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
文献求助 收藏

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
文献求助 收藏

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
文献求助 收藏

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
文献求助 收藏

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
文献求助 收藏

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
文献求助 收藏

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
文献求助 收藏

A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene

本文报告一例由ETFA基因复合杂合突变引起的轻度多酰基辅酶A脱氢酶缺乏症病例。

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-020-0665-6
Chautard, Robin; Laroche-Raynaud, Cécile; Lia, Anne-Sophie; Chazelas, Pauline; Derouault, Paco; Sturtz, Franck; Baaj, Yasser; Veauville-Merllié, Alice; Acquaviva, Cécile; Favreau, Frédéric; Faye, Pierre-Antoine
发表日期：2020
文献求助 收藏

Two large reciprocal translocations characterized in the disease resistance-rich burmannica genetic group of Musa acuminata

在抗病性强的香蕉属（Musa acuminata）burmannica遗传群中，发现了两个大型相互易位。

期刊:Annals of Botany
影响因子:3.6
doi:10.1093/aob/mcz078
Dupouy, Marion; Baurens, Franc-Christophe; Derouault, Paco; Hervouet, Catherine; Cardi, Céline; Cruaud, Corinne; Istace, Benjamin; Labadie, Karine; Guiougou, Chantal; Toubi, Lyonel; Salmon, Frederic; Mournet, Pierre; Rouard, Mathieu; Yahiaoui, Nabila; Lemainque, Arnaud; Martin, Guillaume; D'Hont, Angélique
发表日期：2019
文献求助 收藏

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient

在一名法国CMTX5患者中发现了一种位于二聚化区域的新型PRPS1变异体p.(Met68Leu)。

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.875
Lerat, Justine; Magdelaine, Corinne; Derouault, Paco; Beauvais-Dzugan, Hélène; Bieth, Eric; Acket, Blandine; Arne-Bes, Marie-Christine; Sturtz, Franck; Lia, Anne-Sophie
发表日期：2019
文献求助 收藏