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

Epigenomic, genomic, and transcriptomic landscape of schwannomatosis

神经鞘瘤病的表观基因组学、基因组学和转录组学图谱

期刊:Acta Neuropathologica
影响因子:9.3
doi:10.1007/s00401-020-02230-x
Mansouri, Sheila; Suppiah, Suganth; Mamatjan, Yasin; Paganini, Irene; Liu, Jeffrey C; Karimi, Shirin; Patil, Vikas; Nassiri, Farshad; Singh, Olivia; Sundaravadanam, Yogi; Rath, Prisni; Sestini, Roberta; Gensini, Francesca; Agnihotri, Sameer; Blakeley, Jaishri; Ostrow, Kimberly; Largaespada, David; Plotkin, Scott R; Stemmer-Rachamimov, Anat; Ferrer, Marcela Maria; Pugh, Trevor J; Aldape, Kenneth D; Papi, Laura; Zadeh, Gelareh
表观遗传
发表日期：2021
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Correction to: Epigenomic, genomic, and transcriptomic landscape of schwannomatosis

更正：神经鞘瘤病的表观基因组学、基因组学和转录组学图谱

期刊:Acta Neuropathologica
影响因子:9.3
doi:10.1007/s00401-020-02241-8
Mansouri, Sheila; Suppiah, Suganth; Mamatjan, Yasin; Paganini, Irene; Liu, Jeffrey C; Karimi, Shirin; Patil, Vikas; Nassiri, Farshad; Singh, Olivia; Sundaravadanam, Yogi; Rath, Prisni; Sestini, Roberta; Gensini, Francesca; Agnihotri, Sameer; Blakeley, Jaishri; Ostrow, Kimberly; Largaespada, David; Plotkin, Scott R; Stemmer-Rachamimov, Anat; Ferrer, Marcela Maria; Pugh, Trevor J; Aldape, Kenneth D; Papi, Laura; Zadeh, Gelareh
表观遗传
发表日期：2021
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A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria

意大利HGD G360R突变的创始人效应：对区域性尿黑酸症筛查的启示

期刊:JIMD Reports
影响因子:1.8
doi:10.1007/8904_2016_534
Porfirio, Berardino; Sestini, Roberta; Gorelli, Greta; Cordovana, Miriam; Mannoni, Alessandro; Usher, Jeanette L; Introne, Wendy J; Gahl, William A; Vilboux, Thierry
发表日期：2016
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Expanding the mutational spectrum of LZTR1 in schwannomatosis.

扩大神经鞘瘤病中 LZTR1 的突变谱

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2014.220
Paganini Irene, Chang Vivian Y, Capone Gabriele L, Vitte Jeremie, Benelli Matteo, Barbetti Lorenzo, Sestini Roberta, Trevisson Eva, Hulsebos Theo Jm, Giovannini Marco, Nelson Stanley F, Papi Laura
神经科学
发表日期：2015
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A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

利用深度扩增子测序技术系统评估检测体细胞嵌合变异的准确性：以NF2基因为例

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0129099
Contini, Elisa; Paganini, Irene; Sestini, Roberta; Candita, Luisa; Capone, Gabriele Lorenzo; Barbetti, Lorenzo; Falconi, Serena; Frusconi, Sabrina; Giotti, Irene; Giuliani, Costanza; Torricelli, Francesca; Benelli, Matteo; Papi, Laura
Sequencing
细胞生物学
发表日期：2015
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High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene

利用高分辨率熔解曲线分析快速鉴定MUTYH基因中的杂合和纯合序列变化

期刊:BMC Cancer
影响因子:3.4
doi:10.1186/1471-2407-11-305
Tricarico, Rossella; Crucianelli, Francesca; Alvau, Antonio; Orlando, Claudio; Sestini, Roberta; Tonelli, Francesco; Valanzano, Rosa; Genuardi, Maurizio
MUTYH
发表日期：2011
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