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

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

由回文序列介导的16p13.3三倍体可导致一种可识别的神经退行性疾病,并伴有共济失调。

Fasham, James; Rankin, Julia; Schot, Rachel; White, Susan M; Bell, Katrina M; Wakeling, Matthew N; Mallin, Lucy J; Shah, Alex; de Silva, Michelle G; Francis, David I; Walsh, Maie; Jones, Emily E; Vijayakumar, Kayal; Johnson, Katie; Sansbury, Francis H; Te Water Naudé, Johann; Giunti, Paola; Hadjivassiliou, Marios; Nemeth, Andrea H; Tofaris, George K; Rinaldi, Carlo; Banos-Pinero, Benito; Selikhva, Marianna; Ubeyratna, Nishanka; Kievit, Anneke; Sleutels, Frank; van Giessen, Joey; Barakat, Tahsin Stefan; Hall, Timothy S; Whone, Alan; Thomas, Eleanor; Leslie, Joseph S; Bamford, Rosemary A; Jeffries, Aaron R; Lord, Jenny; Walker, Susan; van Ham, Tjakko J; Hill, Sue L; McGavin, Lucy; Parrish, Andrew; Crosby, Andrew H; Baple, Emma L; Pagnamenta, Alistair T

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

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools

对潜在剪接变体进行常规的基于RNA的分析有助于基因组诊断,并揭示计算机预测工具的局限性。

Drost, Mark; Dekker, Jordy; Ferraro, Federico; Kasteleijn, Esmee; Verschuren, Marije; Kroon, Evelien; Douben, Hannie C W; Vogt, Inte; van Unen, Leontine; Hoogeveen-Westerveld, Marianne; Elfferich, Peter; Schot, Rachel; Calandrini, Camilla; Korpershoek, Esther; Sleutels, Frank; Brüggenwirth, Hennie B R; Hollink, Iris R; Meerstein-Kessel, Lisette; Hoefsloot, Lies H; van Slegtenhorst, Marjon; Wilke, Martina; Weerts, Marjolein J A; van Minkelen, Rick; Wagner, Anja; Bouman, Arjan; van Paassen, Barbara W; Verheijen-Mancini, Grazia M; van de Laar, Ingrid M B H; Kievit, Anneke J A; Verhagen, Judith M A; Stuurman, Kyra E; Donker Kaat, Laura; van Dooren, Marieke F; Wessels, Marja W; Oldenburg, Rogier A; Zeidler, Shimriet; van Dijk, Tessa; Barakat, Tahsin Stefan; Verhoeven, Virginie J M; van Bever, Yolande; van Ierland, Yvette; Bannink, Natalja; van Koningsbruggen, Silvana; Lakeman, Phillis; Leeuwen, Lisette; Verbeek, Nienke E; Sinnema, Margje; Heijligers, Malou; van Asperen, Christi J; Saris, Jasper J; Nellist, Mark; van Ham, Tjakko J

Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome

长读长DNA和RNA测序揭示了TCOF1基因内含子中插入逆转录转座子是导致特雷彻·柯林斯综合征的原因。

Ferraro, Federico; Kühn, Nikolas; Rots, Dmitrijs; van der Linde, Herma C; Mohseni, Banin; van Unen, Leontine; Drost, Mark; Nellist, Mark; Koekkoek, Marieke; Schot, Rachel; de Gier, Henriette W; Pleumeekers, Mieke; Barakat, Tahsin Stefan; Kleefstra, Tjitske; Weerts, Marjolein; van Dooren, Marieke F; van Ham, Tjakko J

Sigma B regulated motility and chemotaxis in Bacillus cereus

Sigma B 调控蜡样芽孢杆菌的运动性和趋化性

Huijboom, Linda; Tempelaars, Marcel; Boeren, Sjef; van der Linden, Erik; Habibi, Mehdi; Shaebani, Reza; Abee, Tjakko

Mechanistic Insights into the Membrane Permeabilization Activity of Antimicrobial Prenylated Isoflavonoids: A Comparative Study of Glabridin, Wighteone, and Lupiwighteone

抗菌异黄酮类化合物膜通透性作用机制研究:光甘草定、维特酮和羽扇豆维特酮的比较研究

Bombelli, Alberto; Calligari, Paolo; Bocchinfuso, Gianfranco; Vincken, Jean-Paul; Abee, Tjakko; den Besten, Heidy M W; Stella, Lorenzo; Araya-Cloutier, Carla

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

POC5基因的双等位基因功能缺失变异会导致视网膜、内分泌和神经肌肉纤毛病综合征。

Vulto-van Silfhout, Anneke T; Jazet, Ingrid M; Yzer, Suzanne; Pas, Jeroen; Demirdas, Serwet; van Rossum, Elisabeth F C; Thiadens, Alberta A H J; van Beek, Ronald; Haer-Wigman, Lonneke; Barge-Schaapveld, Daniela Q C M; Brasch-Andersen, Charlotte; Frost, Simon; Bauwens, Miriam; De Baere, Elfride; Balikova, Irina; Van den Broeck, Filip; Weisz-Hubshman, Monika; Joset, Pascal; Miny, Peter; Filges, Isabel; Kohl, Susanne; De Angeli, Pietro; Kühlewein, Laura; Bodenbender, Jan-Philipp; Haack, Tobias; Poths, Karin; Fernandez-Caballero, Lidia; Corton, Marta; Blanco Kelly, Fiona; Ayuso, Carmen; Martínez-Esteban, Peggy; Vissing, John; Díaz-Manera, Jordi; Straub, Volker; Töpf, Ana; Lin, Siying; Arno, Gavin; Macken, William L; Spillane, Jennifer; Ramachandran, Radha; de Vrieze, Erik; van Ham, Tjakko; Roosing, Susanne; Oud, Machteld M

Characterization of Extracellular Vesicles from Streptococcus thermophilus 065 and Their Potential to Modulate the Immune Response.

嗜热链球菌 065 细胞外囊泡的特性及其调节免疫反应的潜力

Ortiz Camargo Angela Rocio, van Mastrigt Oscar, Gouw Joost W, Liu Yue, Bongers Roger S, van Bergenhenegouwen Jeroen, Knol Jan, Abee Tjakko, Smid Eddy J

Alkaline pH-Driven Metabolic Plasticity of Lactococcus lactis FM03

乳酸乳球菌FM03的碱性pH驱动代谢可塑性

Bendig, Tamara A L; Abee, Tjakko; Boeren, Sjef; Smid, Eddy J; van Mastrigt, Oscar

The non-canonical thioreductase Tmx2b is essential for neuronal survival during zebrafish embryonic brain development

非经典硫还原酶Tmx2b对于斑马鱼胚胎脑发育过程中神经元的存活至关重要

Dekker, Jordy; Lam, Wendy; van der Linde, Herma C; Ophorst, Floris; de Konink, Charlotte; Schot, Rachel; Kremers, Gert-Jan; Sanderson, Leslie E; Berdowski, Woutje M; van Woerden, Geeske M; Mancini, Grazia M S; van Ham, Tjakko J