| 2012 | | A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene | 손영배 |
| 2010 | | A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. | 김옥화, 김현주, 정선용 |
| 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 |
| 2016 | | Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients | 손영배 |
| 2013 | | Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations. | 손영배, 정선용, 진현석 |
| 2017 | | Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype | 손영배 |
| 2010 | | Clinical features and outcomes of holoprosencephaly in Korea. | 고정민, 김성환 |
| 2012 | | Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency | 김옥화, 손영배 |
| 2019 | | Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis | 손영배, 장주영 |
| 2015 | | Disease-specific growth charts for Korean infants with Prader-Willi syndrome. | 손영배 |
| 2015 | | Disease-specific Growth Charts of Marfan Syndrome Patients in Korea. | 손영배 |
| 2014 | | First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1. | 손영배 |
| 2013 | | Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study. | 정윤석, 진현석 |
| 2013 | | Genome-wide association study of serum albumin:globulin ratio in Korean populations. | 진현석 |
| 2014 | | Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. | 손영배, 정선용 |
| 2020 | | Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing | 금창대, 노정기, 이해상, 정선용, 정재연, 황진순 |
| 2014 | | Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. | 이기영, 임신영, 정선용 |
| 2014 | | Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome). | 손영배 |
| 2010 | | KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect. | 고정민, 황진순 |
| 2020 | | Loss of Heterozygosity at Chromosome 16q Is a Negative Prognostic Factor in Korean Pediatric Patients with Favorable Histology Wilms Tumor: A Report of the Korean Pediatric Hematology Oncology Group (K-PHOG) | 노오규, 박준은, 이용희, 정선용 |
| 2016 | | Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls | 권은별, 이해상, 정선용, 황진순 |
| 2013 | | Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. | 김현주, 손영배, 정선용 |
| 2010 | | Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension. | 진현석 |
| 2012 | | Pathologic diagnosis of recurrent glioblastoma: morphologic, immunohistochemical, and molecular analysis of 20 paired cases | 김보영, 김세혁, 김영배, 김장희, 신승수, 이기범, 이현우, 정선용, 한재호 |
| 2011 | | Replicated association between genetic variation in the PARK2 gene and blood pressure. | 정선용, 진현석 |
| 2015 | | Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome. | 손영배 |
| 2011 | | SCA in Korea and its regional distribution: a multicenter analysis. | 김현주, 용석우 |
| 2016 | | Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization | 손영배 |
| 2014 | | The effect of Lycii Radicis Cortex extract on bone formation in vitro and in vivo. | 김정현, 박은국, 정선용, 정윤석, 조두연 |
| 2015 | | The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses. | 손영배, 임신영 |
| 2020 | | The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects | 손영배 |
| 2022 | | The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure | 손영배 |
| 2013 | | The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea. | 손영배 |
| 2012 | | Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence | 손영배 |
