2018

Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation

Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee

BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors.

Hyun Yong Koh, Se Hoon Kim, Jaeson Jang, Hyungguk Kim, Sungwook Han, Jae Seok Lim, Geurim Son, Junjeong Choi, Byung Ouk Park, Won Do Heo, Jinju Han, Hyunjoo Jenny Lee, Daeyoup Lee, Hoon-Chul Kang, Minho Shong, Se-Bum Paik, Dong Seok Kim & Jeong Ho Lee. BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors.

Human glioblastoma arises from subventricular zone cells with low-level driver mutations.

Joo Ho Lee, Jeong Eun Lee, Jee Ye Kahng, Se Hoon Kim, Jun Sung Park, Seon Jin Yoon, Ji-Yong Um, Woo Kyeong Kim, June-Koo Lee, Junseong Park, Eui Hyun Kim, Ji-Hyun Lee, Joon-Hyuk Lee, Won-Suk Chung, Young Seok Ju, Sung-Hong Park, Jong Hee Chang, Seok-Gu Kang & Jeong Ho Lee. Human glioblastoma arises from subventricular zone cells with low-level driver mutations.
Nature 2018 Aug;560:243-247.

Brain somatic mutations in MTOR disrupt neuronal ciliogenesis leading to focal cortical dyslamination.

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 Jun 9. pii: S0896-6273(18)30437-9

2017

Somatic mutations in TSC1 and TSC2 cause focal cortical dysplasia.

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

Vecuum: identification and filtration of false somatic variants caused by recombinant vector contamination.

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]

Somatic mutations in disorders with disrupted brain connectivity.

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

Brain somatic mutations in MTOR leading to focal cortical dysplasia.

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

2015

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

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.

Molecular Genetic Decoding of Malformations of Cortical Development.

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

2013

Virmid: accurate detection of somatic mutations with sample impurity inference.

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

PKC Phosphorylation Regulates mGluR5 Trafficking by Enhancing Binding of Siah-1A.

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.

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

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.

Whole Exome Sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.

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)

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

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.

CEP41 is mutated in the ciliopathy Joubert syndrome and is required for tubulin polyglutamylation at the cilium.

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.

2010

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

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)

The role of primary cilia in neuronal function.

Lee JH, Gleeson JG. The role of primary cilia in neuronal function. Neurobiol Dis. 2010 May;38(2):167-72.

2009

Agonist-induced internalization of mGluR1a is mediated by caveolin.

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.

Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1.

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

2008

Calmodulin dynamically regulates the trafficking of the metabotropic glutamate receptor mGluR5.

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)