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Jeong Ho Lee
Jeong Ho Lee
在 kaist.ac.kr 的电子邮件经过验证
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引用次数
引用次数
年份
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
JH Lee, M Huynh, JL Silhavy, S Kim, T Dixon-Salazar, A Heiberg, E Scott, ...
Nature genetics 44 (8), 941-945, 2012
7102012
Human glioblastoma arises from subventricular zone cells with low-level driver mutations
JH Lee, JE Lee, JY Kahng, SH Kim, JS Park, SJ Yoon, JY Um, WK Kim, ...
Nature 560 (7717), 243-247, 2018
6742018
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
JS Lim, W Kim, HC Kang, SH Kim, AH Park, EK Park, YW Cho, S Kim, ...
Nature medicine 21 (4), 395-400, 2015
5012015
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
EM Valente, CV Logan, S Mougou-Zerelli, JH Lee, JL Silhavy, F Brancati, ...
Nature genetics 42 (7), 619-625, 2010
3362010
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
FJ Martinez, JH Lee, JE Lee, S Blanco, E Nickerson, S Gabriel, M Frye, ...
Journal of medical genetics 49 (6), 380-385, 2012
2382012
Somatic mutations in TSC1 and TSC2 cause focal cortical dysplasia
JS Lim, R Gopalappa, SH Kim, S Ramakrishna, M Lee, W Kim, J Kim, ...
The American Journal of Human Genetics 100 (3), 454-472, 2017
2012017
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
JE Lee, JL Silhavy, MS Zaki, J Schroth, SL Bielas, SE Marsh, J Olvera, ...
Nature genetics 44 (2), 193-199, 2012
1932012
The ILAE consensus classification of focal cortical dysplasia: an update proposed by an ad hoc task force of the ILAE diagnostic methods commission
I Najm, D Lal, M Alonso Vanegas, F Cendes, I Lopes‐Cendes, A Palmini, ...
Epilepsia 63 (8), 1899-1919, 2022
1812022
MRP2 haplotypes confer differential susceptibility to toxic liver injury
JH Choi, BM Ahn, J Yi, JH Lee, JH Lee, SW Nam, CY Chon, KH Han, ...
Pharmacogenetics and genomics 17 (6), 403-415, 2007
1622007
The role of primary cilia in neuronal function
JH Lee, JG Gleeson
Neurobiology of disease 38 (2), 167-172, 2010
1592010
Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation
JS Park, J Lee, ES Jung, MH Kim, IB Kim, H Son, S Kim, S Kim, YM Park, ...
Nature communications 10 (1), 3090, 2019
1432019
Precise detection of low-level somatic mutation in resected epilepsy brain tissue
NS Sim, A Ko, WK Kim, SH Kim, JS Kim, KW Shim, E Aronica, ...
Acta neuropathologica 138, 901-912, 2019
1252019
BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors
HY Koh, SH Kim, J Jang, H Kim, S Han, JS Lim, G Son, J Choi, BO Park, ...
Nature medicine 24 (11), 1662-1668, 2018
1202018
Roles of primary cilia in the developing brain
SM Park, HJ Jang, JH Lee
Frontiers in cellular neuroscience 13, 218, 2019
1182019
Brain somatic mutations in MTOR disrupt neuronal ciliogenesis, leading to focal cortical dyslamination
SM Park, JS Lim, S Ramakrishina, SH Kim, WK Kim, J Lee, HC Kang, ...
Neuron 99 (1), 83-97. e7, 2018
1102018
Calmodulin dynamically regulates the trafficking of the metabotropic glutamate receptor mGluR5
JH Lee, J Lee, KY Choi, R Hepp, JY Lee, MK Lim, M Chatani-Hinze, ...
Proceedings of the National Academy of Sciences 105 (34), 12575-12580, 2008
1002008
Tumor hypoxia represses γδ T cell-mediated antitumor immunity against brain tumors
JH Park, HJ Kim, CW Kim, HC Kim, Y Jung, HS Lee, Y Lee, YS Ju, JE Oh, ...
Nature Immunology 22 (3), 336-346, 2021
992021
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus
JH Lee, JL Silhavy, JE Lee, L Al-Gazali, S Thomas, EE Davis, SL Bielas, ...
Science 335 (6071), 966-969, 2012
992012
Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
T Bonduelle, T Hartlieb, S Baldassari, NS Sim, SH Kim, HC Kang, ...
Acta neuropathologica communications 9, 1-13, 2021
962021
Virmid: accurate detection of somatic mutations with sample impurity inference
S Kim, K Jeong, K Bhutani, JH Lee, A Patel, E Scott, H Nam, H Lee, ...
Genome biology 14, 1-17, 2013
852013
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