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

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1

利用整合基因组学和转录组学工作流程解析非编码剪接改变变异：以FOXP1为例

期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-026-00946-7
Planté-Bordeneuve, Pauline; Jourdain, Anne-Sophie; Thuillier, Caroline; Caux, Aurélien; Tessarech, Marine; Meneboo, Jean-Pascal; Ait-Yahya, Emilie; Costantini, Sara; Brunelle, Perrine; Smol, Thomas
FOXP1
发表日期：2026
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New CT-based dural ectasia criteria using machine learning to diagnose Marfan and Loeys-Dietz syndromes

利用机器学习技术，基于CT的新型硬脑膜扩张诊断标准可用于诊断马凡综合征和洛伊斯-迪茨综合征

期刊:
影响因子:
doi:10.1093/ehjimp/qyag051
Bouleti, Claire; Thuillier, Raphael; Moeuf, Yoann; Suc, Gaspard; Gouya, Laurent; Arnoult, Florence; Tence, Noemie; Nicot, Florence; Alos, Benjamin; Gouysse, Margaux; Milleron, Olivier; Ou, Phalla; Glatt, Nicolas; Tchitchinadze, Maria; Steg, Philippe Gabriel; Jondeau, Guillaume
神经科学
发表日期：2026
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Beyond RNA modification: a novel role for tRNA modifying enzyme in oxidative stress response and metabolism

RNA修饰之外：tRNA修饰酶在氧化应激反应和代谢中的新作用

期刊:Nucleic Acids Research
影响因子:13.1
doi:10.1093/nar/gkaf1276
Fruchard, Louna; Sudol, Claudia; Rouard, Caroline; Treffkorn-Maurau, Aurore; Hardy, Léo; Bos, Julia; Duchateau, Magalie; Giai Gianetto, Quentin; Matondo, Mariette; Bonhomme, Frédéric; Thuillier, Quentin; Marchand, Virginie; Motorin, Yuri; Bregeon, Damien; Mazel, Didier; Hamdane, Djemel; Baharoglu, Zeynep
氧化应激
毒理研究
代谢
发表日期：2025
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Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms

癫痫中复发性FGF12重复的长读长测序：对结构机制和异常异构体的深入了解

期刊:Epilepsia
影响因子:6.6
doi:10.1111/epi.18609
Fauqueux, Jade; Chaton, Laurence; Cleuziou, Pierre; Diependaële, Anne-Sophie; Bach, Nathalie; Gruchy, Nicolas; Gerard, Marion; Meneboo, Jean-Pascal; Villenet, Céline; Figeac, Martin; Ait-Yahya, Emilie; Thuillier, Caroline; Boudry, Elise; Trauffler, Adeline; Nguyen-The-Tich, Sylvie; Boussion, Simon; Caumes, Roseline; Ghoumid, Jamal; Smol, Thomas
FGF1
癫痫
神经科学
发表日期：2025
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Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variations leading to copy gains.

结合长读长DNA和RNA测序，以增强对导致拷贝数增加的结构变异的分子理解

期刊:Computational and Structural Biotechnology Journal
影响因子:4.1
doi:10.1016/j.csbj.2025.04.031
Fauqueux Jade, Meneboo Jean-Pascal, Caumes Roseline, Thomès Luc, Yahya Emilie Ait, Thuillier Caroline, Boudry Elise, Villenet Celine, Figeac Martin, Ghoumid Jamal, Smol Thomas
发表日期：2025
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The tRNA epitranscriptomic landscape and RNA modification enzymes in Vibrio cholerae

霍乱弧菌中tRNA表观转录组图谱和RNA修饰酶

期刊:PLoS Genetics
影响因子:3.7
doi:10.1371/journal.pgen.1011937
Hardy, Léo; Marchand, Virginie; Bourguignon, Valérie; Thuillier, Quentin; Dias, Cathy; Krin, Evelyne; Fruchard, Louna; Yaacov, Dan Bar; Mazel, Didier; Motorin, Yuri; Baharoglu, Zeynep
微生物学
表观遗传
霍乱
发表日期：2025
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MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes

MED13L致病性错义变异会损害蛋白质稳定性和相互作用，从而导致多种临床结果。

期刊:HGG Advances
影响因子:3.3
doi:10.1016/j.xhgg.2025.100467
Thomas Smol ,Frédéric Frenois ,Morgane Billotte ,Roseline Caumes ,Leonie A Menke ,Amara Nassar-Sheikh Rashid ,Caroline Thuillier ,Didier Monté ,Florence Petit ,Alexis Verger ,Jamal Ghoumid
MED1
发表日期：2025
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Modeling of a population-based input function (PBIF) using the Feng model in dynamic ⁶⁸Ga-DOTATOC whole body PET/CT scans: feasibility of shortened imaging protocols on PET/CT Vision 600 system (®)

在动态⁶⁸Ga-DOTATOC全身PET/CT扫描中使用Feng模型对基于人群的输入函数（PBIF）进行建模：PET/CT Vision 600系统（®）上缩短成像方案的可行性

期刊:Ejnmmi Physics
影响因子:3.2
doi:10.1186/s40658-025-00773-0
Godefroy, Thomas; Pavoine, Mathieu; Bourhis, David; Le Pennec, Romain; Kerleguer, Kevin; Floch, Romain; Salaün, Pierre-Yves; Karakatsanis, Nicolas; Thuillier, Philippe; Abgral, Ronan
发表日期：2025
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Perinatal impacts of fetal growth velocity on small-for-gestational-age fetuses: A retrospective cohort study in a tertiary center

胎儿生长速度对小于胎龄儿围产期影响：一项三级中心回顾性队列研究

期刊:Acta Obstetricia et Gynecologica Scandinavica
影响因子:3.1
doi:10.1111/aogs.70035
Prats, Charlotte; Chesnais, Marion; Thuillier, Claire; Boucherie, Anne-Sophie; Francois, Juliette; Berveiller, Paul; Quibel, Thibaud
发表日期：2025
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Risk of preterm delivery in women with a history of preterm labor successfully arrested by tocolytic treatment in their previous pregnancy

既往妊娠期曾因宫缩抑制剂治疗成功阻止早产的妇女，仍有早产风险。

期刊:Acta Obstetricia et Gynecologica Scandinavica
影响因子:3.1
doi:10.1111/aogs.70054
Quibel, Thibaud; Rousseau, Anne; Thuillier, Claire; Ruiz, Mireille; Rozenberg, Patrick
发表日期：2025
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