Publications


Park SM, Lim JS, Ramakrishina S, Kim SH, Kim WK, Lee J,  Kang HC, Reiter J,  Kim DS,  Kim H, Lee JHBrain somatic mutations in MTOR disrupt neuronal ciliogenesis leading to focal cortical dyslamination. Neuron in press


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


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 Jun 22. pii: btw383. [Epub ahead of print]


Lee JH. Somatic mutations in disorders with disrupted brain connectivity. Exp Mol Med 2016 Jun 10;48:e239. doi: 10.1038/emm


Lim JS, Lee JH. Brain somatic mutations in MTOR leading to focal cortical dysplasia. BMB Rep. 2016 Feb;49(2):71-2


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 Apr;21(4):395-400 (*, + equally contributed)


Lim JS, Lee JH. Molecular Genetic Decoding of Malformations of Cortical Development. J Genet Med 2015;12(1):12-18 


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.


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. (*,# equally contributed) 


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.


 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. (*,+ equally contributed)


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 U S A. 2008 Aug 26;105(34):12575-80. (* equally contributed)


 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. 


Books

1. 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


2. 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