | | The PARK2 gene is involved in the maintenance of pancreatic β-cell functions related to insulin production and secretion. | 강엽, 정선용, 진현석 |
| 2013 | | The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea. | 손영배 |
| 2007 | | The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome | 김현주 |
| 2022 | | Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair | 손영배 |
| 2014 | | TIMP-1 modulates chemotaxis of human neural stem cells through CD63 and integrin signalling. | 이명애, 정선용 |
| 2017 | | Transcriptional profiling of human femoral mesenchymal stem cells in osteoporosis and its association with adipogenesis | 원예연, 정선용, 정윤석, 최용준 |
| 2011 | | Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis | 윤수한, 정선용 |
| 2012 | | Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence | 손영배 |
| 2010 | | Type 2 Diabetes Genetic Association Database manually curated for the study design and odds ratio. | 진현석 |
| 2023 | | UBAP2 plays a role in bone homeostasis through the regulation of osteoblastogenesis and osteoclastogenesis | 김범택, 김정현, 박은국, 원예연, 정선용, 정윤석, 최용준 |
| 2022 | | Updates on Paget’s Disease of Bone | 손영배, 정윤석, 최용준 |
| 2023 | | Using low-dose octreotide with diazoxide-resistant congenital hyperinsulinism resulting from com-pound heterozygous mutations in the ABCC8 gene | 손영배, 이해상, 황진순 |
| 2015 | | VE1 antibody is not highly specific for the BRAF V600E mutation in thyroid cytology categories with the exception of malignant cases. | 김대중, 김장희, 소의영, 신승수, 이기범, 이정훈, 임현이, 정선용, 정윤석, 한재호 |
