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

Authors' Reply: Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene

作者回复：利用全外显子组测序数据中的VNtyper检测MUC1基因的致病变异

期刊:Journal of the American Society of Nephrology
影响因子:9.4
doi:10.1681/ASN.0000000575
Bensouna, Ilias; Robert, Thomas; Vanhoye, Xavier; Mesnard, Laurent
MUC1
发表日期：2025
文献求助 收藏

Systematic Screening of Autosomal Dominant Tubulointerstitial Kidney Disease- MUC1 27dupC Pathogenic Variant through Exome Sequencing

通过外显子组测序对常染色体显性遗传性肾小管间质性肾病-MUC1 27dupC致病变异进行系统筛查

期刊:Journal of the American Society of Nephrology
影响因子:9.4
doi:10.1681/ASN.0000000503
Bensouna, Ilias; Robert, Thomas; Vanhoye, Xavier; Dancer, Marine; Raymond, Laure; Delaugère, Pierre; Hilbert, Pascale; Richard, Hugues; Mesnard, Laurent
MUC1
发表日期：2025
文献求助 收藏

Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification

产前导管板畸形复发导致PKHD1变异体重新分类

期刊:Prenatal Diagnosis
影响因子:2.7
doi:10.1002/pd.6896
Abaji, Mario; Nasca, Laurent; Audrezet, Marie-Pierre; Gerard, Bénédicte; Vanhoye, Xavier; Chau, Cécile; D'Ercole, Claude; Levy-Mozziconacci, Annie
发表日期：2025
文献求助 收藏

Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever

长读长测序技术在家族性地中海热常规分子诊断中的应用

期刊:Practical Laboratory Medicine
影响因子:1.3
doi:10.1016/j.plabm.2024.e00423
Vanhoye, X; Mouty, P; Mouty, S; Bargues, N; Couprie, N; Fayolle, E; Géromel, V; Taoudi, M; Raymond, L; Taly, J-F
Sequencing
发表日期：2024
文献求助 收藏

Exome-First Strategy in Adult Patients With CKD: A Cohort Study

针对慢性肾脏病成人患者的外显子组优先策略：一项队列研究

期刊:Kidney International Reports
影响因子:5.7
doi:10.1016/j.ekir.2022.12.007
Doreille, Alice; Lombardi, Yannis; Dancer, Marine; Lamri, Radoslava; Testard, Quentin; Vanhoye, Xavier; Lebre, Anne-Sophie; Garcia, Hugo; Rafat, Cédric; Ouali, Nacera; Luque, Yosu; Izzedine, Hassan; Esteve, Emmanuel; Cez, Alexandre; Petit-Hoang, Camille; François, Hélène; Marchal, Armance; Letavernier, Emmanuel; Frémeaux-Bacchi, Véronique; Boffa, Jean-Jacques; Rondeau, Eric; Raymond, Laure; Mesnard, Laurent
发表日期：2023
文献求助 收藏

Antibacterial Activity and Untargeted Metabolomics Profiling of Acalypha arvensis Poepp

铁苋菜的抗菌活性和非靶向代谢组学分析

期刊:Molecules
影响因子:4.2
doi:10.3390/molecules28237882
Valendy Thesnor, Roland Molinié, Ryland T Giebelhaus, A Paulina de la Mata Espinosa, James J Harynuk, David Bénimélis, Bérénice Vanhoye, Catherine Dunyach-Rémy, Muriel Sylvestre, Yvens Cheremond, Patrick Meffre, Gerardo Cebrián-Torrejón, Zohra Benfodda
代谢
发表日期：2023
文献求助 收藏

APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants

低β脂蛋白血症中的 APOB CRISPR-Cas9 工程：一种用于新型变体功能研究的有前途的工具

期刊:International Journal of Molecular Sciences
影响因子:0.7
doi:10.3390/ijms23084281
Xavier Vanhoye, Alexandre Janin, Amandine Caillaud, Antoine Rimbert, Fabienne Venet, Morgane Gossez, Wieneke Dijk, Oriane Marmontel, Séverine Nony, Charlotte Chatelain, Christine Durand, Pierre Lindenbaum, Jennifer Rieusset, Bertrand Cariou, Philippe Moulin, Mathilde Di Filippo
APOB
发表日期：2022
文献求助 收藏