| 2007 | | 16q-linked autosomal dominant cerebellar ataxia in a Korean family. | 김현주, 이필휴, 정선용 |
| 2011 | | Age-dependent association of the polymorphisms in the mitochondria-shaping gene, OPA1, with blood pressure and hypertension in Korean population. | 정선용, 진현석 |
| 2013 | | Association between the SPRY1 gene polymorphism and obesity-related traits and osteoporosis in Korean women. | 김보영, 정선용, 정윤석, 진현석 |
| 2015 | | Association of the I264T variant in the sulfide quinone reductase-like (SQRDL) gene with osteoporosis in Korean postmenopausal women. | 김범택, 김정현, 박은국, 정선용 |
| 2020 | | Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review | 박동규, 손성향, 손영배, 윤정한 |
| 2011 | | Clinical and genetic characteristics of Korean patients with Gaucher disease. | 김현주, 정선용 |
| 2017 | | Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype | 손영배 |
| 2013 | | Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study. | 정윤석, 진현석 |
| 2010 | | Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts. | 진현석 |
| 2010 | | Genetic variations in the sodium balance-regulating genes ENaC, NEDD4L, NDFIP2 and USP2 influence blood pressure and hypertension. | 진현석 |
| 2013 | | Genome-wide association study of serum albumin:globulin ratio in Korean populations. | 진현석 |
| 2017 | | Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies | 김정현 |
| 2011 | | Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach. | 김현주, 정선용 |
| 2010 | | Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension. | 진현석 |
| 2004 | | Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia. | 김현주 |
| 2012 | | Pathologic diagnosis of recurrent glioblastoma: morphologic, immunohistochemical, and molecular analysis of 20 paired cases | 김보영, 김세혁, 김영배, 김장희, 신승수, 이기범, 이현우, 정선용, 한재호 |
| 2004 | | Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis. | 김선용, 김현주, 방오영, 이필휴, 허균 |
| 2010 | | Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population. | 진현석 |
| 2011 | | Replicated association between genetic variation in the PARK2 gene and blood pressure. | 정선용, 진현석 |
| 2017 | | STRA6 as a possible candidate gene for pathogenesis of osteoporosis from RNAseq analysis of human mesenchymal stem cells | 원예연, 정선용, 정윤석, 최용준 |
| 2020 | | The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects | 손영배 |
| 2017 | | Transcriptional profiling of human femoral mesenchymal stem cells in osteoporosis and its association with adipogenesis | 원예연, 정선용, 정윤석, 최용준 |
