| 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 |
| 2016 | | Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls | 권은별, 이해상, 정선용, 황진순 |
| 2013 | | Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH | 손영배 |
| 2018 | | Makorin 1 Regulates Developmental Timing in Drosophila | 김은영, 이해상, 정선용, 황진순 |
| 2007 | | Mitochondrial fission and fusion mediators, hFis1 and OPA1, modulate cellular senescence. | 김수정, 정선용, 조혜성 |
| 2008 | | Molecular diagnosis of fragile X syndrome in a female child | 김현주, 정선용 |
| 2012 | | Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations | 박동하, 윤수한, 정선용 |
| 2013 | | Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. | 김현주, 손영배, 정선용 |
| 2012 | | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism | 김현주, 정선용 |
| 2007 | | National survey for genetic counseling and demands for Professional genetic counselor | 김현주, 정윤석 |
| 2021 | | Neurofibromin deficiency causes epidermal growth factor receptor upregulation through the activation of Ras/ERK/SP1 signaling pathway in neurofibromatosis type 1-associated malignant peripheral nerve sheet tumor | 김정현, 박건후, 박은국, 이창근, 정선용 |
| 2019 | | Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia | 손영배 |
| 2018 | | Neuroprotective Effects of Schisandra chinensis and Ribes fasciculatum Extract on Hydrogen Peroxide-Mediated Oxidative Stress in Neuroblastic SH-SY5Y Cell Line | 박은국, 정선용 |
| 2013 | | NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. | 김영배, 손영배, 임현이, 정선용, 진현석, 한재호 |
| 2010 | | Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension. | 진현석 |
| 2004 | | Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia. | 김현주 |
| 2010 | | Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. | 고정민 |
| 2009 | | Novel Therapies for Type 2 Diabetes Mellitus | 고정민 |
| 2013 | | Obesity and calcinosis cutis: characteristic early signs of infantile pseudohypoparathyroidism. | 손영배, 이은소, 조재호, 황진순 |
