| 2014 | | A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation | 박상욱, 손영배, 정선용 |
| 2009 | | A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia | 고정민, 곽규성, 김현주 |
| 2009 | | A Study on Genetic Counseling Curriculum, Accreditation of the Training Program, and the Certification Process of Genetic Counselors in Korea | 김현주 |
| 2008 | | Challenge of Personalized Medicine in the Genomic Era | 김현주 |
| 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 |
| 2007 | | Genetic counseling in Korean health care system | 김현주 |
| 2013 | | Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases | 손영배, 임신영, 정윤석 |
| 2013 | | Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH | 손영배 |
| 2008 | | Molecular diagnosis of fragile X syndrome in a female child | 김현주, 정선용 |
| 2007 | | National survey for genetic counseling and demands for Professional genetic counselor | 김현주, 정윤석 |
| 2010 | | Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome | 고정민, 김현주 |
| 2007 | | Spinocerebellar ataxia 7 (SCA7) | 김현주, 정선용 |
| 2016 | | Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures. | 손영배 |
| 2007 | | The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome | 김현주 |
| 2011 | | Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis | 윤수한, 정선용 |
