MicroRNA expression profiles in gastric carcinogenesis J Hwang, BH Min, J Jang, SY Kang, H Bae, SS Jang, JI Kim, KM Kim Scientific reports 8 (1), 14393, 2018 | 86 | 2018 |
Dysregulated Wnt signalling and recurrent mutations of the tumour suppressor RNF43 in early gastric carcinogenesis BH Min, J Hwang, NKD Kim, G Park, SY Kang, S Ahn, S Ahn, SY Ha, ... The Journal of pathology 240 (3), 304-314, 2016 | 54 | 2016 |
Identifying pathogenic variants of monogenic diabetes using targeted panel sequencing in an east Asian population SS Park, SS Jang, CH Ahn, JH Kim, HS Jung, YM Cho, YA Lee, CH Shin, ... The Journal of Clinical Endocrinology & Metabolism 104 (9), 4188-4198, 2019 | 41 | 2019 |
Findings of a 1303 Korean whole-exome sequencing study SH Kwak, J Chae, S Choi, MJ Kim, M Choi, JH Chae, E Cho, SS Jang, ... Experimental & molecular medicine 49 (7), e356-e356, 2017 | 40 | 2017 |
Diagnostic yield of epilepsy panel testing in patients with seizure onset within the first year of life SS Jang, SY Kim, H Kim, H Hwang, JH Chae, KJ Kim, JI Kim, BC Lim Frontiers in neurology 10, 988, 2019 | 36 | 2019 |
Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis SS Jang, BC Lim, SK Yoo, JY Shin, KJ Kim, JS Seo, JI Kim, JH Chae Scientific reports 8 (1), 8678, 2018 | 36 | 2018 |
FARS2 mutation and epilepsy: possible link with early-onset epileptic encephalopathy JS Cho, SH Kim, HY Kim, T Chung, D Kim, S Jang, SB Lee, SK Yoo, ... Epilepsy Research 129, 118-124, 2017 | 29 | 2017 |
Genetic association of APOA5 and APOE with metabolic syndrome and their interaction with health-related behavior in Korean men KY Son, HY Son, J Chae, J Hwang, SS Jang, JM Yun, BL Cho, JH Park, ... Lipids in health and disease 14 (1), 1-9, 2015 | 28 | 2015 |
Genetic diagnosis of infantile‐onset epilepsy in the clinic: Application of whole‐exome sequencing following epilepsy gene panel testing SY Kim, SS Jang, H Kim, H Hwang, JE Choi, JH Chae, KJ Kim, BC Lim Clinical genetics 99 (3), 418-424, 2021 | 24 | 2021 |
Collagen VI‐related myopathy: Expanding the clinical and genetic spectrum SY Kim, WJ Kim, H Kim, SA Choi, JS Lee, A Cho, SS Jang, BC Lim, ... Muscle & Nerve 58 (3), 381-388, 2018 | 23 | 2018 |
Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis SY Kim, YK Shim, YJ Ko, S Park, SS Jang, BC Lim, KJ Kim, JH Chae Orphanet journal of rare diseases 15, 1-6, 2020 | 19 | 2020 |
Genomic characterization of clonal evolution during oropharyngeal carcinogenesis driven by human papillomavirus 16 J Chae, WS Park, MJ Kim, SS Jang, D Hong, J Ryu, CH Ryu, JH Kim, ... BMB reports 51 (11), 584, 2018 | 11 | 2018 |
Sequencing Cell-free Fetal DNA in Pregnant Women With GCK-MODY SH Kwak, CE Powe, SS Jang, MJ Callahan, SN Bernstein, SM Lee, ... The Journal of Clinical Endocrinology & Metabolism 106 (9), 2678-2689, 2021 | 10 | 2021 |
Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies SY Kim, SS Jang, JI Kim, H Kim, H Hwang, JE Choi, JH Chae, KJ Kim, ... Seizure 71, 222-228, 2019 | 9 | 2019 |
Whole genomic approach in mutation discovery of infantile spasms patients S Lee, S Jang, JI Kim, JH Chae, KJ Kim, BC Lim Frontiers in neurology 13, 944905, 2022 | 8 | 2022 |
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases S Park, SS Jang, S Lee, M Kim, H Sim, H Jeon, SE Hong, J Lee, J Lee, ... Frontiers in Genetics 13, 990015, 2022 | 7 | 2022 |
Importance of early diagnosis in LMNA‐related muscular dystrophy for cardiac surveillance SA Choi, A Cho, SY Kim, WJ Kim, YK Shim, JS Lee, SS Jang, BC Lim, ... Muscle & Nerve 60 (6), 668-672, 2019 | 7 | 2019 |
Development of a common platform for the noninvasive prenatal diagnosis of X‐linked diseases SS Jang, BC Lim, SK Yoo, JY Shin, JS Seo, D Hwang, KY Yoo, JH Chae, ... Prenatal Diagnosis 38 (11), 835-840, 2018 | 7 | 2018 |
The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder S Lee, SS Jang, S Park, JG Yoon, SY Kim, BC Lim, JH Chae Frontiers in Pediatrics 10, 960450, 2022 | 6 | 2022 |
A newly developed capture-based sequencing panel for genomic assay of lung cancer SW Im, J Chae, SS Jang, J Choi, J Yun, S Cha, NJ Kwon, YK Jeon, ... Genes & genomics 42, 751-759, 2020 | 5 | 2020 |