| 2010 | | Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency. | 고정민 |
| 2010 | | Loss of Y chromosome in the malignant peripheral nerve sheet tumor of a patient with Neurofibromatosis type 1. | 김현주, 정선용 |
| 2010 | | A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. | 김옥화, 김현주, 정선용 |
| 2010 | | Cognitive Profile of Children with Williams Syndrome: Comparison with Children with Prader-Willi Syndrome and Down Syndrome | 김현주, 임신영 |
| 2010 | | Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain | 고정민, 김찬, 한경림 |
| 2010 | | Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome | 고정민, 김현주 |
| 2010 | | A case of donor-derived granulocytic sarcoma after allogeneic hematopoietic stem cell transplantation | 강석윤, 박준성, 이현우, 정선용, 정성현, 최진혁, 한재호 |
| 2010 | | The natural history and prognostic factors of Graves’ disease in Korean children and adolescents | 고정민 |
| 2009 | | The Clinical Features, Immunostaining and Genetic Study in Duchenne/Becker Muscular Dystrophy | 고정민 |
| 2009 | | A Study on Genetic Counseling Curriculum, Accreditation of the Training Program, and the Certification Process of Genetic Counselors in Korea | 김현주 |
| 2009 | | Novel Therapies for Type 2 Diabetes Mellitus | 고정민 |
| 2009 | | A Review on Professional non-MD Genetic Counselors for Education and Accreditation in Korea | 김현주 |
| 2009 | | A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia | 고정민, 곽규성, 김현주 |
| 2008 | | Challenge of Personalized Medicine in the Genomic Era | 김현주 |
| 2008 | | Molecular diagnosis of fragile X syndrome in a female child | 김현주, 정선용 |
| 2008 | | A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene | 김미란, 김현주, 정윤석, 주희재 |
| 2007 | | Mitochondrial fission and fusion mediators, hFis1 and OPA1, modulate cellular senescence. | 김수정, 정선용, 조혜성 |
| 2007 | | 16q-linked autosomal dominant cerebellar ataxia in a Korean family. | 김현주, 이필휴, 정선용 |
| 2007 | | Controversial issues in the legal restriction for Prenatal genetic testing in Korea | 김현주, 정선용 |
| 2007 | | National survey for genetic counseling and demands for Professional genetic counselor | 김현주, 정윤석 |
