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

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.

COX18 的双等位基因变异会导致线粒体疾病，主要表现为周围神经病变。

期刊:Brain
影响因子:11.7
doi:10.1093/brain/awaf300
Armirola-Ricaurte Camila, Morant Laura, Adant Isabelle, Hamed Sherifa A, Pipis Menelaos, Efthymiou Stephanie, Amor-Barris Silvia, Atkinson Derek, Van de Vondel Liedewei, Tomic Aleksandra, Seneca Sara, de Vriendt Els, Zuchner Stephan, Ghesquiere Bart, Hanna Michael G, Houlden Henry, Lunn Michael P, Reilly Mary M, Milic Rasic Vedrana, Jordanova Albena
神经科学
线粒体
发表日期：2026
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Diagnostic Performance of Commercial Antithrombin Activity Assays: Do We Get What We Expect?

商业抗凝血酶活性检测的诊断性能：我们是否得到了预期的结果？

期刊:Thrombosis and Haemostasis
影响因子:4.3
doi:10.1055/a-2628-4046
Orlando, Christelle; Drèze, Céline; Evenepoel, Anton; Seneca, Sara; Jochmans, Kristin
Enzyme Assay
发表日期：2026
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Vacuolar-type H(+)-ATPase-mediated extra-organellar buffering resolves mitochondrial dysfunction

液泡型H(+)-ATPase介导的细胞器外缓冲作用可解决线粒体功能障碍

期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-025-66656-1
Monteuuis, Geoffray; Awadhpersad, Ryan; van der Kolk, Daan; Singh, Sachin K; Nyman, Tuula A; Malyutina, Alina; Zamboni, Nicola; Moisio, Kari; Juutila, Juhana; Hietakangas, Ville; Seneca, Sara; Carroll, Christopher J; Jackson, Christopher B
细胞生物学
线粒体
发表日期：2025
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Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers

在有胰腺癌和乳腺癌家族史的家族中，RAD17被鉴定为候选癌症易感基因

期刊:BMC Cancer
影响因子:3.4
doi:10.1186/s12885-024-12442-z
Joris, Sofie; Giron, Philippe; Olsen, Catharina; Seneca, Sara; Gheldof, Alexander; Staessens, Shula; Shahi, Rajendra Bahadur; De Brakeleer, Sylvia; Teugels, Erik; De Grève, Jacques; Hes, Frederik J
胰腺癌
肿瘤
肿瘤免疫
乳腺癌
发表日期：2024
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EDIR: exome database of interspersed repeats

EDIR：散在重复序列外显子组数据库

期刊:
影响因子:
doi:10.1093/bioinformatics/btac771
Vo Ngoc, Laura D T; Osei, Randy; Dohr, Katrin; Olsen, Catharina; Seneca, Sara; Gheldof, Alexander
发表日期：2023
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Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

参与针对罕见病的外部质量评估项目的频率：比利时人类遗传学中心指南

期刊:JMIR Medical Informatics
影响因子:3.8
doi:10.2196/27980
Lantoine, Joséphine; Brysse, Anne; Dideberg, Vinciane; Claes, Kathleen; Symoens, Sofie; Coucke, Wim; Benoit, Valérie; Rombout, Sonia; De Rycke, Martine; Seneca, Sara; Van Laer, Lut; Wuyts, Wim; Corveleyn, Anniek; Van Den Bogaert, Kris; Rydlewski, Catherine; Wilkin, Françoise; Ravoet, Marie; Fastré, Elodie; Capron, Arnaud; Vandevelde, Nathalie Monique
Human
发表日期：2021
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Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene

TK2基因纯合c.416C>T突变患者表现出轻度肌病表型

期刊:Acta Myologica
影响因子:
doi:10.36185/2532-1900-012
Papadimas, George K; Vargiami, Efthimia; Dragoumi, Pinelopi; Van Coster, Rudy; Smet, Joel; Seneca, Sara; Papadopoulos, Constantinos; Kararizou, Evangelia; Zafeiriou, Dimitrios
发表日期：2020
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Clinical implementation of gene panel testing for lysosomal storage diseases

溶酶体贮积症基因检测的临床应用

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.527
Gheldof, Alexander; Seneca, Sara; Stouffs, Katrien; Lissens, Willy; Jansen, Anna; Laeremans, Hilde; Verloo, Patrick; Schoonjans, An-Sofie; Meuwissen, Marije; Barca, Diana; Martens, Geert; De Meirleir, Linda
发表日期：2019
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Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT

一名携带MTFMT基因c.626C>T纯合突变的成年人出现莱氏综合征，随后发展为帕金森病。

期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000298
Hemelsoet, Dimitri M; Vanlander, Arnaud V; Smet, Joél; Vantroys, Elise; Acou, Marjan; Goethals, Ingeborg; Sante, Tom; Seneca, Sara; Menten, Bjorn; Van Coster, Rudy
帕金森
神经科学
发表日期：2018
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Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells

对DNA和单细胞中人类线粒体基因组的单核苷酸变异和大片段缺失进行精确而全面的分析

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2017.129
Zambelli, Filippo; Vancampenhout, Kim; Daneels, Dorien; Brown, Daniel; Mertens, Joke; Van Dooren, Sonia; Caljon, Ben; Gianaroli, Luca; Sermon, Karen; Voet, Thierry; Seneca, Sara; Spits, Claudia
细胞生物学
线粒体
单细胞
发表日期：2017
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