Changwon Keum

Seoul, Republic of Korea

Last Updated: 09/26/2026

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Found 24 publications

Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers.

Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers.

Journal: Research square

Published: July 16, 2024

Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers.

Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers.

Journal: Human genetics

Published: June 15, 2024

Critical assessment of missense variant effect predictors on disease-relevant variant data.

Critical assessment of missense variant effect predictors on disease-relevant variant data.

Journal: Human genetics

Published: June 06, 2024

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

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

Journal: Clinical genetics

Published: January 13, 2023

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

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

Journal: Annals of human genetics

Published: September 26, 2022

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

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

Journal: Molecular genetics & genomic medicine

Published: June 23, 2022

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

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

Journal: Scientific reports

Published: August 04, 2021

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

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

Journal: Annals of pediatric endocrinology & metabolism

Published: May 22, 2021

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

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

Journal: BMC medical genomics

Published: May 12, 2021

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

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

Journal: Scientific reports

Published: May 04, 2021

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

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

Journal: Genes

Published: March 21, 2021

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

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

Journal: BMC medical genomics

Published: December 24, 2020

Showing 1-12 of 24

Last Updated: 09/26/2026