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

Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review

努南综合征及其他RAS病临床和分子特征的最新进展：一项回顾性研究和系统评价

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26083515
Reynolds, Giuseppe; Gazzin, Andrea; Carli, Diana; Massuras, Stefania; Cardaropoli, Simona; Luca, Maria; Defilippi, Beatrice; Tartaglia, Marco; Ferrero, Giovanni Battista; Mussa, Alessandro
RAS
发表日期：2025
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Clinical and Radiological Evaluation of a Fully Tapered Implant Design Following Immediate Placement with Immediate Provisionalization in the Esthetic Area: A Prospective Case Series Study

美学区即刻植入即刻临时修复后全锥形种植体设计的临床和放射学评估：一项前瞻性病例系列研究

期刊:Dentistry Journal
影响因子:3.1
doi:10.3390/dj13110529
Cardaropoli, Daniele; Tamagnone, Lorenzo; Roffredo, Alessandro; Gaveglio, Lorena; García Huerta, Alfonso Alejandro
发表日期：2025
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Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome

SATB2相关综合征的临床和遗传图谱不断扩展

期刊:Genes
影响因子:2.8
doi:10.3390/genes16101229
Pullano, Verdiana; Rondot, Federico; Carelli, Ilaria; Trajkova, Slavica; Carestiato, Silvia; Cardaropoli, Simona; Carli, Diana; Biamino, Elisa; Sirchia, Fabio; Reynolds, Giuseppe; Keller, Roberto; Shukarova-Angelovska, Elena; Ferrero, Giovanni Battista; Brusco, Alfredo; Mussa, Alessandro
发表日期：2025
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Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations

EP300基因第20外显子跳跃：一种与鲁宾斯坦-泰比综合征相关的新型变异，具有非典型和严重的临床表现

期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14654
Pavinato, Lisa; Carestiato, Silvia; Trajkova, Slavica; Sorasio, Lorena; Mantovani, Giovanna; De Sanctis, Luisa; Kerkhof, Jennifer; McConkey, Haley; Rzasa, Jessica; Todd, Emily; Balzo, Maria; Cardaropoli, Simona; Bruselles, Alessandro; De Rubeis, Silvia; Buxbaum, Joseph D; Tartaglia, Marco; Sadikovic, Bekim; Ferrero, Giovanni Battista; Brusco, Alfredo
EP300
P300
发表日期：2025
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Quantification of Lateralized Overgrowth and Genotype-Driven Tissue Composition

侧向过度生长和基因型驱动的组织组成的定量分析

期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14713
Gazzin, Andrea; Reynolds, Giuseppe; Allegro, Damiano; Rossi, Davide; Sciandra, Francesca; Afkhami, Hirad Akberi; Cardaropoli, Simona; Piglionica, Marilidia; Resta, Nicoletta; Di Stefano, Marco; Mussa, Alessandro
发表日期：2025
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Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant

明确携带 RAF1:c.770C>T p.(Ser257Leu) 变异的 Noonan 综合征患者的变异-表型相关性

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01643-6
Gazzin, Andrea; Fornari, Federico; Niceta, Marcello; Leoni, Chiara; Dentici, Maria Lisa; Carli, Diana; Villar, Anna Maria; Calcagni, Giulio; Banaudi, Elena; Massuras, Stefania; Cardaropoli, Simona; Airulo, Elena; Daniele, Paola; Monda, Emanuele; Limongelli, Giuseppe; Riggi, Chiara; Zampino, Giuseppe; Digilio, Maria Cristina; De Luca, Alessandro; Tartaglia, Marco; Ferrero, Giovanni Battista; Mussa, Alessandro
RAF1
发表日期：2024
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Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann Spectrum

Beckwith-Wiedemann 综合征谱系中肾上腺皮质肿瘤的分子和临床特征

期刊:Cancers
影响因子:4.4
doi:10.3390/cancers16233967
Carli, Diana; Rondot, Federico; Luca, Maria; Campello, Anna; Vallero, Stefano Gabriele; Tirtei, Elisa; Gazzin, Andrea; Cardaropoli, Simona; Montanari, Francesca; Graziano, Claudio; Quarello, Paola; Saadat, Abu; Sparago, Angela; Ferrero, Giovanni Battista; Fagioli, Franca; Mussa, Alessandro
肿瘤
肿瘤免疫
免疫/内分泌
发表日期：2024
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DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity

对神经发育障碍患者进行DNA甲基化分析，可以提高变异解读的准确性并揭示其复杂性。

期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2024.100309
Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo
发育与干细胞
表观遗传
神经科学
DNA甲基化
发表日期：2024
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Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib

探索MEK抑制剂在RAS病中的新药再利用机会：曲美替尼和司鲁美替尼的安全性、有效性和未来展望的综合综述

期刊:Life-Basel
影响因子:3.4
doi:10.3390/life14060731
Gazzin, Andrea; Fornari, Federico; Cardaropoli, Simona; Carli, Diana; Tartaglia, Marco; Ferrero, Giovanni Battista; Mussa, Alessandro
RAS
发表日期：2024
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Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)

Pik3ca相关过度生长谱系疾病的流行病学（Pros）

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-023-01414-9
Reynolds, Giuseppe; Cardaropoli, Simona; Carli, Diana; Luca, Maria; Gazzin, Andrea; Coppo, Paola; La Selva, Roberta; Piglionica, Marilidia; Bagnulo, Rosanna; Turchiano, Antonella; Ranieri, Carlotta; Resta, Nicoletta; Mussa, Alessandro
发表日期：2023
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