Successful weight reduction and maintenance by using a smartphone application in those with overweight and obesity SYR Sang Ouk Chin, Changwon Keum, Junghoon Woo, Jehwan Park, Hyung Jin Choi ... Scientific Reports 6, 34563, 2016 | 160 | 2016 |
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE GH Seo, T Kim, IH Choi, J Park, J Lee, S Kim, D Won, A Oh, Y Lee, J Choi, ... Clinical genetics 98 (6), 562-570, 2020 | 94 | 2020 |
Clinical and molecular spectra of BRAF-associated RASopathy Y Lee, Y Choi, GH Seo, GH Kim, IH Choi, C Keum, JM Ko, CK Cheon, ... Journal of Human Genetics 66 (4), 389-399, 2021 | 18 | 2021 |
Diverse genetic landscape of suspected retinitis pigmentosa in a large korean cohort YJ Kim, YN Kim, YH Yoon, EJ Seo, GH Seo, C Keum, BH Lee, JY Lee Genes 12 (5), 675, 2021 | 12 | 2021 |
Effects of climatic variables on weight loss: a global analysis M Ustulin, C Keum, J Woo, J Woo, SY Rhee Scientific Reports 7 (1), 1-7, 2017 | 12 | 2017 |
Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients YN Kim, JS Song, SH Oh, YJ Kim, YH Yoon, EJ Seo, CA Seol, SM Lee, ... Scientific Reports 10 (1), 19540, 2020 | 10 | 2020 |
Identification of novel 17\-estradiol (E2) target genes using cross-experiment gene expression datasets WC Yim, C Keum, S Kim, Y Cho, BM Lee, Y Kwon Toxicology and Environmental Health Sciences 2, 25-38, 2010 | 10 | 2010 |
Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature TY Kim, KM Jang, CW Keum, SH Oh, WY Chung Annals of Pediatric Endocrinology & Metabolism 25 (4), 272, 2020 | 9 | 2020 |
Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome HW Son, JE Lee, SH Oh, C Keum, WY Chung Annals of Pediatric Endocrinology & Metabolism 25 (2), 126, 2020 | 8 | 2020 |
Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome H Ahn, GH Seo, C Keum, SH Heo, T Kim, J Choi, MS Yum, BH Lee Brain and Development 42 (5), 414-417, 2020 | 8 | 2020 |
Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14 E Kang, T Kim, A Oh, MS Yum, C Keum, HW Yoo, BH Lee Journal of Human Genetics 64 (11), 1137-1140, 2019 | 8 | 2019 |
High diagnostic yield and clinical utility of WES for patients with undiagnosed genetic disorder by automating variant interpretation GH Seo, JY Park, S Kim, J Lee, A Oh, Y Lee, J Choi, T Kim, C Keum, ... BioRxiv 10, 628438, 2019 | 8 | 2019 |
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea Y Lee, Y Choi, GH Seo, GH Kim, C Keum, YM Kim, HS Do, J Choi, IH Choi, ... BMC medical genomics 14, 1-10, 2021 | 7 | 2021 |
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management J Jung, JH Lee, YS Park, GH Seo, C Keum, HG Kang, H Lee, SK Lee, ... BMC Medical Genomics 14 (1), 177, 2021 | 7 | 2021 |
The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation S Yoo, YA Kim, JY Yoon, GH Seo, C Keum, CK Cheon Brain and Development 43 (2), 325-330, 2021 | 7 | 2021 |
First Korean case of Coffin-Siris syndrome with a novel frameshift ARID1B mutation BL Lee, SH Oh, KR Jun, YJ Hur, JE Lee, C Keum, WY Chung Annals of Clinical & Laboratory Science 50 (1), 140-145, 2020 | 7 | 2020 |
Improving gene expression similarity measurement using pathway-based analytic dimension C Keum, JH Woo, WS Oh, SN Park, KT No BMC genomics 10, 1-6, 2009 | 7 | 2009 |
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature Y Choi, J Choi, H Do, S Hwang, GH Seo, IH Choi, C Keum, JH Choi, ... Molecular Genetics & Genomic Medicine 11 (4), e2127, 2023 | 6 | 2023 |
Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia H Ahn, GH Seo, A Oh, Y Lee, C Keum, SH Heo, T Kim, J Choi, GH Kim, ... Medicine 99 (51), e23864, 2020 | 6 | 2020 |
A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia HS Park, A Oh, CW Keum, J Lee, JK Lee, BR Son, KS Shin, YS Hahn European Journal of Medical Genetics 65 (1), 104387, 2022 | 5 | 2022 |