Works by Cheon, Chong-Kun

Results: 25

Allogenic mitochondria transfer improves cardiac function in iPS-cell-differentiated cardiomyocytes of a patient with Barth syndrome.

Published in:

Experimental & Molecular Medicine EMM, 2025, v. 57, n. 6, p. 1260, doi. 10.1038/s12276-025-01472-7

By:

Kim, Ye Seul;
Yoo, Sukdong;
Jung, Yoon Ji;
Yoon, Jung Won;
Kwon, Yong Seong;
Lee, Nayeon;
Cheon, Chong Kun;
Kim, Jae Ho

Publication type:

Article

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Published in:

Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00464-x

By:

Seo, Go Hun;
Lee, Hane;
Lee, Jungsul;
Han, Heonjong;
Cho, You Kyung;
Kim, Minji;
Choi, Yunha;
Choi, Jeongmin;
Choi, In Hee;
Rhie, Seonkyeong;
Chae, Kyu Young;
Kim, Yoo-Mi;
Cheon, Chong Kun;
Kim, Su Jin;
Lee, Jieun;
Kang, Eungu;
Byeon, Jung Hye;
Yu, Hee Joon;
Shin, Young-Lim;
Oh, Arum

Publication type:

Article

Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-88362-0

By:

Lee, Hyesook;
Han, Jung-Hwa;
Jeong, Roo Gam;
Kang, Yun Jeong;
Choi, Byung Hyun;
Kim, Seo Rin;
Cheon, Chong Kun;
Hur, Jin;
Lee, Soo Yong

Publication type:

Article

NANS‐CDG: Expanding clinical insights with a novel patient with novel variants.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63721

By:

Yoo, Sukdong;
Cheon, Chong Kun

Publication type:

Article

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.

Published in:

2020

By:

Kim, Yoo-Mi;
Choi, Jin-Ho;
Kim, Gu-Hwan;
Sohn, Young Bae;
Ko, Jung Min;
Lee, Beom Hee;
Cheon, Chong Kun;
Lim, Han Hyuk;
Heo, Sun-Hee;
Yoo, Han-Wook

Publication type:

journal article

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54

By:

Choi, Jin-Ho;
Lee, Beom Hee;
Kim, Ja Hye;
Kim, Gu-Hwan;
Kim, Yoo-Mi;
Cho, Jahyang;
Cheon, Chong-Kun;
Ko, Jung Min;
Lee, Jung Hyun;
Yoo, Han-Wook

Publication type:

Article

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 321, doi. 10.1038/jhg.2014.25

By:

Cheon, Chong Kun;
Sohn, Young Bae;
Ko, Jung Min;
Lee, Yeoun Joo;
Song, Ji Sun;
Moon, Jea Woo;
Yang, Bo Kyoung;
Ha, Il Soo;
Bae, Eun Jung;
Jin, Hyun-Seok;
Jeong, Seon-Yong

Publication type:

Article

Low prevalence of classical galactosemia in Korean population.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 94, doi. 10.1038/jhg.2010.152

By:

Lee, Beom Hee;
Cheon, Chong Kun;
Kim, Jae-Min;
Kang, Minji;
Kim, Joo Hyun;
Yang, Song Hyun;
Kim, Gu-Hwan;
Choi, Jin-ho;
Yoo, Han-Wook

Publication type:

Article

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 594, doi. 10.1111/cge.13038

By:

Kim, Yoo-Mi;
Lee, Yun-Jin;
Park, Jae Hong;
Lee, Hyoung-Doo;
Cheon, Chong Kun;
Kim, Su-Young;
Hwang, Jae-Yeon;
Jang, Ja-Hyun;
Yoo, Han-Wook

Publication type:

Article

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.

Published in:

Clinical Endocrinology, 2015, v. 83, n. 6, p. 790, doi. 10.1111/cen.12944

By:

Kim, Ja Hye;
Shin, Young‐Lim;
Yang, Seung;
Cheon, Chong Kun;
Cho, Ja Hyang;
Lee, Beom Hee;
Kim, Gu‐Hwan;
Lee, Jin Ok;
Seo, Eul Joo;
Choi, Jin‐Ho;
Yoo, Han‐Wook

Publication type:

Article

Clinical Characterization and Analysis of the SRD5A2 Gene in Six Korean Patients with 5α-Reductase Type 2 Deficiency.

Published in:

Hormone Research in Paediatrics, 2010, v. 73, n. 1, p. 41, doi. 10.1159/000271915

By:

Ko, Jung Min;
Cheon, Chong-Kun;
Kim, Gu-Hwan;
Kim, Sung Hoon;
Kim, Kun Suk;
Yoo, Han-Wook

Publication type:

Article

Functional Characterization of Gomisin N in High-Fat-Induced Drosophila Obesity Models.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 19, p. 7209, doi. 10.3390/ijms21197209

By:

Lee, Joo Young;
Lee, Ji Hye;
Cheon, Chong Kun

Publication type:

Article

A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00491-7

By:

Shin, Unbeom;
Choi, Yeonsong;
Ko, Hwa Soo;
Myung, Kyungjae;
Lee, Semin;
Cheon, Chong Kun;
Lee, Yoonsung

Publication type:

Article

Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 2, p. 101, doi. 10.1080/13816810.2020.1861308

By:

Cheon, Chong Kun;
Choi, Hee Young;
Park, Su Hwan;
Jung, Jae Ho;
Kim, Su Jin

Publication type:

Article

Comparison of growth hormone therapy response according to the presence of growth hormone deficiency in children born small for gestational age with short stature in Korea: a retrospective cohort study.

Published in:

BMC Pediatrics, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12887-024-05339-0

By:

Jo, Ha Young;
Jang, Hyun Ji;
Cheon, Chong Kun;
Yoon, Ju Young;
Yoo, Sukdong;
Lee, Jung Hyun;
Lee, Jeong Eun;
Kim, Ye Jin;
Kim, Sejin;
Kim, Hyun-Ji;
Choi, Im Jeong;
Kwak, Min Jung

Publication type:

Article

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.

Published in:

2009

By:

Jung Min Ko;
Chong-Kun Cheon;
Gu-Hwan Kim;
Han-Wook Yoo;
Ko, Jung Min;
Cheon, Chong-Kun;
Kim, Gu-Hwan;
Yoo, Han-Wook

Publication type:

journal article

Ease of Use, Preference, and Safety of the Recombinant Human Growth Hormone Disposable Pen Compared with the Reusable Device: A Multicenter, Single-Arm, Open-Label, Switch-Over, Prospective, Phase IV Trial.

Published in:

Patient Preference & Adherence, 2019, v. 13, p. 2195, doi. 10.2147/PPA.S229536

By:

Lee, Ji-Eun;
Kim, Se Young;
Yoo, Jae-Ho;
Hwang, Il Tae;
Lim, Jung Sub;
Yi, Kyung Hee;
Rhie, Young-Jun;
Lee, Gyung Min;
Nam, Hyo-Kyoung;
Chae, Hyun Wook;
Kim, Eun Young;
Cheon, Chong Kun;
Lee, Jieun;
Shim, Young Suk;
Lee, YuJin;
Hwang, Jin Soon

Publication type:

Article

Genotype and clinical outcomes in children with congenital adrenal hyperplasia.

Published in:

Pediatrics International, 2021, v. 63, n. 6, p. 658, doi. 10.1111/ped.14478

By:

Yoon, Ju Young;
Cheon, Chong Kun

Publication type:

Article

Vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in a Korean population.

Published in:

Pediatrics International, 2015, v. 57, n. 5, p. 870, doi. 10.1111/ped.12634

By:

Cheon, Chong‐Kun;
Nam, Hyo‐Kyoung;
Lee, Kee‐Hyoung;
Kim, Su Yung;
Song, Ji Sun;
Kim, Choongrak

Publication type:

Article

A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66750-y

By:

Lee, Kyu-Sun;
Choi, Miri;
Kwon, Dae-Woo;
Kim, Doyoun;
Choi, Jong-Moon;
Kim, Ae-Kyeong;
Ham, Youngwook;
Han, Sang-Bae;
Cho, Sungchan;
Cheon, Chong Kun

Publication type:

Article

Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease.

Published in:

Clinical & Translational Medicine, 2022, v. 12, n. 5, p. 1, doi. 10.1002/ctm2.862

By:

Kim, Eun Na;
Do, Hyo‐Sang;
Jeong, Hwangkyo;
Kim, Taeho;
Heo, Sun Hee;
Kim, Yoo‐Mi;
Cheon, Chong Kun;
Lee, Yena;
Choi, Yunha;
Choi, In Hee;
Choi, Jeongmin;
Yoo, Han‐Wook;
Kim, Chong Jai;
Zimran, Ari;
Kim, Kyunggon;
Lee, Beom Hee

Publication type:

Article

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.

Published in:

Molecular Medicine, 2016, v. 22, n. 1, p. 147, doi. 10.2119/molmed.2015.00254

By:

Kim, Yoo-Mi;
Kim, Ja Hye;
Choi, Jin-Ho;
Kim, Gu-Hwan;
Kim, Jae-Min;
Kang, Minji;
Choi, In-Hee;
Cheon, Chong Kun;
Sohn, Young Bae;
Maccarana, Marco;
Yoo, Han-Wook;
Lee, Beom Hee

Publication type:

Article

Prader-Willi syndrome gene expression profiling of obese and non-obese patients reveals transcriptional changes in CLEC4D and ANXA3.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2025, v. 38, n. 5, p. 514, doi. 10.1515/jpem-2024-0408

By:

Yoon, Ju Young;
Shin, Choong Ho;
Choi, Murim;
Ko, Jung Min;
Lee, Young Ah;
Shim, Kye Shik;
Lee, Jun;
Yoo, Suk Dong;
Kim, Minji;
Yu, Yeuni;
Lee, Joo Young;
Kim, Yun Hak;
Cheon, Chong Kun

Publication type:

Article

Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 12, p. 1539, doi. 10.1515/jpem-2020-0336

By:

Cheon, Chong Kun;
Lee, Yeoun Joo;
Yoo, Sukdong;
Lee, Jung Hee;
Lee, Jeong Eun;
Kim, Hyun Ji;
Choi, Im Jeong;
Choi, Yeonsong;
Lee, Semin;
Yoon, Ju Young

Publication type:

Article

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.

Published in:

2021

By:

Kamil, Gilyazetdinov;
Yoon, Ju Young;
Yoo, Sukdong;
Cheon, Chong Kun

Publication type:

journal article