| 2017 | | A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes | 손영배, 송형근, 정윤석, 최용준 |
| 2000 | | A novel germ line juxtamembrane Met mutation in human gastric cancer. | 이재호, 조혜성, 한상욱 |
| 2010 | | A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. | 김옥화, 김현주, 정선용 |
| 2000 | | A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case. | 한시훈 |
| 2011 | | CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. | 김옥화 |
| 2015 | | Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene. | 손영배 |
| 2000 | | Connexin26 mutations associated with nonsyndromic hearing loss. | 박기현, 박홍준, 전영명, 한시훈 |
| 2018 | | Craniofacial anomalies associated with spondyloenchondrodysplasia: Two case reports | 강정현, 이정근 |
| 2013 | | Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA. | 손영배 |
| 2002 | | Functional study of GJB2 in hereditary hearing loss. | 문성균, 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 |
| 2017 | | Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies | 김정현 |
| 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 |
| 2016 | | Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls | 권은별, 이해상, 정선용, 황진순 |
| 2013 | | Multidrug-resistant hepatitis B virus resulting from sequential monotherapy with lamivudine, adefovir, and entecavir: clonal evolution during lamivudine plus adefovir therapy. | 김순선, 정재연, 조성원 |
| 2014 | | Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy | 김옥화 |
| 2019 | | Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia | 손영배 |
| 2010 | | Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene. | 김성환, 황진순 |
| 2010 | | Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. | 김옥화 |
| 2022 | | Omicron: A Heavily Mutated SARS-CoV-2 Variant Exhibits Stronger Binding to ACE2 and Potently Escapes Approved COVID-19 Therapeutic Antibodies | SHAH, MASAUD, 우현구 |
| 2014 | | Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. | 김옥화 |
| 2014 | | Perturbation of NCOA6 leads to dilated cardiomyopathy. | 박찬배 |
| 2015 | | Phosphorylation of phosphatidylinositol 4-phosphate 5-kinase γ by Akt regulates its interaction with talin and focal adhesion dynamics. | 이상윤, 주일로 |
| 2017 | | PLK4 phosphorylation of CP110 is required for efficient centriole assembly | 장재락 |
| 2012 | | Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation | 황진순 |
| 2011 | | Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. | 김옥화 |
| 2005 | | Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas. | 김대중, 이관우 |
| 2012 | | TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients | 김옥화 |
| 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 |
| 2019 | | Ufd1 phosphorylation at serine 229 negatively regulates endoplasmic reticulum-associated degradation by inhibiting the interaction of Ufd1 with VCP | 이상윤 |
| 2011 | | Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. | 김옥화 |
