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

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足的脑白质营养不良伴癫痫性脑病。

De Pace Raffaella, Dominguez Gonzalez Carlos A, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline

Prognostic value of inflammation-based scores in patients with R/R LBCL treated with CD3×CD20 bispecific T-cell engagers

炎症评分在接受 CD3×CD20 双特异性 T 细胞衔接器治疗的复发/难治性大B细胞淋巴瘤患者中的预后价值

Magno, Giulia; Rejeski, Kai; Rappa, Giulia; Stock, Sophia; Holzem, Alessandra; Landwehr, Maria; Seib, Maximilian; Kutsch, Nadine; Mammadova, Jamila; Mayer, Stephanie; Aumann, Shlomzion; Van Ham, Jonas; Ringelstein-Harlev, Shimrit; Velazquez, Giuliano Filippini; Wurm-Kuczera, Rebecca; Scholz, Julia Katharina; Greenbaum, Uri; Raj, Sandeep S; Shouval, Roni; Müller, Fabian; Chapuy, Björn; Schmid, Christoph; Beyar-Katz, Ofrat; Vergote, Vibeke K J; Poeck, Hendrik; Dong, Ning; Holtick, Udo; Ram, Ron; Pabst, Thomas; Shumilov, Evgenii; Lenz, Georg; Iacoboni, Gloria; Barba, Pere; Bücklein, Veit; Subklewe, Marion

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

Gestalt laws enhance the representation of figures over backgrounds in the visual cortex and influence contrast perception

格式塔法则增强了视觉皮层中图形相对于背景的表征,并影响对比度感知。

van Ham, Anne F; Jeurissen, Danique; Self, Matthew W; Roelfsema, Pieter R

SARS-CoV-2 mRNA Vaccination Leads to Transient Humoral and B Cell Bystander Responses in Adults

SARS-CoV-2 mRNA疫苗接种可导致成人产生短暂的体液免疫和B细胞旁观者免疫反应

Kuijper, Lisan H; Kummer, Laura Y L; Blanco, Laura Fernandez; van der Straten, Karlijn; Claireaux, Mathieu A F; Bos, Amélie V; Dieker-Meijer, Miranda C; Jorritsma, Tineke; Duurland, Mariël C; Steenhuis, Maurice; Vallejo, Juan J Garcia; van Dam, Koos P J; Stalman, Eileen W; Wieske, Luuk; Tas, Sander W; Boekel, Laura; Wolbink, Gert-Jan; Rispens, Theo; Kuijpers, Taco W; Eftimov, Filip; van Gils, Marit J; Ten Brinke, Anja; van Ham, S Marieke

Heterogeneous Activated B Cell Compartments Arising Early and Transiently After SARS-CoV-2 Vaccination

SARS-CoV-2疫苗接种后早期和短暂出现的异质性活化B细胞区室

Fernandez Blanco, Laura; Kuijper, Lisan H; Kummer, Laura Y L; Verstegen, Niels J M; Bos, Amélie; Claireaux, Mathieu; Duurland, Mariël C; Jorritsma, Tineke; Steenhuis, Maurice; Kerster, Gius; Vallejo, Juan J Garcia; van Gils, Marit J; van Dam, Koos P J; Stalman, Eileen W; Wieske, Luuk; Boekel, Laura; Wolbink, Gertjan J; Tas, Sander W; Rispens, Theo; Kuijpers, Taco W; Eftimov, Filip; Brinke, Anja Ten; van Ham, S Marieke

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

Antigen-specific B cell response regulation by IL-10-producing tolerogenic dendritic cells

IL-10 产生型耐受性树突状细胞对抗原特异性 B 细胞反应的调节

Morali, Konstantina; Steuten, Juulke; Russo, Fabio; Romana Santoni de Sio, Francesca; Menage, Charlotte; Consoli, Valentina; Annoni, Andrea; Iaia, Silvia; van Ham, S Marieke; Ten Brinke, Anja; Gregori, Silvia