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

A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11 : A Case Report and Literature Review

一种复杂的神经发育表型，类似于染色质病变，伴有7p重复和10p缺失，涉及ZMYND11基因：病例报告及文献综述

期刊:European Heart Journal
影响因子:35.6
doi:10.1093/eurheartj/ehp194
Tolosana, Jose M; Berne, Paola; Mont, Lluis; Heras, Magda; Berruezo, Antonio; Monteagudo, Joan; Tamborero, David; Benito, Begoña; Brugada, Josep; Minale, Elia Marco Paolo; Martone, Stefania; Criscuolo, Chiara; Marra, Roberta; Lasorsa, Vito Alessandro; Ruggiero, Raffaella; Suero, Teresa; Capasso, Mario; Andolfo, Immacolata; Iolascon, Achille; Russo, Roberta; Pinelli, Michele
发育与干细胞
神经科学
发表日期：2026
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Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias

SEC23B 和 PIEZO1 中多个遗传变异对遗传性贫血中铁代谢失衡的累加效应

期刊:Hemasphere
影响因子:14.6
doi:10.1002/hem3.70280
Nostroso, Antonella; Marra, Roberta; Rosato, Barbara Eleni; Iscaro, Anthony; Esposito, Federica Maria; D'Onofrio, Vanessa; Dionisi, Manuela; Ribersani, Michela; Giordano, Francesca; Bulla, Anna; Del Vecchio, Giovanni Carlo; Scianguetta, Saverio; Mandrile, Giorgia; Ceglie, Teresa; Scudiero, Olga; Ferrero, Giovanni Battista; Perrotta, Silverio; Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta
ZO1
铁代谢
贫血
代谢
发表日期：2026
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Label-free blood cell separation for space health monitoring using a portable blast cell biochip

利用便携式原始细胞生物芯片进行无标记血细胞分离，用于太空健康监测

期刊:NPJ Microgravity
影响因子:4.1
doi:10.1038/s41526-026-00561-9
Mugnano, Martina; Cerbone, Vincenza; Villone, Massimiliano Maria; Montella, Annalaura; Scalia, Giulia; Capasso, Mario; Iolascon, Achille; Miccio, Lisa; Ferraro, Pietro; Mari, Silvia; Ferranti, Francesca; Maffettone, Pier Luca
细胞生物学
发表日期：2026
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A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review

一种复杂的神经发育表型，类似于染色质病变，伴有7p重复和10p缺失，涉及ZMYND11基因：病例报告及文献综述

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.70164
Minale, Elia Marco Paolo; Martone, Stefania; Criscuolo, Chiara; Marra, Roberta; Lasorsa, Vito Alessandro; Ruggiero, Raffaella; Suero, Teresa; Capasso, Mario; Andolfo, Immacolata; Iolascon, Achille; Russo, Roberta; Pinelli, Michele
发育与干细胞
神经科学
发表日期：2026
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CTpredX: Enhancing missense variant pathogenicity prediction in childhood cancer predisposition genes

CTpredX：增强儿童癌症易感基因错义变异致病性预测

期刊:Genes and Diseases
影响因子:
doi:10.1016/j.gendis.2025.101661
Bonfiglio, Ferdinando; Lasorsa, Vito Alessandro; Pirozzi, Giampiero; Iolascon, Achille; Capasso, Mario
肿瘤
肿瘤免疫
发表日期：2026
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Selecting patients with sickle cell disease for gene addition or gene editing-based therapeutic approaches: Report on behalf of a joint EHA Specialized Working Group and EBMT Hemoglobinopathies Working Party consensus conference

选择镰状细胞病患者进行基因添加或基因编辑治疗：欧洲血液学协会 (EHA) 专业工作组和欧洲骨髓移植协会 (EBMT) 血红蛋白病工作组联合共识会议报告

期刊:Hemasphere
影响因子:14.6
doi:10.1002/hem3.70089
de Franceschi, Lucia; Locatelli, Franco; Rees, David; Chabannon, Christian; Dalle, Jean-Hugues; Rivella, Stefano; Iolascon, Achille; Lobitz, Stephan; Abboud, Miguel R; de la Fuente, Josu; Flevari, Pagona; Angelucci, Emanuele; de Montalembert, Mariane
细胞生物学
发表日期：2025
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The Non-Coding Regulatory Variant rs2863002 at chr11p11.2 Increases Neuroblastoma Risk by Affecting HSD17B12 Expression and Lipid Metabolism.

位于 chr11p11.2 的非编码调控变异 rs2863002 通过影响 HSD17B12 表达和脂质代谢来增加神经母细胞瘤的风险

期刊:Advanced Science
影响因子:14.1
doi:10.1002/advs.202415181
Maiorino Teresa, Avitabile Marianna, Aievola Vincenzo, Montella Annalaura, Lasorsa Vito A, Bonfiglio Ferdinando, Cantalupo Mariagrazia, Cantalupo Sueva, Estinto Gilda, Tirelli Matilde, Morini Martina, Ardito Martina, Eva Alessandra, Cerbone Vincenza, Mauriello Lucia, Caterino Marianna, Ruoppolo Margherita, Maris John M, Diskin Sharon J, Iolascon Achille, Capasso Mario
代谢
神经科学
细胞生物学
发表日期：2025
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Mitapivat metabolically reprograms human β-thalassemic erythroblasts, increasing their responsiveness to oxidation

Mitapivat 可代谢性地重编程人类β-地中海贫血红细胞，增强其对氧化反应的敏感性。

期刊:Blood Advances
影响因子:7.1
doi:10.1182/bloodadvances.2024013591
Siciliano, Angela; D'Alessandro, Angelo; Matte, Alessandro; Bisello, Giovanni; Bertoldi, Mariarita; Dzieciatkowska, Monika; Argabright, Amy; Pozzetto, Richard Huot; Riccardi, Veronica; Mattarei, Andrea; Ongaro, Alberto; Ceolan, Jacopo; Russo, Roberta; Rivadeneyra, Leonardo; Wind-Rotolo, Megan; Iolascon, Achille; Brugnara, Carlo; De Franceschi, Lucia
细胞生物学
红细胞
贫血
代谢
发表日期：2025
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Regulatory non-coding somatic mutations as drivers of neuroblastoma

非编码调控性体细胞突变是神经母细胞瘤的驱动因素

期刊:British Journal of Cancer
影响因子:6.8
doi:10.1038/s41416-025-02939-0
Montella, Annalaura; Tirelli, Matilde; Lasorsa, Vito Alessandro; Aievola, Vincenzo; Cerbone, Vincenza; Manganiello, Rosa; Iolascon, Achille; Capasso, Mario
信号转导
细胞生物学
发表日期：2025
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Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy

VPS13A缺陷导致的骨骼肌过早衰老与自噬功能受损有关

期刊:Acta Neuropathologica Communications
影响因子:5.7
doi:10.1186/s40478-025-01997-y
Riccardi, Veronica; Viscomi, Carlo Fiore; Sandri, Marco; D'Alessandro, Angelo; Dzieciatkowska, Monika; Stephenson, Daniel; Federti, Enrica; Hermann, Andreas; Salviati, Leonardo; Siciliano, Angela; Andolfo, Immacolata; Alper, Seth L; Ceolan, Jacopo; Iolascon, Achille; Vattemi, Gaetano; Danek, Adrian; Walker, Ruth H; Mensch, Alexander; Otto, Markus; Deschauer, Marcus; Armbrust, Moritz; Beninca', Cristiane; Salari, Valentina; Fabene, Paolo; Peikert, Kevin; De Franceschi, Lucia
衰老
自噬
发表日期：2025
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