| 2012 | | A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene | 손영배 |
| 2004 | | A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness. | 주인수, 허균 |
| 2013 | | An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family. | 김옥화 |
| 2011 | | Association of TP53 mutations with stem cell-like gene expression and survival of patients with hepatocellular carcinoma | 우현구 |
| 2010 | | Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. | 김옥화 |
| 2015 | | Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene. | 손영배 |
| 2012 | | Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients | 김구상 |
| 2003 | | Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds. | 김현주, 방오영, 이필휴, 허균 |
| 2010 | | Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency. | 고정민 |
| 2013 | | Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome. | 김옥화, 정윤석 |
| 2012 | | Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency | 김옥화, 손영배 |
| 2017 | | Clinicopathologic Characteristics and Mutational Status of Succinate Dehydrogenase Genes in Paraganglioma of the Urinary Bladder: A Multi-Institutional Korean Study | 권지은 |
| 2000 | | Connexin26 mutations associated with nonsyndromic hearing loss. | 박기현, 박홍준, 전영명, 한시훈 |
| 1995 | | E1a activation of insulin receptor gene expression is mediated by Sp1-binding sites. | 서해영 |
| 2013 | | Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA. | 손영배 |
| 2003 | | Frameshift mutations in the bax gene are not involved in development of ovarian endometrioid carcinoma. | 장기홍 |
| 2010 | | Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. | 김유찬, 김현주, 정선용, 정연훈 |
| 1995 | | Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. | 한시훈 |
| 2013 | | Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. | 김옥화 |
| 2017 | | Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies | 김정현 |
| 2014 | | Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. | 손영배, 정선용 |
| 2009 | | Identification of the amino acid sequence motif of alpha-synuclein responsible for macrophage activation. | 박상면 |
| 2016 | | Initial clinical experience with BRAF(V600E) mutation analysis of core-needle biopsy specimens from thyroid nodules | 하은주 |
| 2016 | | Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication | 정성현, 조성란, 한재호 |
| 2002 | | Molecular analysis of PCCB gene in Korean patients with propionic acidemia. | 김순남 |
| 2016 | | Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma | 이해상, 황진순 |
| 2000 | | Mutation analysis of Korean patients with citrullinemia. | 한시훈 |
| 2013 | | Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. | 김현주, 손영배, 정선용 |
| 2004 | | Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia. | 김현주 |
| 2010 | | Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. | 김옥화 |
| 2012 | | Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease | 이용희 |
| 2014 | | Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. | 김옥화 |
| 2012 | | PAPSS2 mutations cause autosomal recessive brachyolmia | 김옥화 |
| 2021 | | Presence of TERT ± BRAF V600E mutation is not a risk factor for the clinical management of patients with papillary thyroid microcarcinoma | 김형규, 노진, 이정훈, 하은주 |
| 2012 | | Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation | 황진순 |
| 2015 | | Strong immunoexpression of midkine is associated with multiple lymph node metastases in BRAFV600E papillary thyroid carcinoma. | 김장희, 박태준, 소의영, 이정훈, 최용원 |
| 2000 | | The first successful prenatal diagnosis on a Korean family with citrullinemia. | 한시훈 |
| 2005 | | Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas. | 김대중, 이관우 |
| 2015 | | VE1 antibody is not highly specific for the BRAF V600E mutation in thyroid cytology categories with the exception of malignant cases. | 김대중, 김장희, 소의영, 신승수, 이기범, 이정훈, 임현이, 정선용, 정윤석, 한재호 |
| 2011 | | Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). | 김옥화 |
