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

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

Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis

人类TBK1缺乏症:从自身炎症到病毒性脑炎的疾病谱扩大

Akalu, Yemsratch; Taft, Justin; Berger, Thomas; Rostásy, Kevin; Dafsari, Hormos S; Schönrade, Helena; Cüceoğlu, Müşerref Kasap; Özen, Seza; Faye, Albert; Melki, Isabelle; Dobroz, Imen; Boespflug-Tanguy, Odile; Kiykim, Ayça; Sahin, Sezgin; Tahir Turanli, Eda; Akca, Ümmüşen Kaya; van Laar, Jan A M; van Pelt, Philomine A; Hollink, Iris H I M; Pimpale Chavan, Pallavi; Khubchandani, Raju; Aksentijevich, Ivona; Bogunovic, Dusan

SUN-194 Pituitary Function After Moderate to Severe Head Trauma in Children

SUN-194 儿童中重度头部外伤后垂体功能

Coopmans, Eva C; Chunharojrith, Paweena; Neggers, Sebastian J C M M; van der Ent, Marianne W; Swagemakers, Sigrid M A; Hollink, Iris H; Barendregt, Barbara H; van der Spek, Peter J; van der Lely, Aart-Jan; van Hagen, P Martin; Dalm, Virgil A S H; Morales, William; Ramirez, Daniela; Leal, Victoria; Awadalla, Shokery

Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding

与晚发性噬血细胞性淋巴组织细胞增生症相关的新型 RAB27A 变体改变效应蛋白结合

Timo C E Zondag #, Lamberto Torralba-Raga #, Jan A M Van Laar, Maud A W Hermans, Arjen Bouman, Iris H I M Hollink, P Martin Van Hagen, Deborah A Briggs, Alistair N Hume, Yenan T Bryceson

Three patients with defects in interferon gamma receptor signaling: A challenging diagnosis

三例干扰素γ受体信号传导缺陷患者:一项具有挑战性的诊断

Zhou, Zijun; Hollink, Iris H I M; Bouman, Arjan; Lourens, Mirthe S; Brooimans, Rik A; van Ham, Tjakko J; Fraaij, Pieter L A; van Rossum, Annemarie M C; Zijtregtop, Eline A M; Dik, Willem A; Dalm, Virgil A S H; van Hagen, P Martin; Ijspeert, Hanna; Vermont, Clementien L

Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation

人类自身炎症性疾病揭示了ELF4作为炎症转录调节因子的作用。

Tyler, Paul M; Bucklin, Molly L; Zhao, Mengting; Maher, Timothy J; Rice, Andrew J; Ji, Weizhen; Warner, Neil; Pan, Jie; Morotti, Raffaella; McCarthy, Paul; Griffiths, Anne; van Rossum, Annemarie M C; Hollink, Iris H I M; Dalm, Virgil A S H; Catanzaro, Jason; Lakhani, Saquib A; Muise, Aleixo M; Lucas, Carrie L

Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis

IL2RA 基因座的重复会导致过多的 IL-2 信号传导,并可能导致极早发性结肠炎

Maria E Joosse, Fabienne Charbit-Henrion, Remy Boisgard, Rolien H C Raatgeep, Dicky J Lindenbergh-Kortleve, Léa M M Costes, Sandrine Nugteren, Nicolas Guegan, Marianna Parlato, Sharon Veenbergen, Valérie Malan, Jan K Nowak, Iris H I M Hollink, M Luisa Mearin, Johanna C Escher, Nadine Cerf-Bensussan 

Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers

在荷兰基因组诊断中心开展的关于先天性免疫缺陷早期下一代测序的前瞻性观察队列研究:诊断率和临床意义

Elsink, Kim; Huibers, Manon M H; Hollink, Iris H I M; Simons, Annet; Zonneveld-Huijssoon, Evelien; van der Veken, Lars T; Leavis, Helen L; Henriet, Stefanie S V; van Deuren, Marcel; van de Veerdonk, Frank L; Potjewijd, Judith; Berghuis, Dagmar; Dalm, Virgil A S H; Vermont, Clementien L; van de Ven, Annick A J M; Lambeck, Annechien J A; Abbott, Kristin M; van Hagen, P Martin; de Bree, Godelieve J; Kuijpers, Taco W; Frederix, Geert W J; van Gijn, Mariëlle E; van Montfrans, Joris M

Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands

荷兰父母对新生儿重症联合免疫缺陷症筛查实施的看法和社会接受度

Blom, Maartje; Bredius, Robbert G M; Jansen, Marleen E; Weijman, Gert; Kemper, Evelien A; Vermont, Clementien L; Hollink, Iris H I M; Dik, Willem A; van Montfrans, Joris M; van Gijn, Mariëlle E; Henriet, Stefanie S; van Aerde, Koen J; Koole, Wouter; Lankester, Arjan C; Dekkers, Eugènie H B M; Schielen, Peter C J I; de Vries, Martine C; Henneman, Lidewij; van der Burg, Mirjam

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies

国家级基于下一代测序技术的原发性免疫缺陷诊断外部质量评估

Elsink, Kim; Huibers, Manon M H; Hollink, Iris H I M; van der Veken, Lars T; Ernst, Robert F; Simons, Annet; Zonneveld-Huijssoon, Evelien; van der Hout, Annemieke H; Abbott, Kristin M; Hoischen, Alexander; Pieterse, Marc; Kuijpers, Taco W; van Montfrans, Joris M; van Gijn, Mariëlle E