| 2007 | 16q-linked autosomal dominant cerebellar ataxia in a Korean family. | 이필휴, 정선용, 김현주 |
| 2008 | A case of Birt-Hogg-Dubé syndrome. | 정선용, 김현주, 김유찬 |
| 2007 | A Case of Down`s Syndrome with Thyrotoxic Crisis | 김현주, 김혜진, 김대중, 이관우, 정윤석 |
| 2007 | A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation. | 김혜진, 김대중, 이관우, 정선용, 김현주, 정윤석 |
| 2007 | A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene | 김혜진, 정윤석, 이관우, 정선용, 김현주, 김대중 |
| 2008 | A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene | 김현주, 김미란, 주희재, 정윤석 |
| 2009 | A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia | 고정민, 곽규성, 김현주 |
| 2010 | A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. | 정선용, 김현주, 김옥화 |
| 2009 | A Review on Professional non-MD Genetic Counselors for Education and Accreditation in Korea | 김현주 |
| 2009 | A Study on Genetic Counseling Curriculum, Accreditation of the Training Program, and the Certification Process of Genetic Counselors in Korea | 김현주 |
| 2011 | Acquisition of a BCR-ABL1 transcript in a patient with disease progression from MDS with fibrosis to AML with myelodysplasia-related changes. | 이현우, 정성현, 박준성, 김효철, 김현주, 조성란 |
| 2010 | Acute myeloid leukemia with t(16;21)(q24;q22) and eosinophilia: case report and review of the literature. | 박일중, 박준은, 김현주, 이위교, 조성란 |
| 2011 | Acute promyelocytic leukemia with complex translocation t(5 | 조성란, 김현주, 박일중, 정현주, 박준은 |
| 2013 | Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study. | 김현주, 임신영, 손영배 |
| 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. | 하만준, 이영미, 김현주, 김완기 |
| 2001 | Atypical Urodynamic Findings in Cauda Equina Injury | 김현주 |
| 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 |
| 2011 | Clinical and genetic characteristics of Korean patients with Gaucher disease. | 정선용, 김현주 |
| 2003 | Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds. | 방오영, 허균, 이필휴, 김현주 |
| 2008 | Cochlear implantation and connexin expression in the child with keratitis-ichthyosis-deafness syndrome. | 정연훈, 김현주, 김유찬, 안재홍, 최성준, 정선용, 박기현 |
| 2010 | Cognitive Profile of Children with Williams Syndrome: Comparison with Children with Prader-Willi Syndrome and Down Syndrome | 임신영, 김현주 |
| 2008 | Comparison of multiplex reverse transcription polymerase chain reaction and conventional cytogenetics as a diagnostic strategy for acute leukemia. | 박준성, 정성현, 이현우, 강석윤, 최진혁, 김효철, 박준은, 임영애, 김현주, 조성란 |
| 2007 | Controversial issues in the legal restriction for Prenatal genetic testing in Korea | 정선용, 김현주 |
| 2012 | Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1 | 손영배, 안영실, 이수진, 최진욱, 정선용, 김현주 |
| 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 | Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease. | 김현주 |
| 2008 | Fragile X syndrome in Korea: a case series and a review of the literature. | 임신영, 김현주 |
| 2007 | Genetic counseling in Korean health care system | 김현주 |
| 2009 | Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis. | 유재은, 정선용, 박문성, 김현주, 윤수한 |
| 1999 | Hepatopulmonary syndrome in Gaucher disease with right-to-left shunt: evaluation and measurement using Tc-99m MAA. | 박찬희, 한명호, 김현주 |
| 2010 | Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. | 김현주, 정선용, 정연훈, 김유찬 |
| 2011 | Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach. | 정선용, 김현주 |
| 2008 | Identification of differentially expressed genes related to NF1-associated malignant transformation from a patient with neurofibromatosis type 1. | 정선용, 한재호, 김현주 |
| 2012 | Inhibition of Bcl-xL by ABT-737 enhances chemotherapy sensitivity in neurofibromatosis type 1-associated malignant peripheral nerve sheath tumor cells | 김보영, 진현석, 김현주, 한재호, 임현이, 정선용 |
| 2010 | Loss of Y chromosome in the malignant peripheral nerve sheet tumor of a patient with Neurofibromatosis type 1. | 정선용, 김현주 |
| 2008 | Molecular diagnosis of fragile X syndrome in a female child | 정선용, 김현주 |
| 2008 | Multiple endocrine neoplasia type 1 with multiple leiomyomas linked to a novel mutation in the MEN1 gene. | 정선용, 김현주 |
| 2013 | Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. | 손영배, 정선용, 김현주 |
| 2012 | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism | 정선용, 김현주 |
| 2006 | Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. | 김현주 |
| 2007 | National survey for genetic counseling and demands for Professional genetic counselor | 정윤석, 김현주 |
| 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. | 방오영, 이필휴, 김선용, 김현주, 허균 |
| 2011 | SCA in Korea and its regional distribution: a multicenter analysis. | 용석우, 김현주 |
| 2007 | Spinocerebellar ataxia 7 (SCA7) | 정선용, 김현주 |
| 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 |
| 2005 | The effect of relaxation therapy on patient's pain following a total knee replacement | 김현주 |
| 2007 | The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome | 김현주 |
| 2006 | The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1. | 정선용, 박상진, 김현주 |
| 2009 | Two cases of acute myeloid leukemia with t(16;21)(p11;q22) and TLS/FUS-ERG fusion transcripts. | 박일중, 이현우, 박준성, 김효철, 김현주, 한재호, 조성란 |
| 2006 | Y chromosome loss and other genomic alterations in hepatocellular carcinoma cell lines analyzed by CGH and CGH array. | 박상진, 정선용, 김현주 |
