| 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 | 734 | 2012 |
| 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 | 696 | 2018 |
| 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 | 534 | 2015 |
| 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 | 345 | 2010 |
| 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 | 250 | 2012 |
| 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 | 243 | 2022 |
| 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 | 213 | 2017 |
| 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 | 196 | 2012 |
| 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 | 163 | 2007 |
| The role of primary cilia in neuronal function JH Lee, JG Gleeson Neurobiology of disease 38 (2), 167-172, 2010 | 160 | 2010 |
| 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 | 158 | 2019 |
| 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 | 140 | 2019 |
| 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 | 127 | 2018 |
| Roles of primary cilia in the developing brain SM Park, HJ Jang, JH Lee Frontiers in cellular neuroscience 13, 218, 2019 | 122 | 2019 |
| 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 | 116 | 2021 |
| 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 | 112 | 2021 |
| 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 | 112 | 2018 |
| 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 | 102 | 2012 |
| 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 | 101 | 2008 |
| 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 | 89 | 2013 |
