| Tofacitinib relieves symptoms of stimulator of interferon genes (STING)–associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173 J Seo, JA Kang, DI Suh, EB Park, CR Lee, SA Choi, SY Kim, Y Kim, ... Journal of Allergy and Clinical Immunology 139 (4), 1396-1399. e12, 2017 | 83 | 2017 |
| Recurrent de novo mutations disturbing the GTP/GDP binding pocket of RAB11B cause intellectual disability and a distinctive brain phenotype IJC Lamers, MRF Reijnders, H Venselaar, A Kraus, S Jansen, ... The American Journal of Human Genetics 101 (5), 824-832, 2017 | 37 | 2017 |
| Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations: Variable Severity in Psychomotor Development and Musculoskeletal Manifestation J Min Ko, JS Cho, Y Yoo, J Seo, M Choi, JH Chae, HR Lee, TJ Cho Journal of child neurology 32 (2), 237-242, 2017 | 23 | 2017 |
| Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations J Seo, IH Choi, JS Lee, Y Yoo, NKD Kim, M Choi, JM Ko, YB Shin Journal of human genetics 60 (4), 213-215, 2015 | 23 | 2015 |
| Hypomorphic mutations in TONSL cause SPONASTRIME dysplasia HR Chang, SY Cho, JH Lee, E Lee, J Seo, HR Lee, DP Cavalcanti, ... The American Journal of Human Genetics 104 (3), 439-453, 2019 | 18 | 2019 |
| Uncovering the dosage-dependent roles of Arid1a in gastric tumorigenesis for combinatorial drug therapy AKH Loe, R Francis, J Seo, L Du, Y Wang, JE Kim, SW Hakim, JE Kim, ... Journal of Experimental Medicine 218 (6), 2021 | 17 | 2021 |
| Genetic associations of in vivo pathology influence Alzheimer’s disease susceptibility J Seo, MS Byun, D Yi, JH Lee, SY Jeon, SA Shin, YK Kim, KM Kang, ... Alzheimer's research & therapy 12 (1), 1-10, 2020 | 16 | 2020 |
| SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation J Min Ko, S Jung, J Seo, C Ho Shin, H Il Cheong, M Choi, OH Kim, TJ Cho Journal of human genetics 61 (6), 561-564, 2016 | 13 | 2016 |
| Analytical and Clinical Validation of Cell-Free Circulating Tumor DNA Assay for the Estimation of Tumor Mutational Burden KS Lee, J Seo, CK Lee, S Shin, Z Choi, S Min, JH Yang, WS Kwon, W Yun, ... Clinical Chemistry 68 (12), 1519-1528, 2022 | 10 | 2022 |
| Biallelic mutations in ABCB1 display recurrent reversible encephalopathy J Seo, CR Lee, JC Paeng, HW Kwon, D Lee, SC Kim, J Han, JL Ku, ... Annals of clinical and translational neurology 7 (8), 1443-1449, 2020 | 8 | 2020 |
| Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy JS Lee, J Seo, A Cho, BC Lim, M Choi, JW Kim, OH Kim, TJ Cho, JH Chae Brain and Development 39 (9), 799-803, 2017 | 7 | 2017 |
| Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample Y Shim, J Lee, J Seo, CK Park, S Shin, H Han, ST Lee, JR Choi, ... Cancer Cell International 22 (1), 306, 2022 | 6 | 2022 |
| Applications of molecular barcode sequencing for the detection of low‐frequency variants in circulating tumour DNA from hepatocellular carcinoma HW Lee, E Kim, KJ Cho, HJ Park, J Seo, H Lee, E Baek, JR Choi, KH Han, ... Liver International 42 (10), 2317-2326, 2022 | 5 | 2022 |
| Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population Y Lee, S Park, JS Lee, SY Kim, J Cho, Y Yoo, S Lee, T Yoo, M Lee, J Seo, ... Scientific Reports 10 (1), 1413, 2020 | 5 | 2020 |
| Investigation of PARP Inhibitor Resistance Based on Serially Collected Circulating Tumor DNA in Patients With BRCA-Mutated Ovarian Cancer YN Kim, Y Shim, J Seo, Z Choi, YJ Lee, S Shin, SW Kim, S Kim, JR Choi, ... Clinical Cancer Research, OF1-OF10, 2023 | 4 | 2023 |
| Neuropathy, ataxia, retinitis pigmentosa-like phenotype associated with a mitochondrial G8363A mutation in a family SY Kim, JY Han, HA Kim, BC Lim, JE Seo, M Choi, KJ Kim, IG Lee, ... Annals of Clinical & Laboratory Science 48 (4), 546-548, 2018 | 4 | 2018 |
| The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective J Seo, S Shin, S Kim, SJ Kim, M Lee, K Song, J Suh, ST Lee, YS Lee, ... International Journal of Molecular Sciences 24 (4), 3297, 2023 | 3 | 2023 |
| Development and validation of sensitive BCR:: ABL1 fusion gene quantitation using next-generation sequencing H Lee, J Seo, S Shin, ST Lee, JR Choi Cancer Cell International 23 (1), 1-7, 2023 | | 2023 |
| Investigation of PARP inhibitor resistance through the analysis of serially collected circulating tumor DNA (ctDNA) in ovarian cancer patients (027) YN Kim, Y Shim, JY Lee, ST Lee, J Seo, YJ Lee, S Shin, SW Kim, JR Choi, ... Gynecologic Oncology 166, S20, 2022 | | 2022 |
| Comprehensive genetic analysis by whole exome sequencing in 352 Korean pediatric patients with unknown neurodevelopmental disorders Y Lee, JS Lee, SY Kim, J Cho, Y Yoo, S Lee, T Yoo, M Lee, J Seo, J Lee, ... bioRxiv, 472803, 2018 | | 2018 |
