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

A homozygous variant in cardiac troponin I3, TNNI3, causes severe pediatric restrictive cardiomyopathy

心肌肌钙蛋白I3（TNNI3）的纯合变异会导致严重的儿童限制性心肌病。

期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2026.100598
Kühnisch, Jirko; Barnett, Cara L; Brendel, Josephine; Berklite, Lara; Villa, Chet; Seifert, Wenke; Klaassen, Sabine; Klingel, Karin; Weaver, K Nicole
心血管
心肌病
TNNI3
发表日期：2026
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Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators

Prdm16 突变决定性别特异性心脏代谢，并鉴定出两种新的心脏代谢调节因子。

期刊:Cardiovascular Research
影响因子:13.3
doi:10.1093/cvr/cvad154
Kühnisch, Jirko; Theisen, Simon; Dartsch, Josephine; Fritsche-Guenther, Raphaela; Kirchner, Marieluise; Obermayer, Benedikt; Bauer, Anna; Kahlert, Anne-Karin; Rothe, Michael; Beule, Dieter; Heuser, Arnd; Mertins, Philipp; Kirwan, Jennifer A; Berndt, Nikolaus; MacRae, Calum A; Hubner, Norbert; Klaassen, Sabine
代谢
发表日期：2024
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Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.

基因检测结果解读对Cohen综合征中VPS13B错义变异的影响

期刊:Frontiers in Neuroscience
影响因子:3.2
doi:10.3389/fnins.2024.1488133
Schottmann Gudrun, Martínez Almudéver Carmen, Knop Julia C M, Suk Eun Kyung, Meyer Zianka, Kohlhase Jürgen, Himmelreich Nastassja, Kühnisch Jirko, Ott Claus-Eric, Seifert Wenke
其它
发表日期：2024
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Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome

罕见 VPS13B 错义变异与神经发育科恩综合征的疾病相关性

期刊:Scientific Reports
影响因子:3.8
doi:10.1038/s41598-022-13717-w
Malte Zorn #, Jirko Kühnisch #, Sebastian Bachmann, Wenke Seifert
神经
发表日期：2022
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Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?

心肌病致病基因变异是儿童心肌炎的根本原因——杂合免疫疾病基因变异的进一步影响？

期刊:Journal of Cardiovascular Development and Disease
影响因子:2.3
doi:10.3390/jcdd9070216
Seidel, Franziska; Laser, Kai Thorsten; Klingel, Karin; Dartsch, Josephine; Theisen, Simon; Pickardt, Thomas; Holtgrewe, Manuel; Gärtner, Anna; Berger, Felix; Beule, Dieter; Milting, Hendrik; Schubert, Stephan; Klaassen, Sabine; Kühnisch, Jirko
心肌炎
心血管
心肌病
免疫/内分泌
发表日期：2022
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Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis

与扩张型心肌病相关的致病变异可预测儿童心肌炎的预后

期刊:Circulation-Genomic and Precision Medicine
影响因子:5.5
doi:10.1161/CIRCGEN.120.003250
Seidel, Franziska; Holtgrewe, Manuel; Al-Wakeel-Marquard, Nadya; Opgen-Rhein, Bernd; Dartsch, Josephine; Herbst, Christopher; Beule, Dieter; Pickardt, Thomas; Klingel, Karin; Messroghli, Daniel; Berger, Felix; Schubert, Stephan; Kühnisch, Jirko; Klaassen, Sabine
心肌炎
心血管
心肌病
发表日期：2021
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Midwall Fibrosis and Cardiac Mechanics: Rigid Body Rotation Is a Novel Marker of Disease Severity in Pediatric Primary Dilated Cardiomyopathy

心肌中层纤维化与心脏力学：刚体旋转是儿童原发性扩张型心肌病疾病严重程度的新型标志物

期刊:Frontiers in Cardiovascular Medicine
影响因子:2.9
doi:10.3389/fcvm.2021.810005
Al-Wakeel-Marquard, Nadya; Seidel, Franziska; Kühnisch, Jirko; Kuehne, Titus; Berger, Felix; Messroghli, Daniel R; Klaassen, Sabine
心血管
心肌病
发表日期：2021
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Characterizing the in-out asymmetry in visual crowding

描述视觉拥挤中的内外不对称性

期刊:Journal of Vision
影响因子:2.3
doi:10.1167/jov.21.11.10
Chakravarthi, Ramakrishna; Rubruck, Jirko; Kipling, Nikki; Clarke, Alasdair D F
发表日期：2021
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Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy

收缩功能降低而非基因变异决定儿童和成人左心室致密化不全性心肌病的预后

期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2021.722926
Schultze-Berndt, Alina; Kühnisch, Jirko; Herbst, Christopher; Seidel, Franziska; Al-Wakeel-Marquard, Nadya; Dartsch, Josephine; Theisen, Simon; Knirsch, Walter; Jenni, Rolf; Greutmann, Matthias; Oechslin, Erwin; Berger, Felix; Klaassen, Sabine
心血管
心肌病
发表日期：2021
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Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene

家族性复发性心肌炎由运动诱发，见于携带桥粒蛋白基因截断变异的患者

期刊:Journal of the American Heart Association
影响因子:5.3
doi:10.1161/JAHA.119.015289
Poller, Wolfgang; Haas, Jan; Klingel, Karin; Kühnisch, Jirko; Gast, Martina; Kaya, Ziya; Escher, Felicitas; Kayvanpour, Elham; Degener, Franziska; Opgen-Rhein, Bernd; Berger, Felix; Mochmann, Hans-Christian; Skurk, Carsten; Heidecker, Bettina; Schultheiss, Heinz-Peter; Monserrat, Lorenzo; Meder, Benjamin; Landmesser, Ulf; Klaassen, Sabine
心肌炎
心血管
发表日期：2020
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