Selected publications
- IDH-mutant gliomas arise from glial progenitor cells harboring the initial driver mutation
- Precancerous Cells Initiate Glioblastoma Evolution and Contribute to Intratumoral Heterogeneity
- Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation
- BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors
- Human glioblastoma arises from subventricular zone cells with low-level driver mutations
- Brain somatic mutations in MTOR disrupt neuronal ciliogenesis leading to focal cortical dyslamination
- Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
- De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
All publications
- 2026
- Putative glioblastoma origin-like cells in the subventricular zone: isolation and characterization
- Portable duplex digital PCR for on-site detection of IDH mutations in gliomas
- Beyond the Tumor Mass: From Initiating Clones to Overt Isocitrate Dehydrogenase-Mutant Gliomas
- IDH-mutant gliomas arise from glial progenitor cells harboring the initial driver mutation
- 2025
- White Matter Injury Fuels Early Progression of Glioblastoma
- Precancerous Cells Initiate Glioblastoma Evolution and Contribute to Intratumoral Heterogeneity
- Distant origin of glioblastoma recurrence: neural stem cells in the subventricular zone serve as a source of tumor reconstruction after primary resection
- Efficacy and safety of everolimus for patients with focal cortical dysplasia type 2
- Associations between physical activities and self-harm behaviour in depression across the genotype: findings from the UK biobank
- 2024
- Somatic variant analysis of resected brain tissue in epilepsy surgery patients
- Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
- Threshold of somatic mosaicism leading to brain dysfunction with focal epilepsy
- Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes
- 2023
- Ultra-Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II
- An agonistic anti-Tie2 antibody suppresses the normal-to-tumor vascular transition in the glioblastoma invasion zone
- Single Cell Analysis of Human Thyroid Reveals the Transcriptional Signatures of Aging
- Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene
- 2022
- Estimation of intrafamilial DNA contamination in family trio genome sequencing using deviation from Mendelian inheritance
- Adrenomedullin2 stimulates progression of thyroid cancer in mice and humans under nutrient excess conditions
- Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development
- Identification of a pleiotropic effect of ADIPOQ on cardiac dysfunction and Alzheimer's disease based on genetic evidence and health care records
- Protocol to analyze antitumor immunity of orthotopic injection and spontaneous murine high-grade glioma models using flow cytometry and single-cell RNA sequencing
- The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission
- Epilepsy with SLC35A2 Brain Somatic Mutations in Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE)
- Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder
- Brain somatic mutations as RNA therapeutic targets in neurological disorders
- Efficacy of the Ketogenic Diet for Pediatric Epilepsy According to the Presence of Detectable Somatic mTOR Pathway Mutations in the Brain
- 2021
- MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis
- Tumor hypoxia represses γδ T cell-mediated antitumor immunity against brain tumors
- Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial
- Non-Cell Autonomous Epileptogenesis in Focal Cortical Dysplasia
- Molecular diagnostics in drug-resistant focal epilepsy define new disease entities
- Head and Neck Cancer Cell Death due to Mitochondrial Damage Induced by Reactive Oxygen Species from Nonthermal Plasma-Activated Media: Based on Transcriptomic Analysis
- Growth Differentiation Factor 15 is a Cancer Cell-Induced Mitokine That Primes Thyroid Cancer Cells for Invasiveness
- Balloon cells promote immune system activation in focal cortical dysplasia type 2b
- Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients
- Low-level brain somatic mutations are implicated in schizophrenia
- Genetic Architectures and Cell-of-Origin in Glioblastoma
- Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
- 2020
- Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations
- SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro
- SWATH-MS analysis of cerebrospinal fluid to generate a robust battery of biomarkers for Alzheimer's disease
- Glioblastoma Cellular Origin and the Firework Pattern of Cancer Genesis from the Subventricular Zone
- 2019
- Brain Somatic Mutations in MTOR Reveal Translational Dysregulations Underlying Intractable Focal Epilepsy
- Precise detection of low-level somatic mutation in resected epilepsy brain tissue
- Global analysis of intercellular homeodomain protein transfer
- Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation
- Roles of primary cilia in the developing brain
- Mechanistic target of rapamycin pathway in epileptic disorders
- Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis
- The use of technical replication for detection of low-level somatic mutations in next-generation sequencing
- 2018
- Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
- Miniature ultrasound ring array transducers for transcranial ultrasound neuromodulation of freely-moving small animals
- Brain somatic mutations in epileptic disorders
- The origin-of-cell harboring cancer-driving mutations in human glioblastoma
- BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors
- Human glioblastoma arises from subventricular zone cells with low-level driver mutations
- Brain somatic mutations in MTOR disrupt neuronal ciliogenesis leading to focal cortical dyslamination
- 2017
- Next-generation sequencing reveals novel resistance mechanisms and molecular heterogeneity in EGFR-mutant non-small cell lung cancer with acquired resistance to EGFR-TKIs
- Somatic mutations in TSC1 and TSC2 cause focal cortical dysplasia
- 2016
- Vecuum: identification and filtration of false somatic variants caused by recombinant vector contamination
- Somatic mutations in disorders with disrupted brain connectivity
- Brain somatic mutations in MTOR leading to focal cortical dysplasia
- 2015
- Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
- Molecular Genetic Decoding of Malformations of Cortical Development
- 2013
- Virmid: accurate detection of somatic mutations with sample impurity inference
- 2012
- PKC Phosphorylation Regulates mGluR5 Trafficking by Enhancing Binding of Siah-1A
- De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
- Whole Exome Sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
- Evolutionarily assembled cis-regulatory module at a human ciliopathy locus
- CEP41 is mutated in the ciliopathy Joubert syndrome and is required for tubulin polyglutamylation at the cilium
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
- The role of primary cilia in neuronal function
- Agonist-induced internalization of mGluR1a is mediated by caveolin
- Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1
- Calmodulin dynamically regulates the trafficking of the metabotropic glutamate receptor mGluR5
- Microarray analysis of differentially expressed genes in the brains of tubby mice
- Heparin attenuates the expression of TNFa-induced cerebral endothelial cells adhesion molecule
- Heparin inhibits NF-kappa B activation and increases cell death in cerebral endothelial cells after oxygen-glucose deprivation
- MRP2 haplotypes confer differential susceptibility to toxic liver injury
Book chapters
Book chapters
- Genomic Mosaicism in Neurons and Other Cell Types (Springer New York; 2017): Chapter 15. Genomic Analysis and In Vivo Functional Validation of Brain Somatic Mutations Leading to Focal Cortical Malformations
- Epstein's Inborn Errors of Development (Oxford University Press; 3 edition, July 29, 2016): Chapter 20. The Molecular Basis of Joubert Syndrome and Related Disorders
Conference presentations
Conference presentations
- 2018Kim JK and Lee JH. "Brain somatic mutations reveal the landscape of translational dysregulation underlying intractable epilepsy", Cold spring harbor lab – translational control meeting, September 4-8, 2018, Cold Spring Harbor Lab, New York, U.S.A.
- 2018Ko HY and Lee JH. "BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors", 21st Annual Meeting of the Korean Society for Brain and Neural Sciences (KSBNS) , August 30-31, 2018, Grand Hilton Hotel, Seoul, Republic of Korea
- 2018Kim JK and Lee JH. "Brain somatic mutations reveal the landscape of translational dysregulation underlying intractable epilepsy", 11th UK-Korea Neuroscience symposium, August 20-21, 2018, Shila Stay Haeundae, Busan, Republic of Korea
- 2018Jang HJ and Lee JH. "Reduced survival of newborn neurons contributes to cognitive deficits in ciliopathy, Joubert syndrome", The 11th UK-KOREA Neuroscience symposium, August 20-21, 2018, Hotel Shilla Stay, Haeundae, Busan, Korea
- 2018Ko HY and Lee JH. "BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors", Mechanism of Epileptogenesis, 2018 Gordon Research Conference (GRC), August 19-24, 2018, Mount Snow, Vermont, USA
- 2018Kim JK and Lee JH. "Brain somatic mutations reveal the landscape of translational dysregulation underlying intractable epilepsy", Korean Epilepsy Conference, June 15-16, 2018, Dragon city, Seoul, Republic of Korea