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J

Jong‐Hee Chae

seoul national university college of medicine and seoul national university children's hospital

46H-index
396Paper Count
7.2KCitation Count
Published Papers 114
Publication Date
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Systemic single-cell analysis of GPP reveals treatment-responsive and persistent immune signatures
errClinical and Translational Medicine
IF6.8
err2026-08-04
err0
errOAAI
errSoyoung Jeong; Seungbok Lee; Christine Suh-Yun Joh; James G. Krueger; Hyun Je Kim; Seong Jin Jo; Jong-Hee Chae
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errSave
Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families
errnpj Genomic Medicine
IF4.8
err2025-12-08
err0
errOAAI
errSeungbok Lee; Go Hun Seo; Soo Yeon Kim; Se Song Jang; Seoyun Jang; Songji Choi; Hyungjin Chin; Seung Jae Lee; Dong Eon Oh; Seung Woo Ryu; Jihye Kim; Dongseok Moon; Seokhui Jang; Byung Chan Lim; Jangsup Moon; Heonjong Han; Hane Lee; Jong-Hee Chae
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errSave
Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series
errBMC OPHTHALMOLOGY
IF1.7
err2025-11-04
err0
errOAAI
errLee, Seok Jae; Joo, Hye Jun; Jo, Dong Hyun; Jung, Jae Ho; Lee, Kihwang; Kim, Jeong Hun; Kim, Seong-Joon; Chae, Jong Hee
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Biallelic BRF2 Mutations Disrupt Redox Homeostasis as Etiological Factors in Syndromic Immunodeficiency and Developmental Disorders
errMolecular Therapy
IF12
err2025-08-07
err0
errOAAI
errSeobin Yoon; Seungbok Lee; Haeyoon Kwon; Hyo-Seung Kim; Jeong H. Joo; Soogil Hong; Soo Yeon Kim; Sesong Jang; Hyunju Lee; Hyoung Soo Choi; Anna Cho; Soyoung Jeong; Christine Suh-Yun Joh; Hyeonseo Oh; Eui-Hwan Choi; Murim Choi; Kangmo Ahn; Hyun Je Kim; Keun Pil Kim; Jong-Hee Chae
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errSave
Clinical features and outcomes of paediatric probable antibody-negative autoimmune encephalitis
errdevelopmental medicine and child neurology
IF0
err2025-08-02
err0
PREAI
errHye Jin Kim; Jong Ho Cha; Woojoong Kim; Soo Yeon Kim; Anna Cho; Hunmin Kim; Jong-Hee Chae; Jieun Choi; Ki Joong Kim; Byung Chan Lim
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errSave
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach
errCell Reports Medicine
IF10.6
err2025-06-30
err0
errOAAI
errSang-Yeon Lee; Seungbok Lee; Seongyeol Park; Sung Ho Jung; Yejin Yun; Won Hoon Choi; Ju Hyuen Cha; Hongseok Yun; Sangmoon Lee; Myung-Whan Suh; Moo Kyun Park; Jae-Jin Song; Byung Yoon Choi; Jun Ho Lee; Tong Mook Kang; Young Seok Ju; June-Young Koh; Jong-Hee Chae
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errSave
Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes
errNature Genetics
IF0
err2025-06-24
err0
errOAAI
errAdam Jackson; Nishi Thaker; Alexander Blakes; Gillian Rice; Sam Griffiths-Jones; Meena Balasubramanian; Jennifer Campbell; Nora Shannon; Jungmin Choi; Juhyeon Hong; David Hunt; Anna de Burca; Soo Yeon Kim; Taekeun Kim; Seungbok Lee; Melody Redman; Rocio Rius; Cas Simons; Tiong Yang Tan; Jamie Ellingford; Raymond T. O’Keefe; Jong Hee Chae; Siddharth Banka
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errSave
Clinical utility of complete blood count indices in pediatric MOG antibody-associated disease
errMULTIPLE SCLEROSIS AND RELATED DISORDERS
IF2.9
err2025-06-01
err0
PREAI
errKim, Young Ho; Kim, Soo Yeon; Yoo, Il Han; Lim, Byung Chan; Chae, Jong-Hee; Kim, Ki Joong; Kim, Woojoong
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errSave
Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders
errNPJ GENOMIC MEDICINE
IF4.8
err2025-05-15
err0
errOAAI
errJong Ho Cha; Jee Min Kim; Hee-Jeong Yun; Hyungjin Chin; Hye Jin Kim; Woojoong Kim; Soo Yeon Kim; Byung Chan Lim; Ki Joong Kim; Seungbok Lee; Jong-Hee Chae
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errSave
Single-cell transcriptomic analysis of GPP patients treated with IL-12/23 or IL-17A blockade
errJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
IF8
err2025-03-25
err0
PREAI
errSoyoung Jeong; Christine Suh-Yun Joh; Seungbok Lee; James G. Krueger; Jong-Hee Chae; Hyun Je Kim; Seong Jin Jo
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Phenotype of Relapsing Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease in Children
errJOURNAL OF CLINICAL NEUROLOGY
IF3.1
err2025-01-01
err0
PREAI
errHan, Ji Yeon; Kim, Soo Yeon; Kim, Woojoong; Kim, Hunmin; Cho, Anna; Choi, Jieun; Chae, Jong-Hee; Kim, Ki Joong; Kwon, Young Se; Yoo, Il Han; Lim, Byung Chan
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errSave
Exploring the Clinical Utility of Targeted MECP2 Testing in Real-World Practice
errPEDIATRIC NEUROLOGY
IF2.1
err2024-12-01
err0
PREAI
errKim, Soo Yeon; Woo, Hyewon; Lim, Byung Chan; Kim, Ki Joong; Chae, Jong-Hee
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errSave
Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-09-07
err0
errOAAI
errKim, Man Jin; Lee, Jee-Soo; Chae, Seung Won; Cho, Sung Im; Moon, Jangsup; Ko, Jung Min; Chae, Jong-Hee; Seong, Moon-Woo
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errSave
Discovery of novel disease-causing mutation in SSBP1 and its correction using adenine base editor to improve mitochondrial function
errMOLECULAR THERAPY NUCLEIC ACIDS
IF6.1
err2024-09-01
err0
errOAAI
errCha, Ju Hyuen; Lee, Seok-Hoon; Yun, Yejin; Choi, Won Hoon; Koo, Hansol; Jung, Sung Ho; Chae, Ho Byung; Lee, Dae Hee; Lee, Seok Jae; Jo, Dong Hyun; Kim, Jeong Hun; Song, Jae-Jin; Chae, Jong-Hee; Lee, Jun Ho; Park, Jiho; Kang, Jin Young; Bae, Sangsu; Lee, Sang-Yeon
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errSave
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable disorder
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-08-01
err0
errOAAI
errYoon, Jihoon G.; Lim, Seong-Kyun; Seo, Hoseok; Lee, Seungbok; Cho, Jaeso; Kim, Soo Yeon; Koh, Hyun Yong; Poduri, Annapurna H.; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; de Groot, Martijn J.; Ko, Jung Min; Han, Dohyun; Chae, Jong-Hee; Lee, Chul-Hwan
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Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22
errSCIENTIFIC REPORTS
IF3.9
err2024-08-01
err0
errOAAI
errLee, Cho-Rong; Kim, Man Jin; Park, Sang-Heon; Kim, Sheehyun; Kim, Soo Yeon; Koh, Seong-Joon; Lee, Seungbok; Choi, Murim; Chae, Jong Hee; Park, Sung-Gyoo; Moon, Jangsup
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errSave
Severe Neurological Manifestation Associated With Coronavirus Disease 2019 in Children During the Omicron Variant-Predominant Period
errPEDIATRIC NEUROLOGY
IF2.1
err2024-07-01
err1
PREAI
errKim, Minhye; Choi, Younghun; Kim, Soo Yeon; Cho, Anna; Kim, Hunmin; Chae, Jong Hee; Kim, Ki Joong; Park, Dasom; Kwon, Young Se; Kim, Min-Jee; Yum, Mi -Sun; Kong, Ju Hyun; Lee, Yoon Jin; Lim, Byung Chan
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errSave
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-06-01
err0
errOAAI
errKalm, Tassja; Schob, Claudia; Voeller, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Kloeckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E. H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L. I.; Holwerda, Sjoerd J. B.; Barakat, Tahsin Stefan; Bouman, Arjan; Slegtenhorst, Marjon van; Alvarez, Sara; Fernandez-Jaen, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylene; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Genevieve; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortum, Fanny; Kubisch, Christian; Bahring, Robert; Kindler, Stefan
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Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea
errDIABETES & METABOLISM JOURNAL
IF8.5
err2024-05-31
err1
errOAAI
errRho, Eun Hoo; Baek, Sang Ik; Lee, Heerah; Seong, Moon -Woo; Chae, Jong-Hee; Park, Kyong Soo; Kwak, Soo Heon
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Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-02-02
err14
errOAAI
errYoon, Jihoon G.; Lee, Seungbok; Cho, Jaeso; Kim, Narae; Kim, Sheehyun; Kim, Man Jin; Kim, Soo Yeon; Moon, Jangsup; Chae, Jong-Hee
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Research Directions

No research directions
Co-authors
Cooperation Journals
W
William B. Dobyns
H-index: 127 · Papers: 600
H
Henry Houlden
H-index: 120 · Papers: 1.5K
D
Deborah A. Nickerson
H-index: 120 · Papers: 675
H
Hugo J. Bellen
H-index: 117 · Papers: 611
E
Elaine H. Zackai
H-index: 113 · Papers: 1.1K
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