日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease

韩国视网膜色素变性患者的年龄分层遗传谱：RPGR变异在早发型疾病中占主导地位

期刊:Annals of Laboratory Medicine
影响因子:3.9
doi:10.3343/alm.2025.0146
Hong, Youn-Ji; Hwang, Sungsoon; Jang, Ja-Hyun; Kim, Jong-Won; Kim, Sang Jin; Jang, Mi-Ae
发表日期：2026
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Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation

Schaaf-Yang综合征中新发MAGEL2致病变异的鉴定及其父系等位基因确认的重要性

期刊:Journal of Clinical Laboratory Analysis
影响因子:2.9
doi:10.1002/jcla.70152
Hong, Youn-Ji; Yang, Misun; Kwon, Hyeon Jeong; Cha, Jooyoung; Jang, Ja-Hyun; Wang, Sung Eun; Lee, Eun Sun; Jang, Mi-Ae
MAG
发表日期：2026
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Mechanism of EHMT2-mediated genomic imprinting associated with Prader-Willi syndrome.

与普拉德-威利综合征相关的 EHMT2 介导的基因组印记机制

期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-025-61156-8
Wang Sung Eun, Cheng Yubao, Lim Jaechul, Jang Mi-Ae, Forrest Emily N, Kim Yuna, Donahue Meaghan, Jo Sungsin, Qiao Sheng-Nan, Lee Dong Eun, Hong Jun Young, Xiong Yan, Jin Jian, Wang Siyuan, Jiang Yong-Hui
EHMT2
发表日期：2025
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Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria

使用更新的 ClinGen 指南对意义未明的 FBN1 变异体进行重新评估，以符合 PP1/BS4 和 PP4 标准。

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01826-9
Shin, 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
FBN1
发表日期：2025
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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意义未明的变异

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01911-z
Kim, Young-Gon; Ha, Changhee; Jang, Ja-Hyun; Jang, Mi-Ae; Kim, Jong-Won
肿瘤
肿瘤免疫
发表日期：2025
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Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population

韩国大型人群中上皮-间质TGFBI营养不良的遗传流行病学研究

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-08189-7
Cho, Eun Hye; Lee, Myoungkeun; Ki, Chang-Seok; Seol, Chang Ahn; Jang, Mi-Ae
发表日期：2025
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Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans

基于数据库分析的东亚人和韩国人MUTYH相关息肉病的携带者频率和发病率

期刊:Annals of Laboratory Medicine
影响因子:3.9
doi:10.3343/alm.2024.0242
Park, Jong Eun; Lee, Taeheon; Cho, Eun Hye; Jang, Mi-Ae; Won, Dongju; Park, Boyoung; Ki, Chang-Seok; Kong, Sun-Young
MUTYH
发表日期：2025
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Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants

基于对致病性SLC25A13变异体的综合分析，东亚人和韩国人中瓜氨酸缺乏症的携带者频率和患病率

期刊:Annals of Laboratory Medicine
影响因子:3.9
doi:10.3343/alm.2024.0631
Jang, Mi-Ae; Heo, Won Young; Lee, Jong Kwon; Kim, Jong-Won; Kim, Sang-Mi; Jang, Ja-Hyun; Park, Hyung-Doo
发表日期：2025
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Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity

新生儿肥厚型心肌病中新型MYO19变异体的鉴定：一项家族分析揭示了导致疾病严重程度的寡基因因素。

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03871-5
Cho, Hye-Won; Kim, Hyeseon; Kim, Jeong-Min; Shin, Dong Mun; Kim, Oc-Hee; Yang, Misun; Jo, Heui Seung; Jang, Mi-Ae; Jang, Ja-Hyun; Park, Hyun-Young; Chang, Yun Sil; Park, Mi-Hyun
心血管
心肌病
发表日期：2025
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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

期刊:Journal of Clinical Laboratory Analysis
影响因子:2.9
doi:10.1002/jcla.70118
Kim, Hyun-Young; Ngasa, Emmanuel Edward; Kim, Hee-Jin; Kim, Boram; Lim, Gyujin; Park, Chang-Hun; Kwon, Hyeon Jeong; Jang, Mi-Ae; Woo, Jiyoung
细胞生物学
发表日期：2025
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