| 1996 | | Buschke-Ollendorff Syndrome(A Case Report) | 김병석, 김현주, 원예연, 이은소, 주희재, 한경진 |
| 2008 | | Challenge of Personalized Medicine in the Genomic Era | 김현주 |
| 2005 | | Childhood X-linked adrenoleukodystrophy: clinical-pathologic overview and MR imaging manifestations at initial evaluation and follow-up. | 김현주 |
| 1999 | | Clinical Analysis of 1,068 Cases of Mid-trimester Genetic Amniocentesis | 김행수, 김현주, 양정인, 오기석 |
| 2011 | | Clinical and genetic characteristics of Korean patients with Gaucher disease. | 김현주, 정선용 |
| 2003 | | Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds. | 김현주, 방오영, 이필휴, 허균 |
| 2010 | | Cognitive Profile of Children with Williams Syndrome: Comparison with Children with Prader-Willi Syndrome and Down Syndrome | 김현주, 임신영 |
| 2007 | | Controversial issues in the legal restriction for Prenatal genetic testing in Korea | 김현주, 정선용 |
| 2012 | | Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1 | 김현주, 손영배, 안영실, 이수진, 정선용, 최진욱 |
| 2007 | | Development of medical genetics training program and certification process for medical geneticist as a specialist in Korea | 김현주 |
| 2001 | | Diagnostic patterns of very-long-chain fatty acids in plasma of patients with X-linked adrenoleukodystrophy. | 김현주 |
| 2004 | | Effects of Pamidronate Treatment on Osteogenesis Imperfecta | 김대중, 김현주, 이관우, 정윤석 |
| 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 |
| 2007 | | Genetic counseling in Korean health care system | 김현주 |
| 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 |
| 2011 | | Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach. | 김현주, 정선용 |
| 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 |
| 2010 | | Loss of Y chromosome in the malignant peripheral nerve sheet tumor of a patient with Neurofibromatosis type 1. | 김현주, 정선용 |
| 2008 | | Molecular diagnosis of fragile X syndrome in a female child | 김현주, 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 |
| 2004 | | Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia. | 김현주 |
| 2013 | | Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease | 김현주, 정선용 |
| 2010 | | Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome | 고정민, 김현주 |
| 2004 | | Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis. | 김선용, 김현주, 방오영, 이필휴, 허균 |
| 2011 | | SCA in Korea and its regional distribution: a multicenter analysis. | 김현주, 용석우 |
| 2007 | | Spinocerebellar ataxia 7 (SCA7) | 김현주, 정선용 |
| 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 |
| 2007 | | The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome | 김현주 |
