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

Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies

靶向长读长cDNA测序揭示了导致视网膜营养不良的新型剪接改变致病变异

期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2025.100442
Capasso, Dalila; Zeuli, Roberta; Arno, Gavin; Kwint, Michael; Timmermans, Raoul; Ruiz-Ceja, Karla A; Karali, Marianthi; Simonelli, Francesca; Signorini, Sabrina; Valente, Enza Maria; Cremers, Frans P M; Banfi, Sandro; Roosing, Susanne; Panneman, Daan M; de Bruijn, Suzanne E
发表日期：2025
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Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients

全基因组测序在遗传学上尚未明确的意大利遗传性视网膜疾病患者中发现了难以捉摸的变异

期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2024.100314
Zeuli, Roberta; Karali, Marianthi; de Bruijn, Suzanne E; Rodenburg, Kim; Scarpato, Margherita; Capasso, Dalila; Astuti, Galuh D N; Gilissen, Christian; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Testa, Francesco; Simonelli, Francesca; Cremers, Frans P M; Banfi, Sandro; Roosing, Susanne
发表日期：2024
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Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data

通过对人类视网膜转录组数据的荟萃分析，定义遗传性视网膜疾病基因的转录单元

期刊:BMC Genomics
影响因子:3.7
doi:10.1186/s12864-023-09300-w
Ruiz-Ceja, Karla Alejandra; Capasso, Dalila; Pinelli, Michele; Del Prete, Eugenio; Carrella, Diego; di Bernardo, Diego; Banfi, Sandro
发表日期：2023
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Association of PARP1 polymorphisms with response to chemotherapy in patients with high-risk neuroblastoma.

PARP1多态性与高危神经母细胞瘤患者化疗反应的相关性

期刊:Journal of Cellular and Molecular Medicine
影响因子:4.2
doi:10.1111/jcmm.15058
Avitabile Marianna, Lasorsa Vito Alessandro, Cantalupo Sueva, Cardinale Antonella, Cimmino Flora, Montella Annalaura, Capasso Dalila, Haupt Riccardo, Amoroso Loredana, Garaventa Alberto, Quattrone Alessandro, Corrias Maria Valeria, Iolascon Achille, Capasso Mario
神经科学
细胞生物学
发表日期：2020
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