Works by Keum, Changwon

Results: 18

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

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 4, p. 1, doi. 10.1002/mgg3.2127

By:

Choi, Yunha;
Choi, Jungmin;
Do, Hyosang;
Hwang, Soojin;
Seo, Go Hun;
Choi, In Hee;
Keum, Changwon;
Choi, Jin‐Ho;
Kang, Minji;
Kim, Gu‐Hwan;
Yoo, Han‐Wook;
Lee, Beom Hee

Publication type:

Article

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

Published in:

Annals of Human Genetics, 2024, v. 88, n. 2, p. 101, doi. 10.1111/ahg.12530

By:

Lee, Ja Young;
Oh, Seung‐Hwan;
Keum, Changwon;
Lee, Bo Lyun;
Chung, Woo Yeong

Publication type:

Article

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

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-75902-z

By:

Kim, You Na;
Song, Joon Seon;
Oh, Seak Hee;
Kim, Yoon Jeon;
Yoon, Young Hee;
Seo, Eul-Ju;
Seol, Chang Ahn;
Lee, Sae-Mi;
Choi, Jong-Moon;
Seo, Go Hun;
Keum, Changwon;
Lee, Beom Hee;
Lee, Joo Yong

Publication type:

Article

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

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01104-9

By:

Lee, Yena;
Choi, Yunha;
Seo, Go Hun;
Kim, Gu-Hwan;
Keum, Changwon;
Kim, Yoo-Mi;
Do, Hyo-Sang;
Choi, Jeongmin;
Choi, In Hee;
Yoo, Han-Wook;
Lee, Beom Hee

Publication type:

Article

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

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01026-6

By:

Jung, Jiwon;
Lee, Joo Hoon;
Park, Young Seo;
Seo, Go Hun;
Keum, Changwon;
Kang, Hee Gyung;
Lee, Hajeong;
Lee, Sang Koo;
Lee, Sang Taek;
Cho, Heeyeon;
Lee, Beom Hee

Publication type:

Article

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

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 281, doi. 10.1007/s00439-025-02732-2

By:

Rastogi, Ruchir;
Chung, Ryan;
Li, Sindy;
Li, Chang;
Lee, Kyoungyeul;
Woo, Junwoo;
Kim, Dong-Wook;
Keum, Changwon;
Babbi, Giulia;
Martelli, Pier Luigi;
Savojardo, Castrense;
Casadio, Rita;
Chennen, Kirsley;
Weber, Thomas;
Poch, Olivier;
Ancien, François;
Cia, Gabriel;
Pucci, Fabrizio;
Raimondi, Daniele;
Vranken, Wim

Publication type:

Article

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

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 127, doi. 10.1007/s00439-025-02726-0

By:

Chen, Yile;
Lee, Kyoungyeul;
Woo, Junwoo;
Kim, Dong-wook;
Keum, Changwon;
Babbi, Giulia;
Casadio, Rita;
Martelli, Pier Luigi;
Savojardo, Castrense;
Manfredi, Matteo;
Shen, Yang;
Sun, Yuanfei;
Katsonis, Panagiotis;
Lichtarge, Olivier;
Pejaver, Vikas;
Seward, David J.;
Kamandula, Akash;
Bakolitsa, Constantina;
Brenner, Steven E.;
Radivojac, Predrag

Publication type:

Article

A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features.

Published in:

Annals of Clinical & Laboratory Science, 2020, v. 50, n. 5, p. 687

By:

Seung Hwan Oh;
Changwon Keum;
Minyoung Her;
Woo Yeong Chung;
Yeong Hoon Kim;
Taehee Kim

Publication type:

Article

First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation.

Published in:

Annals of Clinical & Laboratory Science, 2020, v. 50, n. 1, p. 140

By:

Bo Lyun Lee;
Seung Hwan Oh;
Kyung Ran Jun;
Yun Jung Hur;
Jeong Eun Lee;
Changwon Keum;
Woo Yeong Chung

Publication type:

Article

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

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 298, doi. 10.1111/cge.14382

By:

Jung, Jiwon;
Lee, Joo Hoon;
Seo, Go Hun;
Keum, Changwon;
Kang, Hee Gyung;
Cho, Heeyeon;
Lee, Hajeong;
Park, Su‐Kil;
Baek, Chung Hee;
Han, Ro;
Lee, Sang Taek;
Cho, Min Hyun;
Yim, Hyung Eun;
Koo, Ja wook;
Lee, Beom Hee

Publication type:

Article

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

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 562, doi. 10.1111/cge.13848

By:

Seo, Go Hun;
Kim, Taeho;
Choi, In Hee;
Park, Jung‐young;
Lee, Jungsul;
Kim, Sehwan;
Won, Dhong‐gun;
Oh, Arum;
Lee, Yena;
Choi, Jeongmin;
Lee, Hajeong;
Kang, Hee Gyung;
Cho, Hee Yeon;
Cho, Min Hyun;
Kim, Yoon Jeon;
Yoon, Young Hee;
Eun, Baik‐Lin;
Desnick, Robert J.;
Keum, Changwon;
Lee, Beom Hee

Publication type:

Article

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

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, n. 1, p. 54, doi. 10.6065/apem.2142116.058

By:

Sukdong Yoo;
Ju Young Yoon;
Changwon Keum;
Chong Kun Cheon

Publication type:

Article

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

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2020, v. 25, n. 2, p. 126, doi. 10.6065/apem.1938144.072

By:

Hyun Woo Son;
Jeong Eun Lee;
Seung Hwan Oh;
Changwon Keum;
Woo Yeong Chung

Publication type:

Article

Effects of climatic variables on weight loss: a global analysis.

Published in:

Scientific Reports, 2017, p. 40708, doi. 10.1038/srep40708

By:

Ustulin, Morena;
Keum, Changwon;
Woo, Junghoon;
Woo, Jeong-taek;
Rhee, Sang Youl

Publication type:

Article

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

Published in:

Scientific Reports, 2016, p. 34563, doi. 10.1038/srep34563

By:

Chin, Sang Ouk;
Keum, Changwon;
Woo, Junghoon;
Park, Jehwan;
Choi, Hyung Jin;
Woo, Jeong-taek;
Rhee, Sang Youl

Publication type:

Article

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

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-16661-x

By:

Kim, So Young;
Kim, Bong Jik;
Oh, Doo Yi;
Han, Jin Hee;
Yi, Nayoung;
Kim, Namju Justin;
Park, Moo Kyun;
Keum, Changwon;
Seo, Go Hun;
Choi, Byung Yoon

Publication type:

Article

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

Published in:

Genes, 2021, v. 12, n. 5, p. 675, doi. 10.3390/genes12050675

By:

Kim, Yoon-Jeon;
Kim, You-Na;
Yoon, Young-Hee;
Seo, Eul-Ju;
Seo, Go-Hun;
Keum, Changwon;
Lee, Beom-Hee;
Lee, Joo-Yong;
Woo, Se Joon

Publication type:

Article

Improving gene expression similarity measurement using pathway-based analytic dimension.

Published in:

BMC Genomics, 2009, v. 10, p. 1, doi. 10.1186/1471-2164-10-S3-S15

By:

Changwon Keum;
Jung Hoon Woo;
Won Seok Oh;
Sue-Nie Park;
Kyoung Tai No

Publication type:

Article