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Changwon Keum
Changwon Keum
3billion inc.
Verified email at 3billion.io - Homepage
Title
Cited by
Cited by
Year
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
1602016
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
942020
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
182021
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
122021
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
122017
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
102020
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
102010
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
92020
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
82020
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
82020
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
82019
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
82019
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
72021
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
72021
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
72021
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
72020
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
72009
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
62023
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
62020
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
52022
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