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

Integrating breast tumour homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification

整合乳腺肿瘤同源重组缺陷状态以辅助生殖系 BRCA1 和 BRCA2 变异分类

期刊:EBioMedicine
影响因子:10.8
doi:10.1016/j.ebiom.2026.106199
Fortuno, Cristina; Zhang, Jia; Koufariotis, Lambros T; Hollway, Georgina; Wood, Scott; Pearson, John V; Simpson, Peter T; Lakhani, Sunil R; McCart Reed, Amy E; Thorne, Heather; Mann, G Bruce; Skandarajah, Anita R; Devereux, Lisa; Zhao, Qihong; De Silva, Dilanka L; Lindeman, Geoffrey J; Waring, Paul; James, Paul A; Campbell, Ian; Spurdle, Amanda B; Waddell, Nicola
BRCA1
BRCA2
肿瘤
肿瘤免疫
发表日期：2026
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Urgent need to recognize that Disease-Causing TP53 variants with atypical penetrance require distinct clinical recommendations

迫切需要认识到，具有非典型外显率的致病性TP53变异需要不同的临床建议。

期刊:Jnci-Journal of the National Cancer Institute
影响因子:7.2
doi:10.1093/jnci/djag015
Kratz, Christian P; Frone, Megan N; Khincha, Payal P; Hatton, Jessica N; Penkert, Judith; James, Paul A; Spurdle, Amanda B; Fortuno, Cristina
P53
发表日期：2026
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A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

基于贝叶斯方法的定量基因特异性变异分类：更新的专家组建议改进了李-弗劳梅尼综合征TP53种系变异的分类。

期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-025-01536-3
Fortuno, Cristina; Frone, Megan N; Mester, Jessica; de la Hoya, Miguel; Mai, Phuong L; Pesaran, Tina; Achatz, Maria Isabel; Bassett, Rebecca; Bustamante, Carolina; Crowley, Stephanie; de Andrade, Kelvin Cesar; Evans, D Gareth; Feng, Bingjian; Fuqua, Laura; Harrell, Maria Isabel; Hatton, Jessica N; Huether, Robert; Kesserwan, Chimene; Lee, Kristy; MacFarland, Suzanne P; Maciaszek, Jamie L; Maxwell, Kara; McGoldrick, Kelly; Murphy, Maureen; Nehoray, Bita; Penkert, Judith; Pinto, Emilia Modolo; Plon, Sharon E; Schwartz-Levine, Alison; Thompson, Ashley S; Wang, Wenyi; Zambetti, Gerard P; Zelley, Kristin; James, Paul A; Savage, Sharon A; Kratz, Christian P; Spurdle, Amanda B
P53
发表日期：2025
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Novel insights into beta cell ER stress CHOP and its role in HFpEF development.

对β细胞内质网应激CHOP及其在HFpEF发展中的作用的新见解

期刊:Cardiovascular Diabetology
影响因子:10.6
doi:10.1186/s12933-025-02703-x
Srinivas Balaji, Fortuno Paula, Peng Hongmei, Xu Jiang, Suhail Hamid, Sabbah Hani N, Rhaleb Nour-Eddine, Matrougui Khalid
细胞生物学
HOP
氧化应激
发表日期：2025
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ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence

ACMG/AMP对BRCA1错义变异的解读：基于结构的评分为PP3/BP4计算证据增加了证据强度的细粒度

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.12.011
Ramadane-Morchadi, Lobna; Rotenberg, Nitsan; Esteban-Sánchez, Ada; Fortuno, Cristina; Gómez-Sanz, Alicia; Varga, Matthew J; Chamberlin, Adam; Richardson, Marcy E; Michailidou, Kyriaki; Pérez-Segura, Pedro; Spurdle, Amanda B; de la Hoya, Miguel
BRCA1
发表日期：2025
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Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants

蛋白质稳定性评分与AlphaMissense评分的整合提高了对p53错义突变和框内氨基酸缺失变异的生物信息学影响预测。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.01.012
Rotenberg, Nitsan; Fortuno, Cristina; Varga, Matthew J; Chamberlin, Adam C; Ramadane-Morchadi, Lobna; Feng, Bing-Jian; de la Hoya, Miguel; Richardson, Marcy E; Spurdle, Amanda B
发表日期：2025
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Endothelial CHOP as a central mechanism in renovascular hypertension-induced vascular endothelial dysfunction and cardiac fibrosis.

内皮CHOP是肾血管性高血压诱发血管内皮功能障碍和心脏纤维化的核心机制

期刊:Cellular and Molecular Life Sciences
影响因子:6.2
doi:10.1007/s00018-025-05741-6
Srinivas B, Alluri K, Fortuno P, Rizzi M, Suhail H, Rhaleb N, Matrougui K
心血管
高血压
HOP
血管生成
发表日期：2025
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TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact

对 TP53 微基因 161 个序列变化的分析表明，空间限制和调控元件在变异诱导的剪接影响中发挥着重要作用。

期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-025-00498-0
Canson, Daffodil M; Llinares-Burguet, Inés; Fortuno, Cristina; Sanoguera-Miralles, Lara; Bueno-Martínez, Elena; de la Hoya, Miguel; Spurdle, Amanda B; Velasco-Sampedro, Eladio A
信号转导
P53
发表日期：2025
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A highly effective, rodent model of complete heart block by epicardial radiofrequency ablation

一种通过心外膜射频消融术建立的高效啮齿动物完全性房室传导阻滞模型

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-24479-6
Weltz, Alexander N; Fortuno-Miranda, Lea; Kolandaivelu, Aravindan; Fan, Jinqi; Ramirez, Rafael J; Cho, Hee Cheol
发表日期：2025
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Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53

预测高危癌症易感基因TP53中外显率降低变异的特征

期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2025.100484
Fortuno, Cristina; Richardson, Marcy E; Pesaran, Tina; McGoldrick, Kelly; James, Paul A; Spurdle, Amanda B
肿瘤
P53
肿瘤免疫
发表日期：2025
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