| Prevalence and detection of low-allele-fraction variants in clinical cancer samples HT Shin, YL Choi, JW Yun, NKD Kim, SY Kim, HJ Jeon, JY Nam, C Lee, ... Nature communications 8 (1), 1377, 2017 | 168 | 2017 |
| ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy KH Han, DY Oh, S Lee, C Lee, JH Han, MY Kim, HR Park, MK Park, ... Scientific reports 7 (1), 16504, 2017 | 51 | 2017 |
| Identification of a novel PML-RARG fusion in acute promyelocytic leukemia JS Ha, YR Do, CS Ki, C Lee, DH Kim, W Lee, NH Ryoo, DS Jeon Leukemia 31 (9), 1992-1995, 2017 | 44 | 2017 |
| Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans BJ Kim, AR Kim, C Lee, SY Kim, NKD Kim, MY Chang, J Rhee, MH Park, ... PLoS One 11 (10), e0165680, 2016 | 36 | 2016 |
| Genetic study in Korean pediatric patients with steroid-resistant nephrotic syndrome or focal segmental glomerulosclerosis E Park, C Lee, NKD Kim, YH Ahn, YS Park, JH Lee, SH Kim, MH Cho, ... Journal of clinical medicine 9 (6), 2013, 2020 | 33 | 2020 |
| Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss BJ Kim, AR Kim, JH Han, C Lee, DY Oh, BY Choi The journal of gene medicine 19 (4), e2950, 2017 | 32 | 2017 |
| Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease J Youn, C Lee, E Oh, J Park, JS Kim, HT Kim, JW Cho, WY Park, W Jang, ... Neurobiology of aging 75, 224. e9-224. e15, 2019 | 30 | 2019 |
| Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness MY Chang, C Lee, JH Han, MY Kim, HR Park, N Kim, WY Park, DY Oh, ... BMC medical genetics 19, 1-10, 2018 | 30 | 2018 |
| Genomic alterations in biliary tract cancer using targeted sequencing KH Yoo, NKD Kim, WI Kwon, C Lee, SY Kim, J Jang, J Ahn, M Kang, ... Translational Oncology 9 (3), 173-178, 2016 | 29 | 2016 |
| Identification and clinical implications of novel MYO15A mutations in a non-consanguineous Korean family by targeted exome sequencing MY Chang, AR Kim, NKD Kim, C Lee, KY Lee, WS Jeon, JW Koo, SH Oh, ... Molecules and cells 38 (9), 781-788, 2015 | 28 | 2015 |
| Unraveling of enigmatic hearing-impaired GJB2 single heterozygotes by massive parallel sequencing: DFNB1 or not? SY Kim, AR Kim, NKD Kim, C Lee, MY Kim, EH Jeon, WY Park, BY Choi Medicine 95 (14), e3029, 2016 | 27 | 2016 |
| Targeted exome sequencing provided comprehensive genetic diagnosis of congenital anomalies of the kidney and urinary tract YH Ahn, C Lee, NKD Kim, E Park, HG Kang, IS Ha, WY Park, HI Cheong Journal of Clinical Medicine 9 (3), 751, 2020 | 26 | 2020 |
| Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing JS Bae, NKD Kim, C Lee, SC Kim, HR Lee, HR Song, KB Park, HW Kim, ... Genetics in Medicine 18 (6), 563-569, 2016 | 25 | 2016 |
| Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review JH Ahn, AR Kim, C Lee, NKD Kim, NS Kim, WY Park, M Kim, J Youn, ... The Cerebellum 18, 659-664, 2019 | 22 | 2019 |
| A method to evaluate the quality of clinical gene-panel sequencing data for single-nucleotide variant detection C Lee, JS Bae, GH Ryu, NKD Kim, D Park, J Chung, S Kyung, JG Joung, ... The Journal of Molecular Diagnostics 19 (5), 651-658, 2017 | 22 | 2017 |
| Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics BJ Kim, JH Jang, JH Han, HR Park, DY Oh, S Lee, MY Kim, AR Kim, ... Journal of translational medicine 16, 1-13, 2018 | 21 | 2018 |
| Determining the best candidates for next‐generation sequencing‐based gene panel for evaluation of early‐onset epilepsy J Lee, C Lee, CS Ki, J Lee Molecular genetics & genomic medicine 8 (9), e1376, 2020 | 19 | 2020 |
| 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 |
| Performance evaluation method for read mapping tool in clinical panel sequencing H Lee, KW Lee, T Lee, D Park, J Chung, C Lee, WY Park, DS Son Genes & genomics 40, 189-197, 2018 | 18 | 2018 |
| Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications M Kim, AR Kim, JS Kim, J Park, J Youn, JH Ahn, JK Mun, C Lee, NS Kim, ... Parkinsonism & Related Disorders 80, 58-64, 2020 | 17 | 2020 |
