| 2010 | | Acute myeloid leukemia with t(16;21)(q24;q22) and eosinophilia: case report and review of the literature. | 김현주, 박일중, 박준은, 이위교, 조성란 |
| 2015 | | Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene. | 손영배 |
| 2016 | | Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients | 손영배 |
| 2013 | | Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1. | 손영배, 임신영 |
| 2011 | | Clinical and genetic characteristics of Korean patients with Gaucher disease. | 김현주, 정선용 |
| 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 characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency. | 고정민 |
| 2013 | | Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. | 손영배 |
| 2010 | | Clinical features and outcomes of holoprosencephaly in Korea. | 고정민, 김성환 |
| 2017 | | Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis | 손영배 |
| 2012 | | Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency | 김옥화, 손영배 |
| 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 |
| 2019 | | Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial | 손영배 |
| 2013 | | Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA. | 손영배 |
| 2013 | | Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests. | 손영배 |
| 2010 | | Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. | 김유찬, 김현주, 정선용, 정연훈 |
| 2014 | | Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis. | 손영배 |
| 2011 | | Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach. | 김현주, 정선용 |
| 2018 | | Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder | 김정현, 박찬배, 이영수, 임신영, 정선용 |
| 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 | | Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome). | 손영배 |
| 2010 | | Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome. | 고정민 |
| 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 |
| 2012 | | Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations | 박동하, 윤수한, 정선용 |
| 2012 | | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism | 김현주, 정선용 |
| 2015 | | Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome. | 손영배 |
| 2021 | | Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome | 손영배 |
| 2014 | | TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions. | 손영배, 임현이, 정선용, 한재호 |
| 2020 | | The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects | 손영배 |
