| 2007 | | Spinocerebellar ataxia 7 (SCA7) | 김현주, 정선용 |
| 2007 | | The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome | 김현주 |
| 2007 | | Genetic counseling in Korean health care system | 김현주 |
| 2007 | | Development of medical genetics training program and certification process for medical geneticist as a specialist in Korea | 김현주 |
| 2007 | | A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation. | 김대중, 김현주, 김혜진, 이관우, 정선용, 정윤석, 최용준 |
| 2007 | | A Case of Down`s Syndrome with Thyrotoxic Crisis | 김대중, 김현주, 김혜진, 이관우, 정윤석 |
| 2007 | | A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene | 김대중, 김현주, 김혜진, 이관우, 정선용, 정윤석 |
| 2005 | | Childhood X-linked adrenoleukodystrophy: clinical-pathologic overview and MR imaging manifestations at initial evaluation and follow-up. | 김현주 |
| 2005 | | A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene | 김대중, 김연경, 김철호, 김현주, 송경은, 안상미, 이관우, 정선용, 정선혜, 정윤석 |
| 2004 | | Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis. | 김선용, 김현주, 방오영, 이필휴, 허균 |
| 2004 | | Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease. | 김현주 |
| 2004 | | Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis. | 정선용 |
| 2004 | | Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia. | 김현주 |
| 2004 | | Endophilin B1 is required for the maintenance of mitochondrial morphology. | 정선용 |
| 2004 | | Effects of Pamidronate Treatment on Osteogenesis Imperfecta | 김대중, 김현주, 이관우, 정윤석 |
| 2003 | | Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds. | 김현주, 방오영, 이필휴, 허균 |
| 2001 | | Diagnostic patterns of very-long-chain fatty acids in plasma of patients with X-linked adrenoleukodystrophy. | 김현주 |
| 2001 | | A case of slipped capital femoral epiphysis developed during growth hormone treatment | 김현만, 김현주, 이관우, 이수진, 정윤석 |
| 2000 | | Assignment of the kinesin family member 4 genes (KIF4A and KIF4B) to human chromosome bands Xq13.1 and 5q33.1 by in situ hybridization. | 김완기, 김현주, 이영미, 하만준 |
| 1999 | | Hepatopulmonary syndrome in Gaucher disease with right-to-left shunt: evaluation and measurement using Tc-99m MAA. | 김현주, 박찬희, 한명호 |
