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J

Jung Min Ko

seoul national university

28H指数
236论文数
2.7K被引数
收录论文 61
发表时间
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Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures将血液来源的表观遗传签名转化为细胞类型无关的分类器：获取产前表观遗传签名的捷径
errAmerican Journal of Human Genetics
IF8.1
err2026-07-23
err0
PREAI
errNikola Reko; Arteen Torabi-Marashi; Prajkta Kallurkar; Sarah J. Goodman; Zain Awamleh; Andrei L. Turinsky; Daria Grafodatskaya; Bianca E. Russell; Karen Chong; Jung Min Ko; Ebba Alkhunaizi; David Chitayat; Elena Greenfeld; Stephen W. Scherer; Elizabeth McCready; Rosanna Weksberg; Sanaa Choufani
err分享
err收藏
Two-year structural skeletal outcomes of burosumab therapy in pediatric X-linked hypophosphatemia: A radiographic cohort studyburosumab疗法在儿科X-连锁低磷血症中的两年结构性骨骼结局：一项放射学队列研究
errJOURNAL OF CHILDRENS ORTHOPAEDICS
IF1.6
err2025-11-01
err0
PREAI
errLim, Hayeon; Lee, Wonik; Choi, Naye; Lee, Yun Jeong; Shin, Chang Ho; Lee, Young Ah; Ko, Jung Min; Song, Mi Hyun
err分享
err收藏
Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patientsWiedemann-Steiner综合征：10例韩国儿科患者遗传特征及临床表型的描述
errBMC MEDICAL GENOMICS
IF2
err2025-10-06
err0
errOAAI
errYoo, Jeesun; Park, A. Young; Ko, Jung Min
err分享
err收藏
Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathiesNoonan综合征和相关rasopaths中感音神经性听力损失的基因特征和基因型-表型相关性
errSCIENTIFIC REPORTS
IF3.9
err2025-04-09
err0
errOAAI
errLee, Seung Jae; Jeong, Sohyang; Lee, Somin; Jung, Seong Ho; Suh, Myung-Whan; Song, Jae-Jin; Lee, Jun Ho; Ko, Jung Min; Park, Moo Kyun; Lee, Sang-Yeon
err分享
err收藏
Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center (vol 183, pg 3479, 2024)
errEUROPEAN JOURNAL OF PEDIATRICS
IF2.6
err2024-11-09
err0
errOAAI
errLee, Min Jeong; Park, Ji Soo; Kim, Kyunghoon; Ko, Jung Min; Park, June Dong; Suh, Dong In
err分享
err收藏
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
err分享
err收藏
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
err分享
err收藏
A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B
errANNALS OF LABORATORY MEDICINE
IF3.9
err2024-07-23
err0
errOAAI
errJang, Joowon; Im, Hara; Lee, Hyesu; Sung, Hobin; Cho, Sung Im; Lee, Jee-Soo; Ko, Jung Min; Seong, Moon-Woo
err分享
err收藏
Advancing orphan drug development for rare diseases
errCLINICAL AND EXPERIMENTAL PEDIATRICS
IF3.6
err2024-07-15
err0
errOAAI
errKo, Jung Min
err分享
err收藏
Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center
errEUROPEAN JOURNAL OF PEDIATRICS
IF2.6
err2024-05-23
err2
errOAAI
errLee, Min Jeong; Park, Ji Soo; Kim, Kyunghoon; Ko, Jung Min; Park, June Dong; Suh, Dong In
err分享
err收藏
Treatment Outcomes in Children With Catecholaminergic Polymorphic Ventricular Tachycardia: A Single Institutional Experience
errKOREAN CIRCULATION JOURNAL
IF3.1
err2024-01-01
err0
PREAI
errLee, Joowon; Kwon, Bo Sang; Song, Mi Kyoung; Lee, Sang-Yun; Ko, Jung Min; Kim, Gi Beom; Bae, Eun Jung
err分享
err收藏
Cardiovascular Characteristics and Progressions of Hypertrophic Cardiomyopathy and Pulmonary Stenosis in RASopathy Syndrome in the Genomic Era
errJOURNAL OF PEDIATRICS
IF3.5
err2023-11-01
err0
PREAI
errKim, Susan Taejung; Lee, Sang Yun; Kim, Gi Beom; Bae, Eun Jung; Ko, Jung Min; Song, Mi Kyoung
err分享
err收藏
Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures韩国年轻的软骨发育不全患者的生长方式和神经外科手术的可预测性
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2023-10-05
err0
errOAAI
errLee, Jong Seok; Shim, Youngbo; Cho, Tae-Joon; Kim, Seung-Ki; Ko, Jung Min; Phi, Ji Hoon
err分享
err收藏
The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-07-06
err3
PREAI
errKim, Man Jin; Kim, Boram; Lee, Heerah; Lee, Jee-Soo; Chae, Seung Won; Shin, Ho Seob; Cho, Sung Im; Kim, Soo Yeon; Moon, Jangsup; Lim, Byung Chan; Ko, Jung Min; Chae, Jong-Hee; Park, Sung Sup; Seong, Moon-Woo
err分享
err收藏
Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome
errANNALS OF LABORATORY MEDICINE
IF3.9
err2023-06-30
err0
errOAAI
errLee, Heerah; Lee, Jung Ae; Lee, Hyesu; Lee, Jee-Soo; Ko, Jung Min; Kim, Man Jin; Seong, Moon-Woo
err分享
err收藏
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases使用干血斑样本对疑似可行遗传病患者进行快速靶向测序
errANNALS OF LABORATORY MEDICINE
IF3.9
err2022-12-22
err12
errOAAI
errKim, Man Jin; Kim, Soo Yeon; Lee, Jin Sook; Kang, Sanggoo; Park, Lae-Jeong; Choi, Wooyong; Jung, Ju Yeol; Kim, Taehyung; Park, Sung Sup; Ko, Jung Min; Seong, Moon-Woo; Chae, Jong Hee
err分享
err收藏
Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome
errANNALS OF LABORATORY MEDICINE
IF3.9
err2022-11-01
err3
errOAAI
errKim, Hwa Young; Shin, Choong Ho; Lee, Young Ah; Shin, Chang Ho; Kim, Gu-Hwan; Ko, Jung Min
err分享
err收藏
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2022-10-08
err6
errOAAI
errKim, Soo Yeon; Lee, Seungbok; Woo, Hyewon; Han, Jiyeon; Ko, Young Jun; Shim, Youngkyu; Park, Soojin; Jang, Se Song; Lim, Byung Chan; Ko, Jung Min; Kim, Ki Joong; Cho, Anna; Kim, Hunmin; Hwang, Hee; Choi, Ji Eun; Kim, Man Jin; Moon, Jangsup; Seong, Moon-Woo; Park, Sung Sup; Choi, Sun Ah; Lee, Ji Eun; Kwon, Young Se; Sohn, Young Bae; Kim, Jon Soo; Kim, Won Seop; Lee, Yun Jeong; Kwon, Soonhak; Kim, Young Ok; Kook, Hoon; Cho, Yong Gon; Cheon, Chong Kun; Kang, Ki-Soo; Song, Mi-Ryoung; Kim, Young-Joon; Cha, Hyuk-Jin; Choi, Hee-Jung; Kee, Yun; Park, Sung-Gyoo; Baek, Seung Tae; Choi, Murim; Ryu, Dong-Sung; Chae, Jong-Hee
err分享
err收藏
Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II
errANNALS OF LABORATORY MEDICINE
IF3.9
err2022-05-01
err2
errOAAI
errKim, Hwa Young; Kim, Man Jin; Seong, Moon-Woo; Ko, Jung Min
err分享
err收藏
The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism
errANNALS OF LABORATORY MEDICINE
IF3.9
err2022-05-01
err0
errOAAI
errLee, Youngeun; Park, Hyun Jin; Kang, Hyoung Jin; Ko, Jung Min; Kim, Boram; Chang, Yoon Hwan; Kim, Hyun Kyung; Lee, Jee-Soo; Kim, Man Jin; Park, Sung Sup; Seong, Moon-Woo
err分享
err收藏

研究方向

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合作学者
合作期刊
H
Håkon Håkonarson
H 指数: 177 · 论文数: 1.5K
E
Elaine H. Zackai
H 指数: 113 · 论文数: 1.1K
J
J. Lee
H 指数: 110 · 论文数: 1.6K
J
Jae Il Shin
H 指数: 94 · 论文数: 978
K
Katsuhiko Shirahige
H 指数: 85 · 论文数: 331
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