| 2015 | | Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. | 손영배 |
| 2017 | | Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies | 김정현 |
| 2011 | | Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach. | 김현주, 정선용 |
| 2018 | | Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder | 김정현, 박찬배, 이영수, 임신영, 정선용 |
| 2014 | | Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. | 손영배, 정선용 |
| 2020 | | Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing | 금창대, 노정기, 이해상, 정선용, 정재연, 황진순 |
| 2014 | | Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. | 이기영, 임신영, 정선용 |
| 2014 | | Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome). | 손영배 |
| 2014 | | Improvement of cardiac function by short-term enzyme replacement therapy in a murine model of cardiomyopathy associated with Hunter syndrome evaluated by serial echocardiography with speckle tracking 2-D strain analysis. | 손영배 |
| 2013 | | Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice. | 손영배 |
| 2011 | | In Vitro and In Vivo Inhibition of Glucocorticoid-induced Osteoporosis by the Hexane Extract of Poncirus trifoliata. | 정선용, 정윤석 |
| 2010 | | Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome. | 고정민 |
| 2012 | | Inhibition of Bcl-xL by ABT-737 enhances chemotherapy sensitivity in neurofibromatosis type 1-associated malignant peripheral nerve sheath tumor cells | 김보영, 김현주, 임현이, 정선용, 진현석, 한재호 |
| 2022 | | Inhibitory Effect of Ulmus davidiana and Cornus officinalis Extracts on Osteoporotic Bone Loss In Vitro and In Vivo | 김정현, 박은국, 정선용 |
| 2023 | | Inhibitory Effects of Loganin on Adipogenesis In Vitro and In Vivo | 김정현, 박은국, 정선용 |
| 2013 | | Interaction of motor training and intermittent theta burst stimulation in modulating motor cortical plasticity: influence of BDNF Val66Met polymorphism. | 김병곤, 정선용 |
| 2015 | | Isolated patchy heterochromia of the scalp hair. | 김유찬, 손성향, 손영배 |
| 2010 | | KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect. | 고정민, 황진순 |
| 2020 | | Loss of Heterozygosity at Chromosome 16q Is a Negative Prognostic Factor in Korean Pediatric Patients with Favorable Histology Wilms Tumor: A Report of the Korean Pediatric Hematology Oncology Group (K-PHOG) | 노오규, 박준은, 이용희, 정선용 |
| 2010 | | Loss of Y chromosome in the malignant peripheral nerve sheet tumor of a patient with Neurofibromatosis type 1. | 김현주, 정선용 |
