Jang Shin Yi相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

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

发表日期：2025

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Comparison of incidence, prevalence and death of aortic stenosis and aortic insufficiency in a nationwide Korean study

韩国全国性研究中主动脉瓣狭窄和主动脉瓣关闭不全的发病率、患病率和死亡率比较

期刊:Esc Heart Failure

影响因子:3.7

doi:10.1002/ehf2.15249

Jang, Shin Yi; Park, Sung-Ji; Kim, Eun Kyoung; Park, Seung Woo

发表日期：2025

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Novel causative RYR2 indel variant with exon and intron involvement inducing exon 13 skipping in a family exhibiting catecholaminergic polymorphic ventricular tachycardia.

一个患有儿茶酚胺能多形性室性心动过速的家族中，出现了一种新的致病性 RYR2 插入缺失变异，涉及外显子和内含子，导致外显子 13 跳跃

期刊:Frontiers in Genetics

影响因子:2.8

doi:10.3389/fgene.2025.1581535

Shin Ju Hyeon, Park Taek Kyu, Chang Sung-A, Jang Shin Yi, Huh June, Seol Chang Ahn, Park Kyoung-Jin, Kim Sung Hoon, Kim Duk-Kyung, Gwag Hye Bin, Jang Mi-Ae

发表日期：2025

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Natural History of Hypertrophic Cardiomyopathy in Korea: A Nationwide Population-Based Retrospective Cohort Study

韩国肥厚型心肌病自然史：一项基于全国人群的回顾性队列研究

期刊:Journal of Korean Medical Science

影响因子:2.3

doi:10.3346/jkms.2025.40.e61

Jang, Shin Yi; Kim, Wook Sung; Lee, Sang-Chol

发表日期：2025

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Is early use of sodium-glucose cotransporter type 2 inhibitor (SGLT2i) necessary even in diabetic patients without cardiovascular disease: a prospective study regarding the effect of SGLT2i on left ventricular diastolic function

即使在没有心血管疾病的糖尿病患者中，早期使用钠-葡萄糖协同转运蛋白2抑制剂（SGLT2i）是否必要：一项关于SGLT2i对左心室舒张功能影响的前瞻性研究

期刊:Journal of Cardiovascular Imaging

doi:10.1186/s44348-024-00043-0

Jeon, Kina; Jang, Shin Yi; Lee, You-Bin; Kim, Jihoon; Kim, Darae; Chang, Sung-A; Park, Sung-Ji; Lee, Sang-Chol; Park, Seung Woo; Lee, Moon-Kyu; Kim, Eun Kyoung; Hur, Kyu Yeon

心血管疾病

发表日期：2025

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A Single Center Experience of Pulmonary Arterial Hypertension Management in Korea: A 25-Year Comparative Analysis Following the Introduction of Targeted Therapy

韩国一家中心肺动脉高压管理经验：靶向治疗引入后25年的比较分析

期刊:Korean Circulation Journal

影响因子:3.1

doi:10.4070/kcj.2023.0316

Cha, Ji Hyun; Jang, Shin Yi; Song, Jinyoung; Kang, I-Seok; Huh, June; Park, Taek Kyu; Yang, Jeong Hoon; Park, Seung Woo; Kim, Hojoong; Kim, Duk-Kyung; Chang, Sung-A

肺动脉高压

发表日期：2024

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Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.

克服通过全基因组测序识别 FBN1 深内含子变异体所面临的挑战

期刊:Journal of Clinical Laboratory Analysis

影响因子:2.9

doi:10.1002/jcla.25009

Kim Jee Ah, Jang Mi-Ae, Jang Shin Yi, Kim Duk-Kyung, Kim Young-Gon, Kim Jong-Won, Park Taek Kyu, Jang Ja-Hyun

发表日期：2024

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Association Between Atopic Dermatitis and Suicidal Behaviors in North Korean Adolescent Defectors From 2011 to 2019

2011年至2019年朝鲜青少年脱北者特应性皮炎与自杀行为的关联性研究

期刊:Psychiatry Investigation

影响因子:1.8

doi:10.30773/pi.2023.0018

Jang, Shin Yi; Seo, Su Ra; Kim, Kyeongsug; Choi, Hye Ok; Lee, Chang-Kwan

发表日期：2024

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Prognosis of Chronic Kidney Disease and Metabolic Syndrome in Adults With Congenital Heart Disease

先天性心脏病成人慢性肾脏病和代谢综合征的预后

期刊:Journal of Korean Medical Science

影响因子:2.3

doi:10.3346/jkms.2023.38.e375

Jang, Shin Yi; Kim, Eun Kyoung; Chang, Sung-A; Huh, June; Song, Jinyoung; Kang, I-Seok; Park, Seung Woo

代谢综合征

发表日期：2023

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Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome

在血管型埃勒斯-当洛斯综合征患者中鉴定出两种新的COL3A1变异体

期刊:Molecular Genetics & Genomic Medicine

影响因子:1.6

doi:10.1002/mgg3.2240

Heo, Won Young; Jang, Shin Yi; Park, Taek Kyu; Ki, Chang-Seok; Kim, Jong-Won; Kim, Duk-Kyung; Jang, Ja-Hyun

发表日期：2023

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