|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
|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
|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
|Establishment and characterisation of patient-derived xenografts as paraclinical models for gastric cancer|
YY Choi, JE Lee, H Kim, MH Sim, KK Kim, G Lee, HI Kim, JY An, ...
Scientific reports 6 (1), 1-12, 2016
|An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development|
ST Baek, B Copeland, EJ Yun, SK Kwon, A Guemez-Gamboa, ...
Nature medicine 21 (12), 1445-1454, 2015
|Analysis of whole transcriptome sequencing data: workflow and software|
IS Yang, S Kim
Genomics & informatics 13 (4), 119, 2015
|Neopepsee: accurate genome-level prediction of neoantigens by harnessing sequence and amino acid immunogenicity information|
S Kim, HS Kim, E Kim, MG Lee, EC Shin, S Paik
Annals of Oncology 29 (4), 1030-1036, 2018
|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 (8), 1-17, 2013
|A systems approach to predict oncometabolites via context-specific genome-scale metabolic networks|
H Nam, M Campodonico, A Bordbar, DR Hyduke, S Kim, DC Zielinski, ...
PLoS computational biology 10 (9), e1003837, 2014
|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), 1-12, 2019
|Next-generation sequencing reveals somatic mutations that confer exceptional response to everolimus|
SM Lim, HS Park, S Kim, S Kim, SM Ali, JR Greenbowe, IS Yang, ...
Oncotarget 7 (9), 10547, 2016
|Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy|
A Ko, SE Youn, SH Kim, JS Lee, S Kim, JR Choi, HD Kim, ST Lee, ...
Epilepsy research 141, 48-55, 2018
|Wessim: a whole-exome sequencing simulator based on in silico exome capture|
S Kim, K Jeong, V Bafna
Bioinformatics 29 (8), 1076-1077, 2013
|Molecular diagnostic assays and clinicopathologic implications of MET exon 14 skipping mutation in non–small-cell lung cancer|
EK Kim, KA Kim, CY Lee, S Kim, S Chang, BC Cho, HS Shim
Clinical lung cancer 20 (1), e123-e132, 2019
|Next-generation sequencing reveals novel resistance mechanisms and molecular heterogeneity in EGFR-mutant non-small cell lung cancer with acquired resistance to EGFR-TKIs|
C Lee, S Kim, JS Lee, JE Lee, S Kim, IS Yang, HR Kim, JH Lee, S Kim, ...
Lung Cancer 113, 106-114, 2017
|ISOexpresso: a web-based platform for isoform-level expression analysis in human cancer|
IS Yang, H Son, S Kim, S Kim
BMC genomics 17 (1), 1-14, 2016
|Exome sequencing reveals recurrent REV3L mutations in cisplatin-resistant squamous cell carcinoma of head and neck|
KK Huang, KW Jang, S Kim, HS Kim, SM Kim, HJ Kwon, HR Kim, HJ Yun, ...
Scientific reports 6 (1), 1-10, 2016
|The use of technical replication for detection of low-level somatic mutations in next-generation sequencing|
J Kim, D Kim, JS Lim, JH Maeng, H Son, HC Kang, H Nam, JH Lee, S Kim
Nature communications 10 (1), 1-11, 2019
|Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation|
NS Sim, Y Seo, JS Lim, WK Kim, H Son, HD Kim, S Kim, HJ An, HC Kang, ...
Neurology Genetics 4 (6), 2018
|Investigating the feasibility of targeted next-generation sequencing to guide the treatment of head and neck squamous cell carcinoma|
SM Lim, SH Cho, IG Hwang, JW Choi, H Chang, MJ Ahn, KU Park, ...
Cancer research and treatment: official journal of Korean Cancer Association …, 2019