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

The proprotein convertase FURIN is a novel aneurysm predisposition gene impairing TGF-β signalling.

前蛋白转化酶 FURIN 是一种新型动脉瘤易感基因,可损害 TGF-β 信号传导

He Zongsheng, IJpma Arne S, Vreeken Dianne, Heijsman Daphne, Rosier Karen, Verhagen Hence J M, de Bruin Jorg L, Brüggenwirth Hennie T, Roos-Hesselink Jolien W, Bekkers Jos A, Huylebroeck Danny F E, van Beusekom Heleen M M, Creemers John W M, Majoor-Krakauer Danielle

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

旋转蛋白细胞动力学反映出异质性临床表型和脑畸形

Vandervore, Laura V; Schot, Rachel; Kasteleijn, Esmee; Oegema, Renske; Stouffs, Katrien; Gheldof, Alexander; Grochowska, Martyna M; van der Sterre, Marianne L T; van Unen, Leontine M A; Wilke, Martina; Elfferich, Peter; van der Spek, Peter J; Heijsman, Daphne; Grandone, Anna; Demmers, Jeroen A A; Dekkers, Dick H W; Slotman, Johan A; Kremers, Gert-Jan; Schaaf, Gerben J; Masius, Roy G; van Essen, Anton J; Rump, Patrick; van Haeringen, Arie; Peeters, Els; Altunoglu, Umut; Kalayci, Tugba; Poot, Raymond A; Dobyns, William B; Bahi-Buisson, Nadia; Verheijen, Frans W; Jansen, Anna C; Mancini, Grazia M S

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy

非致密性心肌病基因型-表型相关性的系统评价

van Waning, Jaap I; Moesker, Joost; Heijsman, Daphne; Boersma, Eric; Majoor-Krakauer, Danielle

Tumor-specific mutations in low-frequency genes affect their functional properties

低频基因的肿瘤特异性突变会影响其功能特性。

Erdem-Eraslan, Lale; Heijsman, Daphne; de Wit, Maurice; Kremer, Andreas; Sacchetti, Andrea; van der Spek, Peter J; Sillevis Smitt, Peter A E; French, Pim J

Pollitt syndrome patients carry mutation in TTDN1

Pollitt综合征患者携带TTDN1基因突变

Swagemakers, Sigrid M A; Jaspers, Nicolaas G J; Raams, Anja; Heijsman, Daphne; Vermeulen, Wim; Troelstra, Christine; Kremer, Andreas; Lincoln, Stephen E; Tearle, Rick; Hoeijmakers, Jan H J; van der Spek, Peter J

Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection

Huvariome:一个提供全基因组二代测序等位基因频率的网络服务器资源,用于辅助病理候选基因的选择。

Stubbs, Andrew; McClellan, Elizabeth A; Horsman, Sebastiaan; Hiltemann, Saskia D; Palli, Ivo; Nouwens, Stephan; Koning, Anton Hj; Hoogland, Frits; Reumers, Joke; Heijsman, Daphne; Swagemakers, Sigrid; Kremer, Andreas; Meijerink, Jules; Lambrechts, Diether; van der Spek, Peter J