Changwon Keum

发表

Improving gene expression similarity measurement using pathway-based analytic dimension

K. No, Changwon Keum, J. Woo, 2009, BMC Genomics.

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

R. Desnick, M. Cho, Changwon Keum, 2020, Clinical genetics.

Identification of novel 17\-estradiol (E2) target genes using cross-experiment gene expression datasets

W. C. Yim, Byung-Moo Lee, Changwon Keum, 2010, Toxicology and Environmental Health Sciences.

Clinical and molecular spectra of BRAF-associated RASopathy

J. Ko, C. Cheon, H. Yoo, 2020, Journal of Human Genetics.

Local structural alignment and classification of TIM barrel domains

Jongsun Jung, Changwon Keum, ksbsb ibc, 2006 .

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

Changwon Keum, S. Oh, K. Jang, 2020, Annals of pediatric endocrinology & metabolism.

A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia.

Changwon Keum, K. Shin, J. Lee, 2021, European journal of medical genetics.

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

H. Yoo, Changwon Keum, Jeongmin Choi, 2021, BMC medical genomics.

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management

Heeyeon Cho, Changwon Keum, Hajeong Lee, 2021, BMC medical genomics.

GEFERENCE: Reference Database for Construing Personal Genome Expression

Ju Han Kim, Young Soo Song, Kyoung Tai No, 2009, BIOCOMP.

KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature

H. Yoo, Changwon Keum, Gu-Hwan Kim, 2022, Molecular genetics & genomic medicine.

High diagnostic yield and clinical utility of WES for patients with undiagnosed genetic disorder by automating variant interpretation

Changwon Keum, Jungsul Lee, Jeongmin Choi, 2019 .

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity

Changwon Keum, D. Oh, M. Park, 2021, Scientific Reports.

Pilot study of EVIDENCE: High diagnostic yield and clinical utility of whole exome sequencing using an automated interpretation system for patients with suspected genetic disorders

R. Desnick, M. Cho, Changwon Keum, 2019, bioRxiv.

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss

Changwon Keum, D. Oh, N. Kim, 2022, Scientific Reports.

Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia

Changwon Keum, Jeongmin Choi, Gu-Hwan Kim, 2020, Medicine.

Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome

Changwon Keum, Jeongmin Choi, B. Lee, 2020, Brain and Development.

Successful weight reduction and maintenance by using a smartphone application in those with overweight and obesity

Hyung Jin Choi, Changwon Keum, S. Rhee, 2016, Scientific Reports.

Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort

Changwon Keum, Y. Kim, You-Na Kim, 2021, Genes.

Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients

J. Song, Changwon Keum, Y. Kim, 2020, Scientific Reports.

Identification of the housekeeping genes using cross experiments via in silico analysis.

C. Jang, Byung-Moo Lee, Changwon Keum, 2010 .

Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome

Changwon Keum, Jeong Eun Lee, S. Oh, 2020, Annals of pediatric endocrinology & metabolism.

Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application

Heeyeon Cho, M. Cho, Changwon Keum, 2023, Clinical genetics.

The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation

C. Cheon, Changwon Keum, J. Yoon, 2020, Brain and Development.

Effects of climatic variables on weight loss: a global analysis

S. Rhee, J. Woo, Changwon Keum, 2017, Scientific Reports.

The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea

C. Cheon, Changwon Keum, J. Yoon, 2022, Annals of Pediatric Endocrinology & Metabolism.

Clinical application of prospective whole‐exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea

Changwon Keum, Ja Young Lee, Seung-Hwan Oh, 2023, Annals of human genetics.

Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14

H. Yoo, Changwon Keum, B. Lee, 2019, Journal of Human Genetics.