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

Safety and vision outcomes of subretinal gene supplementation therapy in PDE6A-associated retinitis pigmentosa: a non-randomised controlled trial

视网膜下基因补充疗法治疗PDE6A相关性视网膜色素变性的安全性和视力结果：一项非随机对照试验

期刊:British Journal of Ophthalmology
影响因子:3.5
doi:10.1136/bjo-2024-326480
Reichel, Felix F; Fischer, M Dominik; Stingl, Katarina; Kuehlewein, Laura; Seitz, Immanuel; Peters, Tobias; Ziegler, Melanie; Wilhelm, Barbara; Kohl, Susanne; Weisschuh, Nicole; Martus, Peter; Seeliger, Mathias; Muehlfriedel, Regine; Paquet-Durand, Francois; Tsang, Stephen H; Bartz-Schmidt, Karl Ulrich; Ueffing, Marius; Zrenner, Eberhart; Biel, Martin; Wissinger, Bernd; Michalakis, Stylianos
PDE6A
发表日期：2026
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Comprehensive functional splicing analysis of non-canonical CNGB3 variants using in vitro minigene splice assays.

利用体外微基因剪接试验对非经典 CNGB3 变体进行全面的功能剪接分析

期刊:Journal of Pathology
影响因子:5.2
doi:10.1002/path.6431
Rawnsley Katharina, Weisschuh Nicole, Kohl Susanne, Reuter Peggy
其它
发表日期：2025
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Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies

涉及ABCA4的双基因变异在视网膜营养不良中的临床表现

期刊:BMC Ophthalmology
影响因子:1.7
doi:10.1186/s12886-025-04048-1
Wolfram, Lasse; Merle, David A; Kühlewein, Laura; Reith, Milda; Kempf, Melanie; Stingl, Krunoslav; Haack, Tobias; Mazzola, Pascale; Poths, Karin; Weisschuh, Nicole; Wissinger, Bernd; Kohl, Susanne; Stingl, Katarina
ABCA4
发表日期：2025
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Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes

对TUBB4B基因中两个热点密码子及其相关表型的综合分析

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-024-61019-0
Bodenbender, Jan-Philipp; Marino, Valerio; Philipp, Julia; Tropitzsch, Anke; Kernstock, Christoph; Stingl, Katarina; Kempf, Melanie; Haack, Tobias B; Zuleger, Theresia; Mazzola, Pascale; Kohl, Susanne; Weisschuh, Nicole; Dell'Orco, Daniele; Kühlewein, Laura
UBB
发表日期：2024
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Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

诊断性基因组测序提高诊断率：一项针对 1000 名患有遗传性眼病的患者的前瞻性单中心研究

期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmg-2023-109470
Nicole Weisschuh #, Pascale Mazzola #, Theresia Zuleger #, Karin Schaeferhoff, Laura Kühlewein, Friederike Kortüm, Dennis Witt, Alexandra Liebmann, Ruth Falb, Lisa Pohl, Milda Reith, Lara G Stühn, Miriam Bertrand, Amelie Müller, Nicolas Casadei, Olga Kelemen, Carina Kelbsch, Christoph Kernstock, Pau
发表日期：2024
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Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach

通过多步骤高通量方法鉴定导致17型视网膜色素变性的新型3D基因组改变和复杂结构变异。

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2024.1469686
de Bruijn, Suzanne E; Panneman, Daan M; Weisschuh, Nicole; Cadena, Elizabeth L; Boonen, Erica G M; Holtes, Lara K; Astuti, Galuh D N; Cremers, Frans P M; Leijsten, Nico; Corominas, Jordi; Gilissen, Christian; Skowronska, Anna; Woodley, Jessica; Beggs, Andrew D; Toulis, Vasileios; Chen, Di; Cheetham, Michael E; Hardcastle, Alison J; McLaren, Terri L; Lamey, Tina M; Thompson, Jennifer A; Chen, Fred K; de Roach, John N; Urwin, Isabella R; Sullivan, Lori S; Roosing, Susanne
3D/类器官
发表日期：2024
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Defining Self-Management for Solid Organ Transplantation Recipients: A Mixed Method Study

实体器官移植受者自我管理定义：一项混合方法研究

期刊:Nursing Reports
影响因子:2
doi:10.3390/nursrep14020073
Brunner, Katie; Weisschuh, Lydia; Jobst, Stefan; Kugler, Christiane; Rebafka, Anne
发表日期：2024
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Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

TULP1基因的双等位基因变异与视网膜营养不良的异质性表型相关

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms24032709
Bodenbender, Jan-Philipp; Marino, Valerio; Bethge, Leon; Stingl, Katarina; Haack, Tobias B; Biskup, Saskia; Kohl, Susanne; Kühlewein, Laura; Dell'Orco, Daniele; Weisschuh, Nicole
发表日期：2023
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Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort

德国大型队列研究中由莱伯先天性黑蒙（LCA）相关基因致病变异引起的视网膜病变的遗传和临床特征

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms24108915
Zobor, Ditta; Brühwiler, Britta; Zrenner, Eberhart; Weisschuh, Nicole; Kohl, Susanne
视网膜病变
神经科学
发表日期：2023
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Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing

对 CNGA3 剪接变体的系统分析揭示了不同的异常剪接机制

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-023-29452-9
Reuter, Peggy; Walter, Magdalena; Kohl, Susanne; Weisschuh, Nicole
发表日期：2023
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