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

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

纳米孔长读长测序技术可帮助危重病人实现超快速诊断和紧急临床决策。

Smits, Daphne J; Ferraro, Federico; Drost, Mark; van der Linde, Herma C; de Graaf, Bianca M; van Bever, Yolande; Brooks, Alice S; Bardina, Livija; Brüggenwirth, Hennie T; Debuy, Christophe; Donker Kaat, Laura; van Dijk, Bastiaan T; van Engelen, Nienke; Geeven, Geert; van de Graaf, Raoul; van Haaften-Visser, Désirée Y; van Hasselt, Peter M; Heijsman, Daphne; Hendriks, Yvonne M C; Hitti-Malin, Rebekkah J; Hoefsloot, Lies H; Huijbregts, Glenn; IJspeert, Hanna; Lamballais, Sander; Mijalkovic, Jona; Mol, Merel O; Nawawi, Diënna; Nederpelt, Nadine; Nibbeling, Esther A R; Te Rijdt, Wouter; Schot, Rachel; van Slegtenhorst, Marjon; Sleutels, Frank; Ulenkate, Eva L M; Van Veghel-Plandsoen, Monique; Verhagen, Judith M A; Vos, David; Wauters, Erwin; Wilke, Martina; Sylva, Marc; Barakat, Tahsin Stefan; van Ham, Tjakko J; Kleefstra, Tjitske; Rots, Dmitrijs; Verhoeven, Virginie J M

Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing

利用无创胎儿非整倍体检测生成的数据,早期发现孕妇体内活动性人巨细胞病毒 (hCMV) 感染

Faas, Brigitte H W; Astuti, Galuh; Melchers, Willem J G; Reuss, Annette; Gilissen, Christian; Macville, Merryn V E; Ghesquiere, Stijn A I; Houben, Leonieke M H; Srebniak, Malgorzata Ilona; Geeven, Geert; Rahamat-Langendoen, Janette C; Sistermans, Erik A; Linthorst, Jasper

Evaluation of Circulating Tumor DNA as a Liquid Biomarker in Uveal Melanoma

评估循环肿瘤DNA作为葡萄膜黑色素瘤液体生物标志物的价值

de Bruyn, Daniel P; van Poppelen, Natasha M; Brands, Tom; van den Boom, Susanne C; Eikenboom, Ellis; Wagner, Anja; van Veghel-Plandsoen, Monique M; Geeven, Geert; Beverloo, Berna; van Rij, Caroline M; Verdijk, Robert M; Naus, Nicole C; Bagger, Mette M; Kiilgaard, Jens F; de Klein, Annelies; Brosens, Erwin; Kiliç, Emine

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

AMFR功能障碍会导致人类常染色体隐性遗传性痉挛性截瘫,在临床前模型中,他汀类药物治疗有效。

Deng, Ruizhi; Medico-Salsench, Eva; Nikoncuk, Anita; Ramakrishnan, Reshmi; Lanko, Kristina; Kühn, Nikolas A; van der Linde, Herma C; Lor-Zade, Sarah; Albuainain, Fatimah; Shi, Yuwei; Yousefi, Soheil; Capo, Ivan; van den Herik, Evita Medici; van Slegtenhorst, Marjon; van Minkelen, Rick; Geeven, Geert; Mulder, Monique T; Ruijter, George J G; Lütjohann, Dieter; Jacobs, Edwin H; Houlden, Henry; Pagnamenta, Alistair T; Metcalfe, Kay; Jackson, Adam; Banka, Siddharth; De Simone, Lenika; Schwaede, Abigail; Kuntz, Nancy; Palculict, Timothy Blake; Abbas, Safdar; Umair, Muhammad; AlMuhaizea, Mohammed; Colak, Dilek; AlQudairy, Hanan; Alsagob, Maysoon; Pereira, Catarina; Trunzo, Roberta; Karageorgou, Vasiliki; Bertoli-Avella, Aida M; Bauer, Peter; Bouman, Arjan; Hoefsloot, Lies H; van Ham, Tjakko J; Issa, Mahmoud; Zaki, Maha S; Gleeson, Joseph G; Willemsen, Rob; Kaya, Namik; Arold, Stefan T; Maroofian, Reza; Sanderson, Leslie E; Barakat, Tahsin Stefan

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

使用 RNA-seq 识别致病转录本的网络可访问应用程序:提高神经发育障碍诊断的灵敏度

Jordy Dekker, Rachel Schot, Michiel Bongaerts, Walter G de Valk, Monique M van Veghel-Plandsoen, Kathryn Monfils, Hannie Douben, Peter Elfferich, Esmee Kasteleijn, Leontine M A van Unen, Geert Geeven, Jasper J Saris, Yvette van Ierland, Frans W Verheijen, Marianne L T van der Sterre, Farah Sadeghi N

Pyruvate metabolism controls chromatin remodeling during CD4+ T cell activation

丙酮酸代谢控制 CD4+ T 细胞活化过程中染色质重塑

Enric Mocholi, Laura Russo, Keshav Gopal, Andrew G Ramstead, Sophia M Hochrein, Harmjan R Vos, Geert Geeven, Adeolu O Adegoke, Anna Hoekstra, Robert M van Es, Jose Ramos Pittol, Sebastian Vastert, Jared Rutter, Timothy Radstake, Jorg van Loosdregt, Celia Berkers, Michal Mokry, Colin C Anderson, Ryan

Hominin-specific regulatory elements selectively emerged in oligodendrocytes and are disrupted in autism patients

人类特异性调控元件选择性地出现在少突胶质细胞中,并在自闭症患者中被破坏

Bas Castelijns, Mirna L Baak, Ilia S Timpanaro, Caroline R M Wiggers, Marit W Vermunt, Peng Shang, Ivanela Kondova, Geert Geeven, Valerio Bianchi, Wouter de Laat, Niels Geijsen, Menno P Creyghton

Epigenetic Analyses of Human Left Atrial Tissue Identifies Gene Networks Underlying Atrial Fibrillation

人类左心房组织的表观遗传学分析揭示了心房颤动背后的基因网络

Hall, Amelia Weber; Chaffin, Mark; Roselli, Carolina; Lin, Honghuang; Lubitz, Steven A; Bianchi, Valerio; Geeven, Geert; Bedi, Kenneth; Margulies, Kenneth B; de Laat, Wouter; Tucker, Nathan R; Ellinor, Patrick T

Bayesian mixture regression analysis for regulation of Pluripotency in ES cells

贝叶斯混合回归分析在胚胎干细胞多能性调控中的应用

Aflakparast, Mehran; Geeven, Geert; de Gunst, Mathisca C M

Chromatin Conformation Links Putative Enhancers in Intracranial Aneurysm-Associated Regions to Potential Candidate Genes

染色质构象将颅内动脉瘤相关区域中的假定增强子与潜在候选基因联系起来

Laarman, Melanie D; Geeven, Geert; Barnett, Phil; Rinkel, Gabriël J E; de Laat, Wouter; Ruigrok, Ynte M; Bakkers, Jeroen