Jong-Hee Chae (Jong Hee Chae)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 24

Top Topics

Interstitial Lung Disease

Systemic Sclerosis

Top Venues

European journal of human genetics : EJHG

American journal of medical genetics. Part A

Journal of Korean medical science

Annals of laboratory medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Jihoon G Yoon, Seoungbok Lee, Jae So Cho, Narae Kim, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Jangsup Moon, Jong-Hee Chae
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing. European journal of human genetics : EJHG 32 (5) (2024)
Hye Jin Kim, Minhye Kim, Seoyun Jang, Jae So Cho, Soo Yeon Kim, Anna Cho, Hunmin Kim, Byung Chan Lim, Jong-Hee Chae, Jieun Choi, Ki Joong Kim, WooJoong Kim
SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights. American journal of medical genetics. Part A 194 (8) (2024)
Jihoon G Yoon, Seoungbok Lee, Jae So Cho, Narae Kim, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Jangsup Moon, Jong-Hee Chae
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing. European journal of human genetics : EJHG 32 (5) (2024)
Hae Ryung Kim, Seon Hee Lim, Ji Soo Park, Dong In Suh, Seoungbok Lee, Soo Yeon Kim, Jong-Hee Chae, Seong Heon Kim
Unraveling the diagnostic odyssey: stimulator of interferon gene-associated vasculopathy with onset in infancy in a 30-year-old female. Journal of rheumatic diseases 31 (3) (2024)
Jihoon G Yoon, Seoungbok Lee, Jae So Cho, Narae Kim, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Jangsup Moon, Jong-Hee Chae
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing. European journal of human genetics : EJHG (2024)
Hye Jin Kim, Minhye Kim, Seoyun Jang, Jae So Cho, Soo Yeon Kim, Anna Cho, Hunmin Kim, Byung Chan Lim, Jong-Hee Chae, Jieun Choi, Ki Joong Kim, WooJoong Kim
SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights. American journal of medical genetics. Part A 194 (8) (2024)
Hae Ryung Kim, Seon Hee Lim, Ji Soo Park, Dong In Suh, Seoungbok Lee, Soo Yeon Kim, Jong-Hee Chae, Seong Heon Kim
Unraveling the diagnostic odyssey: stimulator of interferon gene-associated vasculopathy with onset in infancy in a 30-year-old female. Journal of rheumatic diseases 31 (3) (2024)
Hye Jin Kim, Minhye Kim, Seoyun Jang, Jae So Cho, Soo Yeon Kim, Anna Cho, Hunmin Kim, Byung Chan Lim, Jong-Hee Chae, Jieun Choi, Ki Joong Kim, WooJoong Kim
SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights. American journal of medical genetics. Part A (2024)
Jihoon G Yoon, Seoungbok Lee, Jae So Cho, Narae Kim, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Jangsup Moon, Jong-Hee Chae
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing. European journal of human genetics : EJHG (2024)
Hye Jin Kim, Minhye Kim, Seoyun Jang, Jae So Cho, Soo Yeon Kim, Anna Cho, Hunmin Kim, Byung Chan Lim, Jong-Hee Chae, Jieun Choi, Ki Joong Kim, WooJoong Kim
SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights. American journal of medical genetics. Part A 194 (8) (2024)
Jihoon G Yoon, Seoungbok Lee, Jae So Cho, Narae Kim, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Jangsup Moon, Jong-Hee Chae
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing. European journal of human genetics : EJHG 32 (5) (2024)
Jihoon G Yoon, Seoungbok Lee, Jae So Cho, Narae Kim, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Jangsup Moon, Jong-Hee Chae
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing. European journal of human genetics : EJHG 32 (5) (2024)
Soo Yeon Kim, Seungbok Lee, Hyewon Woo, Jiyeon Han, Young Jun Ko, Youngkyu Shim, Soojin Park, Se Song Jang, Byung Chan Lim, Jung Min Ko, Ki Joong Kim, Anna Cho, Hunmin Kim, Hee Hwang, Ji Eun Choi, Man Jin Kim, Jangsup Moon, Moon-Woo Seong, Sung Sup Park, Sun Ah Choi, Ji Eun Lee, Young Se Kwon, Young Bae Sohn, Jon Soo Kim, Won Seop Kim, Yun Jeong Lee, Soonhak Kwon, Young Ok Kim, Hoon Kook, Yong Gon Cho, Chong Kun Cheon, Ki-Soo Kang, Mi-Ryoung Song, Young-Joon Kim, Hyuk-Jin Cha, Hee-Jung Choi, Yun Kee, Sung-Gyoo Park, Seung Tae Baek, Murim Choi, Dong-Sung Ryu, Jong-Hee Chae
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure. Orphanet journal of rare diseases 17 (1) (2022)
Man Jin Kim, Soo Yeon Kim, Jin Sook Lee, Sanggoo Kang, Lae-Jeong Park, Wooyong Choi, Ju Yeol Jung, Taehyung Kim, Woonhyoung Lee, Jung Min Ko, Moon-Woo Seong, Jong-Hee Chae
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases. Annals of laboratory medicine 43 (3) (2022)
Man Jin Kim, Soo Yeon Kim, Jin Sook Lee, Sanggoo Kang, Lae-Jeong Park, Wooyong Choi, Ju Yeol Jung, Taehyung Kim, Woonhyoung Lee, Jung Min Ko, Moon-Woo Seong, Jong-Hee Chae
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases. Annals of laboratory medicine 43 (3) (2022)
Man Jin Kim, Soo Yeon Kim, Jin Sook Lee, Sanggoo Kang, Lae-Jeong Park, Wooyong Choi, Ju Yeol Jung, Taehyung Kim, Woonhyoung Lee, Jung Min Ko, Moon-Woo Seong, Jong-Hee Chae
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases. Annals of laboratory medicine 43 (3) (2022)
Soo Yeon Kim, Saebom Ko, Hyunook Kang, Man Jin Kim, Jangsup Moon, Byung Chan Lim, Ki Joong Kim, Murim Choi, Hee-Jung Choi, Jong-Hee Chae
Fatal systemic disorder caused by biallelic variants in FARSA. Orphanet journal of rare diseases 17 (1) (2022)
Boram Kim, Yongsook Park, Sung Im Cho, Man Jin Kim, Jong-Hee Chae, Ji Yeon Kim, Moon-Woo Seong, Woonhyoung Lee
Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome. Annals of laboratory medicine 42 (1) (2021)
Soo Yeon Kim, YoungKyu Shim, Young Joon Ko, Soojin Park, Se Song Jang, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae
Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis. Orphanet journal of rare diseases 15 (1) (2020)
Hyuna Kim, Jin Sook Lee, Youngha Lee, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Murim Choi, Jong-Hee Chae
Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features. Yonsei medical journal 60 (12) (2020)
Mi Young Kim, Ji Hyun Kim, Myung Hyun Cho, Young Hun Choi, Seong Heon Kim, Young Jae Im, Kwanjin Park, Hee Gyung Kang, Jong-Hee Chae, Hae Il Cheong
Erratum: Correction of Error in Result: Urological Problems in Patients with Menkes Disease. Journal of Korean medical science 34 (20) (2019)
Mi Young Kim, Ji Hyun Kim, Myung Hyun Cho, Young Hun Choi, Seong Heon Kim, Young Jae Im, Kwanjin Park, Hee Gyung Kang, Jong-Hee Chae, Hae Il Cheong
Urological Problems in Patients with Menkes Disease. Journal of Korean medical science 34 (1) (2018)
Ji Yeon Han, Jung Won Choi, Kyu Chang Wang, Ji Hoon Phi, Ji Yeoun Lee, Jong-Hee Chae, Hye-Kyung Park, Jung-Eun Cheon, Seung Ki Kim
Coexistence of Radiation-Induced Meningioma and Moyamoya Syndrome 10 Years after Irradiation against Medulloblastoma: a Case Report. Journal of Korean medical science 32 (11) (2018)
Ji Soo Park, Yun Jung Choi, Young Tae Kim, Samina Park, Jong-Hee Chae, June Dong Park, Yeon Jin Cho, Woo-Sun Kim, Moon-Woo Seong, Hye-Kyung Park, Dohee Kwon, Doo Hyun Chung, Dong In Suh
Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation of SFTPC Successfully Treated with Lung Transplantation. Journal of Korean medical science 33 (22) (2018)