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

Concordance Analysis of Microsatellite Instability via NGS and Mismatch Repair Deficiency via IHC in Endometrial and Colorectal Cancer

利用NGS检测微卫星不稳定性，并利用IHC检测子宫内膜癌和结直肠癌错配修复缺陷，进行一致性分析

期刊:Targeted Oncology
影响因子:4
doi:10.1007/s11523-026-01197-1
Nero, Camilla; Salvatore, Lisa; Duranti, Simona; Anderson, Gloria; Mastrantoni, Luca; Karimi, Mina; Mantini, Giulia; Minucci, Angelo; Maneri, Giulia; Giacò, Luciano; Santoro, Angela; Panfili, Arianna; Piermattei, Alessia; Marino, Ilenia; Caira, Giulia; Calegari, Maria Alessandra; Trovato, Giovanni; Iacobelli, Valentina; Salutari, Vanda; Normanno, Nicola; Fanfani, Francesco; Scambia, Giovanni; Tortora, Giampaolo
肿瘤
肠癌
子宫内膜癌
肿瘤免疫
发表日期：2026
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Prevalence and Clinical Correlates of Sleep Disorders in RFC1-Spectrum Disorders: A Cross-Sectional Study

RFC1谱系障碍患者睡眠障碍的患病率及临床相关因素：一项横断面研究

期刊:Movement Disorders
影响因子:7.6
doi:10.1002/mds.30279
Funcis, Antonio; Brunetti, Valerio; Rossi, Salvatore; Zanna, Giammarco Dalla; de Scisciolo, Martina; Maneri, Giulia; Di Stasio, Enrico; Petrucci, Antonio; Della Marca, Giacomo; Silvestri, Gabriella
发表日期：2025
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RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update

RET基因改变在临床实践中的应用：一项综合综述和数据库更新

期刊:Genes
影响因子:2.8
doi:10.3390/genes16121472
Ricciardi Tenore, Claudio; Tulli, Eugenia; Perrucci, Alessia; Bertozzi, Roberto; Fortuna, Ludovica; Maneri, Giulia; Santonocito, Concetta; Urbani, Andrea; De Bonis, Maria; Minucci, Angelo
RET
发表日期：2025
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Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS Study

在FFPE卵巢癌样本中检测具有临床意义的BRCA大片段基因组重排：一项比较NGS研究

期刊:Genes
影响因子:2.8
doi:10.3390/genes16091052
Perrucci, Alessia; De Bonis, Maria; Maneri, Giulia; Ricciardi Tenore, Claudio; Concolino, Paola; Corsi, Matteo; Conca, Alessandra; Evangelista, Jessica; Piermattei, Alessia; Nero, Camilla; Giacò, Luciano; De Paolis, Elisa; Fagotti, Anna; Minucci, Angelo
肿瘤
肿瘤免疫
卵巢癌
发表日期：2025
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Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene.

除了 BRCA1/2 基因之外，卵巢癌还涉及 ATM 基因中的种系致病变异

期刊:Molecular Biology Reports
影响因子:2.8
doi:10.1007/s11033-025-10357-x
Guadagnolo Daniele, Minucci Angelo, Chiavassa Antonella, Gentile Gabriella, Salvatori Francesca, Khaleghi Hashemian Nader, Maneri Giulia, Piane Maria, Grotta Simona, Grammatico Paola, Pizzuti Antonio, Santini Daniele, De Marchis Laura
肿瘤
卵巢癌
BRCA1
发表日期：2025
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Germline reflex BRCA1/2 testing following tumor-only comprehensive genomic profiling: why, when, and how

仅针对肿瘤进行全面基因组分析后，进行生殖系反射性 BRCA1/2 检测：原因、时机和方法

期刊:JNCI Cancer Spectrum
影响因子:4.1
doi:10.1093/jncics/pkae096
Maneri, Giulia; Nero, Camilla; Giacò, Luciano; Scambia, Giovanni; Minucci, Angelo
BRCA1
肿瘤
肿瘤免疫
发表日期：2024
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Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay

利用正在开发的用于商业化下一代测序同源重组缺陷检测的拷贝数变异算法，识别BRCA1中多重连接依赖性探针扩增的假阳性结果

期刊:Annals of Laboratory Medicine
影响因子:3.9
doi:10.3343/alm.2024.0051
Concolino, Paola; De Paolis, Elisa; Rinelli, Martina; Maneri, Giulia; Brisighelli, Francesca; Trozzi, Rita; Duranti, Simona; Giacò, Luciano; Piane, Maria; Preziosi, Alessia; Panfili, Arianna; Scambia, Giovanni; Nero, Camilla; De Bonis, Maria; Minucci, Angelo
BRCA1
发表日期：2024
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The novel CFTR haplotype E583G/F508del in CFTR-related disorder

CFTR相关疾病中的新型CFTR单倍型E583G/F508del

期刊:Molecular Biology Reports
影响因子:2.8
doi:10.1007/s11033-024-09732-x
De Paolis, Elisa; Tilocca, Bruno; Inchingolo, Riccardo; Lombardi, Carla; Perrucci, Alessia; Maneri, Giulia; Roncada, Paola; Varone, Francesco; Luca, Richeldi; Urbani, Andrea; Minucci, Angelo; Santonocito, Concetta
CFTR
发表日期：2024
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Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families

FMR1扩增等位基因恢复正常：两个独立的脆性X综合征家族中的罕见事件

期刊:Genes
影响因子:2.8
doi:10.3390/genes11030248
Tabolacci, Elisabetta; Pietrobono, Roberta; Maneri, Giulia; Remondini, Laura; Nobile, Veronica; Della Monica, Matteo; Pomponi, Maria Grazia; Genuardi, Maurizio; Neri, Giovanni; Chiurazzi, Pietro
发表日期：2020
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