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M

Mi‐Ae Jang

Samsung Medical Center

22H指数
176论文数
1.7K被引数
收录论文 81
发表时间
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Resolving a Complex Neonatal Phenotype by Rapid Trio Whole-Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing-Altering Synonymous ANK1 Variant通过快速三联全基因组测序解析复杂新生儿表型：一个新生11q14.3–q22.3缺失和一个影响剪接的同义ANK1变异
errJournal of Clinical Laboratory Analysis
IF2.9
err2026-06-18
err0
errOAAI
errHyun-Woo Lee; Ja-Hyun Jang; Beom Hee Lee; Hee-Jeong Youk; Eun Sun Kim; Kee Hyun Cho; Yun Sil Chang; Heui Seung Jo; Mi-Ae Jang
err分享
err收藏
Accelerating genetic diagnosis in the NICU: neonatologist-driven rapid whole genome sequencing加速NICU中的遗传诊断：新生儿科医生驱动的快速全基因组测序
errScientific Reports
IF3.9
err2026-05-15
err0
errOAAI
errHye-Won Cho; Jeong-Min Kim; Sung Hyeon Park; Hyeseon Kim; Dong Mun Shin; Ho-Yeong Yu; Misun Yang; So Yoon Ahn; Se In Sung; Bong-Jo Kim; Mi-Hyun Park; Mi-Ae Jang; Yun Sil Chang; Hyun-Young Park
err分享
err收藏
Genotype-Driven Prognostication in Dilated Cardiomyopathy基因型驱动的扩张型心肌病预后预测
errKorean Circulation Journal
IF3.1
err2026-05-01
err0
PREAI
errHong, David; Kim, Young-Gon; Bang, Seung Hyeok; Hong, Minseok; Shin, Heayoung; Shin, Ju Hyeon; Jeong, Oksoon; Bak, Minjung; Kim, Darae; Kim, Jihoon; Jang, Mi-Ae; Choi, Jin-Oh
err分享
err收藏
Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation
errJOURNAL OF CLINICAL LABORATORY ANALYSIS
IF2.9
err2025-12-01
err0
errOAAI
errHong, Youn-Ji; Yang, Misun; Kwon, Hyeon Jeong; Cha, Jooyoung; Jang, Ja-Hyun; Wang, Sung Eun; Lee, Eun Sun; Jang, Mi-Ae
err分享
err收藏
PREVALENCE OF PATHOGENICTSC1 ANDTSC2 VARIANTS IN THE KOREAN POPULATION BASED ON LARGE-SCALE GENOMIC DATA基于大规模基因组数据的韩国人群致病性TSC1和TSC2变异的流行率
errNEURO-ONCOLOGY
IF13.4
err2025-11-01
err0
errOAAI
errPark, Jong Eun; Yu, Mi-Yeon; Lee, Taeheon; Cho, Eun Hye; Jang, Mi-Ae; Won, Dongju; Park, Boyoung; Ha, Jung-Sook; Kim, Do Hoon; Kim, Kyoung-Bo; Ki, Chang-Seok; Kong, Sun-Young
err分享
err收藏
Clinical Application of Using Diffusion-Based Wasserstein Generative Adversarial Network for Morphologic Analysis of Blood Cells基于扩散的Wasserstein生成对抗网络在血细胞形态分析中的临床应用
errJournal of Clinical Laboratory Analysis
IF2.9
err2025-10-06
err0
errOAAI
errHyun-Young Kim; Emmanuel Edward Ngasa; Hee-Jin Kim; Boram Kim; Gyujin Lim; Chang-Hun Park; Hyeon Jeong Kwon; Mi-Ae Jang; Jiyoung Woo
err分享
err收藏
Genetic epidemiology of moyamoya disease and CADASIL in over 120,000 healthy Korean individuals: Insights into cerebrovascular disorders烟雾病和CADASIL在超过12万名健康韩国人群中的遗传流行病学：对脑血管疾病的见解
errPLOS ONE
IF2.6
err2025-09-22
err0
PREAI
errCho, Eun Hye; Lee, Myoungkeun; Ki, Chang-Seok; Seol, Chang Ahn; Jang, Mi-Ae
err分享
err收藏
Prevalence of germline CHEK2 variants in East Asians and Koreans based on population genomic databases基于人群基因组数据库的东亚人和韩国人群体细胞CHEK2变异流行率
errBreast Cancer
IF2.9
err2025-09-16
err0
PREAI
errJong Eun Park; Taeheon Lee; Eun Hye Cho; Mi-Ae Jang; Dongju Won; Boyoung Park; Jung-Sook Ha; Do Hoon Kim; Kyoung-Bo Kim; Chang-Seok Ki; Sun-Young Kong
err分享
err收藏
Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance使用新的ClinGen PP1/PP4标准指南重新评估肿瘤抑制基因中的意义不明确的变异。
errEuropean Journal of Human Genetics
IF4.6
err2025-07-23
err0
errOAAI
errYoung-gon Kim; Changhee Ha; Ja-Hyun Jang; Mi-Ae Jang; Jong-Won Kim
err分享
err收藏
Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa: Molecular Genetics and Clinical Characteristics色素性视网膜炎GTP酶调节因子相关X连锁色素性视网膜炎：分子遗传学与临床特征
errAMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
err2025-06-01
err0
PREAI
errHwang, S; Jeon, S; Yoon, JM; Woo, SJ; Joo, K; Choi, YJ; Yoon, CK; Kim, M; Lee, HJ; Byeon, SH; Lee, CS; Jeon, J; Kim, JY; Han, J; Surl, D; Sagong, M; Jeong, A; Park, TK; Park, HS; Kim, M; Hong, YJ; Jang, JH; Jang, MA; Kim, SJ
err分享
err收藏
Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-04-01
err0
errOAAI
errShin, Ju Hyeon; Kim, Young-gon; Jang, Shin Yi; Huh, June; Kim, Duk-Kyung; Kim, Jong-Won; Jang, Ja-Hyun; Park, Taek Kyu; Jang, Mi-Ae
err分享
err收藏
Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans基于东亚人和韩国人数据库分析的MUTYH相关息肉病的载波频率和发病率
errANNALS OF LABORATORY MEDICINE
IF3.9
err2024-11-05
err0
errOAAI
errPark, Jong Eun; Lee, Taeheon; Cho, Eun Hye; Jang, Mi-Ae; Won, Dongju; Park, Boyoung; Ki, Chang-Seok; Kong, Sun-Young
err分享
err收藏
Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them
errSCIENTIFIC REPORTS
IF3.9
err2024-10-24
err1
errOAAI
errJang, Mi-Ae; Lee, Jong Kwon; Park, Jong-Ho; Hwang, Sungsoon; Kim, Young-gon; Kim, Jong-Won; Hong, Youn-Ji; Kim, Sang Jin; Jang, Ja-Hyun
err分享
err收藏
Newly developed oral bioavailable EHMT2 inhibitor as a potential epigenetic therapy for Prader-Willi syndrome
errMOLECULAR THERAPY
IF12
err2024-08-01
err1
PREAI
errWang, Sung Eun; Xiong, Yan; Jang, Mi-Ae; Park, Kwang-Su; Donahue, Meaghan; Velez, Julia; Jin, Jian; Jiang, Yong-hui
err分享
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Performance evaluation of the SMG HHV-6 Q Real-Time PCR Kit for quantitative detection and differentiation of human herpesvirus 6A and 6B
errMICROBIOLOGY SPECTRUM
IF3.8
err2024-04-02
err0
errOAAI
errKim, Tae Yeul; Park, Min-Seung; Yun, Sun Ae; Kang, Minhee; Kim, Doo Ri; Shin, Areum; Kim, Hyun-Young; Jang, Mi-Ae; Jang, Ja-Hyun; Kwon, Min-Jung; Huh, Hee Jae; Kim, Yae-Jean; Lee, Nam Yong
err分享
err收藏
Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel
errJOURNAL OF MOLECULAR DIAGNOSTICS
IF3.4
err2024-04-01
err0
errOAAI
errLee, Jong Kwon; Kwon, Hyemi; Park, Jong-Ho; Jang, Mi-Ae; Kim, Young-gon; Kim, Jong-Won; Choi, Byung-Ok; Jang, Ja-Hyun
err分享
err收藏
WBC YOLO-ViT: 2 Way-2 stage white blood cell detection and classification with a combination of YOLOv5 and vision transformer
errCOMPUTERS IN BIOLOGY AND MEDICINE
IF6.3
err2024-02-01
err9
PREAI
errTarimo, Servas Adolph; Jang, Mi-Ae; Ngasa, Emmanuel Edward; Shin, Hee Bong; Shin, Hyojin; Woo, Jiyoung
err分享
err收藏
Next-Generation Sequencing-Based Molecular Profiling Using Cell-Free DNA: A Valuable Tool for the Diagnostic and Prognostic Evaluation of Patients With Gastric Cancer
errANNALS OF LABORATORY MEDICINE
IF3.9
err2023-10-26
err1
errOAAI
errJang, Mi-Ae
err分享
err收藏
Serum-free alginate-C2C12 cells microcapsule as a model of alternative animal protein source
errFRONTIERS IN NUTRITION
IF5.1
err2023-05-11
err2
errOAAI
errScheffold, Jana; Bruheim, Per; Kjesbu, Joachim Sebastian; Jang, Mi
err分享
err收藏
Design and Implementation of Data-Based Validation and Evaluation System for Combat System Engineering基于数据的作战系统工程验证评估系统设计与实现
errIEEE ACCESS
IF3.6
err2023-01-01
err0
errOAAI
errPark, Hee-Mun; Jang, Mi; Kim, Yong-Jae; Jung, Hyun-Joo; Seo, Kyung-Min
err分享
err收藏

研究方向

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合作学者
合作期刊
C
Carlo Gambacorti‐Passerini
H 指数: 89 · 论文数: 805
E
Elizabeth Gould
H 指数: 87 · 论文数: 320
G
Guido Cavaletti
H 指数: 85 · 论文数: 794
M
Myung‐Shik Lee
H 指数: 83 · 论文数: 379
J
Jong‐Young Lee
H 指数: 78 · 论文数: 641
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