| 2017 | | Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing | 손영배, 이다근, 장주영 |
| 2012 | | Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature | 손영배 |
| 2014 | | First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1. | 손영배 |
| 2013 | | Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA. | 손영배 |
| 2014 | | GATA4 negatively regulates osteoblast differentiation by downregulation of Runx2. | 변해옥, 송인선, 윤계순 |
| 2021 | | Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience | 김정택, 손영배, 조재호 |
| 2013 | | Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study. | 정윤석, 진현석 |
| 2007 | | Genetic counseling in Korean health care system | 김현주 |
| 2013 | | Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests. | 손영배 |
| 2022 | | Genetic obesity: an update with emerging therapeutic approaches | 손영배 |
| 2010 | | Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts. | 진현석 |
| 2010 | | Genetic variations in the sodium balance-regulating genes ENaC, NEDD4L, NDFIP2 and USP2 influence blood pressure and hypertension. | 진현석 |
| 2012 | | Genetic Variations of ESR1 Gene are Associated with Bone Mineral Density Traits in Korean Women | 진현석 |
| 2011 | | Genetic Variations of GNRH1, GNRHR and GPR54 Genes in Korean Girls with Central Precocious Puberty | 고정민, 이해상, 황진순 |
| 2013 | | Genome-wide association study of serum albumin:globulin ratio in Korean populations. | 진현석 |
| 2013 | | Glycogen Synthase Kinase 3 Inactivation Induces Cell Senescence through Sterol Regulatory Element Binding Protein 1-Mediated Lipogenesis in Chang Cells | 송인선, 윤계순 |
| 2013 | | Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases | 손영배, 임신영, 정윤석 |
| 1999 | | Hepatopulmonary syndrome in Gaucher disease with right-to-left shunt: evaluation and measurement using Tc-99m MAA. | 김현주, 박찬희, 한명호 |
| 2010 | | Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. | 김유찬, 김현주, 정선용, 정연훈 |
| 2014 | | Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis. | 손영배 |
