In addition to research articles, we have also published Book chapters and Conference presentations (equal contribution: *, corresponding authors: †).

2024

• Kim SW, Lee H, Song DY, Lee G-H, Ji J, Park JW, Han JH, Lee JW, Byun HJ, Son JH, Kim YR, Lee Y, Kim J, Jung A, Lee J, Kim E, Kim SH, Lee JH, Satterstrom FK, Girirajan S, Brøglum AD, Grove J, Kim E, Werling DM, Yoo HJ, An J-Y. “Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism.” Gonome Med. 2024 Sep 27;16(1):114.
• Kim J, Park SM, Koh HY, Ko A, Kang H-C, Chang WS, Kim DS, Lee JH. “Threshold of somatic mosaicism leading to brain dysfunction with focal epilepsy.” Brain 2024 Sep 3;147(9):2983-2990.
• Kim IB, Kim MH, Jung S, Kim WK, Lee J, Ju YS, Webster MJ, Kim S, Kim JH, Kim HJ, Kim J, Kim S, Lee JH. “Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.” Exp Mol Med. 2024 Aug;56(8):1750-1762.

2023

• Kim JH, Park J-H, Lee J, Park JW, Kim HJ, Chang WS, Kim D-S, Ju YS, Aronica E, Lee JH. “Ultra-Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II.” Ann Neurol 2023 Jan 26; 93(6):1082-1093.
• Lee E, Lee EA, Kong E, Chon H, Llaiqui-Condori M, Park CH, Park BY, Kang NR, Yoo J-S, Lee H-S, Kim H-S, Park S-H, Choi, S-W, Vestweber D, Lee JH, Kim P, Lee WS, Kim I. “An agonistic anti-Tie2 antibody suppresses the normal-to-tumor vascular transition in the glioblastoma invasion zone.” Exp Mol Med. 2023;55(2):470-484.
• Hong Y, Kim HJ, Park S, Yi S, Lim MA, Lee SE, Chang JW, Won H-R, Kim J-Ryong, Ko H, Kim S-Y, Kim S-K, Park J-L, Chu I-S, Kim JM, Kim KH, Lee JH, Ju YS, Shong M, Koo BS, Park W-Y, Kang YE. “Single Cell Analysis of Human Thyroid Reveals the Transcriptional Signatures of Aging.” Endocrinology 2023 Feb 15;164(4):bqad029.
• Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang H-C, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D’Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group. “Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.” Neurology 2023 Jan 31;100(5):e528-e542.

2022

• Kim JH*, Hwang S*, Son H, Kim D, Kim IB, Kim M-H, Sim NS, Kim DS, Ha Y-J, Lee J, Kang H-C, Lee JH†, Kim S†. “Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development.” PLoS Genet 2022 Sep 19;18(9):e1010404.
• Paik H, Lee J, Jeong CS, Park JS, Lee JH, Rappoport N, Kim Y, Sohn HY, Jo C, Kim J, Cho SB. “Identification of a pleiotropic effect of ADIPOQ on cardiac dysfunction and Alzheimer’s disease based on genetic evidence and health care records.” Transl Psychiatry 2022 Sep 16;12(1):389.
• Park JH, Kim CW, Kim HJ, Kim HJ, Lee JH, Lee HK. “Protocol to analyze antitumor immunity of orthotopic injection and spontaneous murine high-grade glioma models using flow cytometry and single-cell RNA sequencing.” STAR Protoc 2022 Aug 8;3(3):101607.
• Najm I, Lal D, Alonso Vanegas M, Cendes F, Lopes-Cendes I, Palmini A, Paglioli E, Sarnat HB, Walsh CA, Wiebe S, Aronica E, Baulac S, Coras R, Kobow K, Cross JH, Garbelli R, Holthausen H, Rössler K, Thom M, El-Osta A, Lee JH, Miyata H, Guerrini R, Piao YS, Zhou D, Blümcke I. “The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission.” Epilepsia 2022 Aug;63(8):1899-1919.
• Kang HJ, Kim DS, Kim SH, Lee JH, Ko A, Kim SH, Lee JS, Kim HD, Kang HC. “Epilepsy with SLC35A2 Brain Somatic Mutations in Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE).”  Ann Child Neurol 2022 July;30(3):88-94.
• Kim IB*, Lee T*, Lee J*, Kim J, Koh IG, Kim JH, An J-Y, Lee H, Kim WK, Ju YS, Cho Y, Yu SJ, Kim SA, Oh M, Han DW, Kim E†, Choi JK†, Yoo HJ†, Lee JH†. “Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.” Mol Psychiatry 2022 July 15; 27(11):4680-4694.
• Lee S, Lee JH†. “Brain somatic mutations as RNA therapeutic targets in neurological disorders.” Ann NY Acad Sci. 2022 May; 1514(1):11-20.
• Ko A, Sim NS, Choi HS, Yang D, Kim SH, Lee JS, Kim DS, Lee JH, Kim HD, Kang HC. “Efficacy of the Ketogenic Diet for Pediatric Epilepsy According to the Presence of Detectable Somatic mTOR Pathway Mutations in the Brain.” J Clin Neurol 2022 Jan;18(1):71-78.

2021

• Kim S*, Baldassari S*, Sim NS, Chipaux M, Dorfmüller G, Kim DS, Chang WS, Taly V, Lee JH†, Baulac S†. “Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients.” Ann Neurol. 2021 Jun; 89(6):1248-1252.
• KimM-H, Kim IB, Lee J, Cha DH, Park SM, Kim JH, Kim R, Park JS, An Y, Kim K, Kim S, Webster MJ, Kim S†, Lee JH†. “Low-level brain somatic mutations are implicated in schizophrenia.” Biol Psychiatry 2021 Feb 4; 90(1):35-46.
• Kim HJ, Park JW, Lee JH. “Genetic Architectures and Cell-of-Origin in Glioblastoma.” Front Oncol 2021 Jan 21; 10:615400.
• Bonduelle T, Hartlieb T, Baldassari S, Sim NS, Kim SH, Kang HC, Kobow K, Coras R, Chipaux M, Dorfmüller G, Adle-Biassette H, Aronica E, Lee JH, Blumcke I, Baulac S. “Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).” Acta Neuropathol Commun 2021 Jan 6;9(1):3.

2020

• Park HJ, Shin CH, Yoo WJ, Cho TJ, Kim MJ, Seong MW, Park SS, Lee JH, Sim NS, Ko JM. “Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.” Orphanet Rare Dis 2020 Aug 10; 15(1):205.
• Ju Y, Park JS, Kim D, Kim B, Lee JH, Nam Y, Yoo HW, Lee BH, Han YM. “SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.” Stem Cell Res Ther 2020 June 3;11(1):209.
• Park SA, Jung JM, Park JS, Lee JH, Park B, Kim HJ, Park JH, Chae WS, Jeong JH, Choi SH, Baek JH. “SWATH-MS analysis of cerebrospinal fluid to generate a robust battery of biomarkers for Alzheimer’s disease.” Sci Rep 2020 May 4;10(1):7423.
• Yoon SJ, Park J, Jang DS, Kim HJ, Lee JH, Jo E, Choi RJ, Shim JK, Moon JH, Kim EH, Chang JH, Lee JH, Kang SG. “Glioblastoma Cellular Origin and the Firework Pattern of Cancer Genesis from the Subventricular Zone.” J Korean Neurosurg Soc 2020 Jan;63(1):26-33.

2019

• Kim JK, Cho J, Kim SH, Kang HC, Kim DS, Kim VN, Lee JH. “Brain Somatic Mutations in MTOR Reveal Translational Dysregulations Underlying Intractable Focal Epilepsy.” J Clin Invest 2019 Oct 1;129(10):4207-4223.
• Sim NS, Ko A, Kim WK, Kim SH, Kim JS, Shim KW, Aronica E, Mijnsbergen C, Spliet WGM, Koh HY, Kim HD, Lee JS, Kim DS, Kang HC†, Lee JH†. “Precise detection of low-level somatic mutation in resected epilepsy brain tissue.” Acta Neuropathol 2019 Aug 3;138:901-912.
• Lee EJ, Kim N, Park JW, Kang KH, Kim WI, Sim NS, Jeong CS, Blackshaw S, Vidal M, Huh SO, Kim D, Lee JH, Kim JW. ” Global analysis of intercellular homeodomain protein transfer.” Cell Rep 2019 July 16; 28(3):712-722.e3.
• Park JS^*, Lee J^*, JungES, Kim MH, Kim IB, Son H, Kim S, Kim S, Park YM, Mook-Jung I, Yu SJ^†, Lee JH^†. “Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation.” Nat Commun 2019 July 12; 10(1):3090.
• Park SM, Jang HJ, Lee JH. ” Roles of primary cilia in the developing brain.” Front Cell Neurosci 2019 May 14; 13:218. doi: 10.3389/fncel.2019.00218.
• Kim JK, Lee JH. “Mechanistic target of rapamycin pathway in epileptic disorders.” J Korean Neurosurg Soc 2019 May 1; 62(3):272-287.
• Hong H, Joo K, Park SM, Seo J, Kim MH, Shin EB, Cheong HI, Lee JH, Kim J. “Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis.” Ann Neurol 2019 April 20; 86(1):99-115.
• Kim J, Kim D, Lim JS, Maeng JH, Son H, Kang HC, Nam H, Lee JH^†, Kim S^†. “The use of technical replication for detection of low-level somatic mutations in next-generation sequencing.” Nat Commun 2019 Mar 5; 10(1):1047.

2018

• Sim NS, Seo Y, Lim JS, Kim WK, Son H, Kim HD, Kim S, An HJ, Kang HC, Kim SH, Kim DS, Lee JH. “Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation.”  Neurol Genet 2018 Dec 5; 4(6):e294.
• Kim H, Kim S, Sim NS, Pasquinelli C, Thielscher A, Lee JH, Lee HJ. “Miniature ultrasound ring array transducers for transcranial ultrasound neuromodulation of freely-moving small animals.” Brain Stimul 2018 Nov 17; 12(2):251-255.
• Koh HY, Lee JH. “Brain somatic mutations in epileptic disorders.” Mol Cells 2018 Oct 31; 41(10):881-888.
• Lee JH, Lee JH. “The origin-of-cell harboring cancer-driving mutations in human glioblastoma.” BMB Rep 2018 Oct; 51(10):481-483.
• Koh HY, Kim SH, Jang J, Kim H, Han S, Lim JS, Son G, Choi J, Park BO, Heo WD, Han J, Lee HJ, Lee D, Kang HC, Shong M, Paik SB, Kim DS, Lee JH. “BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors.” Nature Medicine 2018 September 17; 24(11):1662-1668.
• Lee JH^*,Lee JE^*, Kahng JY, Kim SH, Park JS, Yoon SJ, Um J-Y, Kim WK, Lee J-K, Park J, Kim EH, Lee J-H, Lee J-H, Chung W-S, Ju YS, Park S-H, Chang JH, Kang S-G^†, Lee JH^†. “Human glioblastoma arises from subventricular zone cells with low-level driver mutations.” Nature 2018 August 01; 560(7717):243-247.
• Park SM, Lim JS, Ramakrishina S, Kim SH, Kim WK, Lee J, Kang HC, Reiter J, Kim DS, Kim H, Lee JH. “Brain somatic mutations in MTOR disrupt neuronal ciliogenesis leading to focal cortical dyslamination.” Neuron 2018 July 11; 99(1):83-97.e7.

2017

• Lim JS, Gopalappa R, Kim SH, Ramakirshna, Lee M, Kim WI, Kim J, Park SM, Lee J, Oh JH, Kim HD, Park CH, Lee JS, Kim SW, Kim DS, Han JM, Kang HC, Kim HB^†, Lee JH^†. “Somatic mutations in TSC1 and TSC2 cause focal cortical dysplasia.” Am J Hum Genet 2017 Mar 2; 100(3):454-472.

2016

• Kim J, Maeng JH, Lim JS, Son H, Lee J, Lee JH, Kim S. “Vecuum: identification and filtration of false somatic variants caused by recombinant vector contamination.” Bioinformatics 2016 Oct 15; 32(20):3072-3080.
• Lee JH. “Somatic mutations in disorders with disrupted brain connectivity.” Exp Mol Med 2016 Jun 10;48:e239.
• Lim JS, Lee JH. “Brain somatic mutations in MTOR leading to focal cortical dysplasia.” BMB Rep 2016 Feb 28; 49(2):71-72.

2015

• Lim JS^*, Kim WI^*, Kang HC^*, Kim SH, Park AH, Park EK, Cho YW, S Kim SW, Kim HM, Kim JA, Kim J, Rhee H, Kang SG, Kim HD, Kim D, Kim DS^†, Lee JH^†. “Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.” Nat Med 2015 Mar 23; 21(4):395-400.
• Lim JS, Lee JH. “Molecular Genetic Decoding of Malformations of Cortical Development.” J Genet Med 2015; 12(1):12-18.

2013

• Kim S, Jeong K, Bhutani K, Lee JH, Patel A, Scott E, Nam H, Lee H, Gleeson JG, Bafna V. “Virmid: accurate detection of somatic mutations with sample impurity inference.” Genome Biol 2013 Aug 29; 14(8):R90.

2012

• Ko SJ, Isozaki K, Kim I, Lee JH, Cho HJ, Sohn SY, Oh SR, Park S, Kim DG, Kim CH, Roche KW. “PKC Phosphorylation Regulates mGluR5 Trafficking by Enhancing Binding of Siah-1A.” J Neurosci 2012 Nov 14; 32(46):16391-16401.
• Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, Scott E, Bafna V, Hill KJ, Collazo A,Funari V, Russ C, Gabriel SB, Mathern GW^†, Gleeson JG^†. “De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.” Nat Genet 2012 Jun 24; 44(8):941-5.
• Martinez F, Lee JH, Lee JE, Nickerson E, Gabriel S, Al-Gazali L, Gleeson JG. “Whole Exome Sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.” J Med Genet 2012 Jun; 49(6):380-5.
• Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH, Attié-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters E, Ferro-Novick S, Woods GC, Johnson CA, Valente EM, Zaki MS, Gleeson JG. “Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.” Science 2012 Feb; 335(6071):966-9.
• Lee JE, Silhavy JL, Zaki M, Marsh SE, Bielas SL, Olvera J, Schroth J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG. “CEP41 is mutated in the ciliopathy Joubert syndrome and is required for tubulin polyglutamylation at the cilium.” Nat Genet 2012 Jan; 44(2):193-9.

Before 2012

• Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié-Bitach T, Gleeson JG. “Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.” Nat Genet 2010 Jul; 42(7):619-25.
• Lee JH, Gleeson JG. “The role of primary cilia in neuronal function.” Neurobiol Dis 2010 May; 38(2):167-72.
• Hong YH, Kim JY, Lee JH, Chae HG, Jang SS, Jeon JH, Kim CH, Kim J, Kim SJ. “Agonist-induced internalization of mGluR1a is mediated by caveolin.” J Neurochem 2009 Oct; 111(1):61-71.
• Choi JH, Yee SW, Kim MJ, Nguyen L, Lee JH, Kang JO, Hesselson S, Stryke D, Johns SJ, Kwok PY, Ferrin TE, Lee MG, Black BL, Ahituv N, Giacomini KM. “Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1.” Pharmacogenet Genomics 2009 Oct; 19(10):770-80.
• Lee JH, Lee J, Choi KY, Hepp R, Lee JY, Lim MK, Chatani-Hinze M, Roche PA, Kim DG, Ahn YS, Kim CH, Roche KW. “Calmodulin dynamically regulates the trafficking of the metabotropic glutamate receptor mGluR5.” Proc Natl Acad Sci USA 2008 Aug 26; 105(34):12575-80.
• Lee JH, Kim CH, Kim DG, Ahn YS. “Microarray analysis of differentially expressed genes in the brains of tubby mice.” Korean J Physiol Pharmacol 2009 Apr; 13(2):91-7.
• Lee JH, Kim CH, Seo GH, Lee J, Kim JH, Kim DG, Ahn YS. “Heparin attenuates the expression of TNFa-induced cerebral endothelial cells adhesion molecule.” Korean J Physiol Pharmacol 2008 Oct; 12(5):231-6.
• Lee JH, Lee J, Seo GH, Kim CH, Ahn YS. “Heparin inhibits NF-kappa B activation and increases cell death in cerebral endothelial cells after oxygen-glucose deprivation.” J Mol Neurosci 2007; 32(2):145-54.
• Choi JH, Ahn BM, Yi J, Lee JH, Lee JH, Nam SW, Chon CY, Han KH, Ahn SH, Jang IJ, Cho JY, Suh Y, Cho MO, Lee JE, Kim KH, Lee MG. “MRP2 haplotypes confer differential susceptibility to toxic liver injury.” Pharmacogenet Genomics 2007 Jun; 17(6):403-15.