| 2023 | | Deep brain stimulation in Parkinson disease with valosin-containing protein gene mutation | 박동규, 윤정한 |
| 2024 | | Deep learning–radiomics integrated noninvasive detection of epidermal growth factor receptor mutations in non-small cell lung cancer patients | 김철호, 노진, 유슬기, 허재성 |
| 2010 | | Definition of ubiquitination modulator COP1 as a novel therapeutic target in human hepatocellular carcinoma. | 우현구 |
| 2019 | | Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis | 손영배, 장주영 |
| 2013 | | Dietary intake and breast cancer among carriers and noncarriers of BRCA mutations in the Korean Hereditary Breast Cancer Study. | 정용식 |
| 2018 | | Differences in prognosis and efficacy of chemotherapy by p53 expression in triple-negative breast cancer | 정용식 |
| 2024 | | Differential efficacy of tyrosine kinase inhibitors according to the types of EGFR mutations and agents in non-small cell lung cancer: a real-world study | 강석윤, 고영화, 김태환, 신승수, 안미선, 이현우, 최용원, 최진혁 |
| 2018 | | Diffusion-Weighted Imaging of Brain Metastasis from Lung Cancer: Correlation of MRI Parameters with the Histologic Type and Gene Mutation Status | 정우상 |
| 2020 | | Direct targeting of oncogenic RAS mutants with a tumor-specific cytosol-penetrating antibody inhibits RAS mutant-driven tumor growth | 이다근 |
| 2017 | | Discovery of actionable targets in liver cancer by mutation profile analysis | 최지혜 |
| 2018 | | DJ-1 deficiency impairs synaptic vesicle endocytosis and reavailability at nerve terminals | 박상면, 조은혜, 주일로, 최동주, 하태영 |
| 2017 | | Does the efficacy of epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor differ according to the type of EGFR mutation in non-small cell lung cancer? | 최용원, 최진혁 |
| 2019 | | Drp1-Zip1 Interaction Regulates Mitochondrial Quality Surveillance System | 강호철 |
| 2023 | | Dual-phase 18F-FP-CIT positron emission tomography and cardiac 123I-MIBG scintigraphy of Parkinson's disease patients with GBA mutations: evidence of the body-first type? | 박동규, 안영실, 윤정한 |
| 2018 | | Dysregulated phosphorylation of Rab GTPases by LRRK2 induces neurodegeneration | 강호철 |
| 2014 | | Efficacy and safety of radotinib in chronic phase chronic myeloid leukemia patients with resistance or intolerance to BCR-ABL1 tyrosine kinase inhibitors. | 박준성, 정성현 |
| 2018 | | EGFR Exon 19 Deletion is Associated With Favorable Overall Survival After First-line Gefitinib Therapy in Advanced Non-Small Cell Lung Cancer Patients | 강석윤, 고영화, 박준성, 신승수, 이현우, 정성현, 최용원, 최진혁, 한재호 |
| 2006 | | ERK1/2 is an endogenous negative regulator of the gamma-secretase activity. | 백은주, 정민환 |
| 2000 | | Evidence that the 5'-end cap structure is essential for encapsidation of hepatitis B virus pregenomic RNA. | 윤계순 |
| 2014 | | First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1. | 손영배 |
| 2019 | | Functional Genomic Complexity Defines Intratumor Heterogeneity and Tumor Aggressiveness in Liver Cancer | 권소미, 우현구 |
| 2016 | | G2385R and I2020T Mutations Increase LRRK2 GTPase Activity | 조은혜 |
| 2011 | | Genetic basis of congenital and infantile nephrotic syndromes. | 배기수 |
| 2013 | | Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests. | 손영배 |
| 2021 | | Genetic profiles of subcutaneous panniculitis-like t-cell lymphoma and clinicopathological impact of havcr2 mutations | 한재호 |
| 2017 | | Genetic variants of the gasdermin B gene associated with the development of aspirin-exacerbated respiratory diseases | 박해심 |
| 2023 | | Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer | 안미선 |
| 2023 | | Genotype–phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea | 배기수 |
| 2001 | | Hepatitis B virus X protein induced expression of the Nur77 gene. | 조혜성 |
| 2010 | | Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. | 김유찬, 김현주, 정선용, 정연훈 |
| 2020 | | Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion | 장재락 |
| 2021 | | High SLC2A1 expression associated with suppressing CD8 T cells and B cells promoted cancer survival in gastric cancer | 고영화 |
| 1999 | | Histochemically reactive zinc in plaques of the Swedish mutant beta-amyloid precursor protein transgenic mice. | 묵인희 |
| 2002 | | Hrp3, a chromodomain helicase/ATPase DNA binding protein, is required for heterochromatin silencing in fission yeast. | 이명애 |
| 2013 | | Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. | 김옥화 |
| 2019 | | Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes | 장정훈, 정연훈 |
| 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 |
| 2018 | | Identification of genomic aberrations associated with lymph node metastasis in diffuse-type gastric cancer | 김영배, 우현구, 이다근, 최지혜, 한상욱 |
| 2014 | | Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. | 손영배, 정선용 |
| 2011 | | Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. | 김옥화 |
| 1998 | | Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. | 조성원, 한시훈 |
| 2018 | | Identifying candidates for gamma knife radiosurgery among elderly patients with brain metastases | 김세혁, 노태훈, 유남규, 정동환 |
| 2013 | | IDH1 mutations in oligodendroglial tumors: comparative analysis of direct sequencing, pyrosequencing, immunohistochemistry, nested PCR and PNA-mediated clamping PCR. | 이다근 |
| 2004 | | IKKgamma inhibits activation of NF-kappaB by NIK. | 이광 |
| 2023 | | Immune profiles according to EGFR mutant subtypes and correlation with PD-1/PD-L1 inhibitor therapies in lung adenocarcinoma | 고영화, 박범희, 이현우, 한재호, 함석진 |
| 2014 | | Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome). | 손영배 |
| 2018 | | Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias | 장재락 |
| 2002 | | Inactivation of human peroxiredoxin I during catalysis as the result of the oxidation of the catalytic site cysteine to cysteine-sulfinic acid. | 황성철 |
| 2019 | | Increasing Prevalence of Group III Penicillin-Binding Protein 3 Mutations Conferring High-Level Resistance to Beta-Lactams Among Nontypeable Haemophilus influenzae Isolates from Children in Korea | 정현주 |
| 2019 | | Indoor radon exposure increases tumor mutation burden in never-smoker patients with lung adenocarcinoma | 신승수 |
| 2007 | | Inducing rigid local structure around the zinc-binding region by hydrophobic interactions enhances the homotrimerization and apoptotic activity of zinc-free TRAIL. | 권명희 |
| 2016 | | Initial clinical experience with BRAF(V600E) mutation analysis of core-needle biopsy specimens from thyroid nodules | 하은주 |
| 1997 | | Interaction of human T-cell lymphotropic virus type I Tax, Ets1, and Sp1 in transactivation of the PTHrP P2 promoter. | 최경숙 |
| 2019 | | Investigating the Feasibility of Targeted Next-Generation Sequencing to Guide the Treatment of Head and Neck Squamous Cell Carcinoma | 이현우 |
| 2016 | | KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients | 정용식 |
| 2024 | | Lazertinib versus Gefitinib as First-Line Treatment for EGFR-mutated Locally Advanced or Metastatic NSCLC: LASER301 Korean Subset | 최진혁 |
| 2022 | | Longitudinal monitoring by next-generation sequencing of plasma cell-free DNA in ALK rearranged NSCLC patients treated with ALK tyrosine kinase inhibitors | 권민석 |
| 2015 | | Loss of parkin promotes lipid rafts-dependent endocytosis through accumulating caveolin-1: implications for Parkinson's disease. | 박상면, 조은혜, 주일로, 차선희 |
| 2015 | | LRRK2 G2019S mutation attenuates microglial motility by inhibiting focal adhesion kinase. | 강호철, 박상면, 조은혜, 주일로 |
