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

The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy

首例在感觉性多发性神经病患者中发现的ATL3大片段缺失

期刊:Biomedicines
影响因子:3.9
doi:10.3390/biomedicines11061565
Pyromali, Ioanna; Richard, Laurence; Derouault, Paco; Vallat, Jean-Michel; Ghorab, Karima; Magdelaine, Corinne; Sturtz, Franck; Favreau, Frédéric; Lia, Anne-Sophie
发表日期：2023
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From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene

从阴性诊断到阳性诊断：结构变异可能是您在隐性常染色体基因中寻找的第二个突变

期刊:Journal of Personalized Medicine
影响因子:3
doi:10.3390/jpm12020212
Ioanna Pyromali, Nesrine Benslimane, Frédéric Favreau, Cyril Goizet, Leila Lazaro, Martine Vitry, Paco Derouault, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
信号转导
发表日期：2022
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Distinct B-Cell Specific Transcriptional Contexts of the BCL2 Oncogene Impact Pre-Malignant Development in Mouse Models

BCL2 致癌基因的不同 B 细胞特异性转录背景影响小鼠模型中的癌前发育

期刊:Cancers
影响因子:
doi:10.3390/cancers14215337
Lina Zawil, Tiffany Marchiol, Baptiste Brauge, Alexis Saintamand, Claire Carrion, Elise Dessauge, Christelle Oblet, Sandrine Le Noir, Frédéric Mourcin, Mylène Brousse, Paco Derouault, Mehdi Alizadeh, Yolla El Makhour, Céline Monvoisin, Julien Saint-Vanne, Simon Léonard, Stéphanie Durand-Panteix, Kar
肿瘤
B细胞
Mouse
发表日期：2022
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UnAIDed Class Switching in Activated B-Cells Reveals Intrinsic Features of a Self-Cleaving IgH Locus

活化 B 细胞中未辅助的类别转换揭示了自切割 IgH 基因座的内在特征

期刊:Frontiers in Immunology
影响因子:5.7
doi:10.3389/fimmu.2021.737427
Iman Dalloul, Brice Laffleur, Zeinab Dalloul, Batoul Wehbi, Florence Jouan, Baptiste Brauge, Paco Derouault, Jeanne Moreau, Sven Kracker, Alain Fischer, Anne Durandy, Sandrine Le Noir, Michel Cogné
细胞生物学
B细胞
Goat
IgG Fc
发表日期：2021
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New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software

导致夏科-马里-图斯病的新结构变异：CovCopCan软件检测到的前两个KIF5A大片段缺失

期刊:Computational and Structural Biotechnology Journal
影响因子:4.1
doi:10.1016/j.csbj.2021.07.037
Pyromali, Ioanna; Perani, Alexandre; Nizou, Angélique; Benslimane, Nesrine; Derouault, Paco; Bourthoumieu, Sylvie; Fradin, Mélanie; Sole, Guilhem; Duval, Fanny; Gomes, Constantin; Favreau, Frédéric; Sturtz, Franck; Magdelaine, Corinne; Lia, Anne-Sophie
KIF5A
IF5
发表日期：2021
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Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients

FIG4-p.Ile41Thr纯合子夏科-马里-图斯4J型患者的临床特征

期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.51175
Lafontaine, Maxime; Lia, Anne-Sophie; Bourthoumieu, Sylvie; Beauvais-Dzugan, Hélène; Derouault, Paco; Arné-Bes, Marie-Christine; Sarret, Catherine; Laffargue, Fanny; Magot, Armelle; Sturtz, Franck; Magy, Laurent; Magdelaine, Corinne
发表日期：2021
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A mutation can hide another one: Think Structural Variants!

一种突变可能隐藏另一种突变：想想结构变异！

期刊:Computational and Structural Biotechnology Journal
影响因子:4.1
doi:10.1016/j.csbj.2020.07.021
Miressi, Federica; Faye, Pierre-Antoine; Pyromali, Ioanna; Bourthoumieux, Sylvie; Derouault, Paco; Husson, Marie; Favreau, Frédéric; Sturtz, Franck; Magdelaine, Corinne; Lia, Anne-Sophie
发表日期：2020
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CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer

CovCopCan：一种用于检测遗传性疾病和癌症中扩增子测序数据拷贝数变异的有效工具

期刊:PLoS Computational Biology
影响因子:3.6
doi:10.1371/journal.pcbi.1007503
Derouault, Paco; Chauzeix, Jasmine; Rizzo, David; Miressi, Federica; Magdelaine, Corinne; Bourthoumieu, Sylvie; Durand, Karine; Dzugan, Hélène; Feuillard, Jean; Sturtz, Franck; Mérillou, Stéphane; Lia, Anne-Sophie
肿瘤
肿瘤免疫
发表日期：2020
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One Multilocus Genomic Variation Is Responsible for a Severe Charcot-Marie-Tooth Axonal Form

一种多位点基因组变异是导致严重夏科-马里-图斯轴突型疾病的原因。

期刊:Brain Sciences
影响因子:2.8
doi:10.3390/brainsci10120986
Miressi, Federica; Magdelaine, Corinne; Cintas, Pascal; Bourthoumieux, Sylvie; Nizou, Angélique; Derouault, Paco; Favreau, Frédéric; Sturtz, Franck; Faye, Pierre-Antoine; Lia, Anne-Sophie
发表日期：2020
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Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease

儿童期难治性癫痫：想想脑叶酸缺乏症，一种可治疗的疾病

期刊:Brain Sciences
影响因子:2.8
doi:10.3390/brainsci10110762
Mafi, Sarah; Laroche-Raynaud, Cécile; Chazelas, Pauline; Lia, Anne-Sophie; Derouault, Paco; Sturtz, Franck; Baaj, Yasser; Froget, Rachel; Rio, Marlène; Benoist, Jean-François; Poumeaud, François; Favreau, Frédéric; Faye, Pierre-Antoine
癫痫
神经科学
发表日期：2020
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