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

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

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal

对 TSC1 和 TSC2 进行靶向基因组测序,揭示了先前结节性硬化症基因检测结果正常的个体中存在的致病变异。

West, Hannah D; Nellist, Mark; Brouwer, Rutger W W; van den Hout-van Vroonhoven, Mirjam C G N; de Almeida, Luiz Gustavo Dufner; Hendriks, Femke; Elfferich, Peter; Raja, Meera; Giles, Peter; Alfano, Rosa M; Peron, Angela; Sznajer, Yves; De Waele, Liesbeth; Jansen, Anna; Koopmans, Marije; Kievit, Anneke; Farach, Laura S; Northrup, Hope; Sampson, Julian R; Thomas, Laura E; van IJcken, Wilfred F J

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome

功能性检测结合前体mRNA剪接分析可提高1型神经纤维瘤病和Legius综合征患者的变异分类和诊断水平

Douben, Hannie; Hoogeveen-Westerveld, Marianne; Nellist, Mark; Louwen, Jesse; Haan, Marian Kroos-de; Punt, Mattijs; van Ommeren, Babeth; van Unen, Leontine; Elfferich, Peter; Kasteleijn, Esmee; van Bever, Yolande; van Vliet, Margreethe; Oostenbrink, Rianne; Saris, Jasper J; Wagner, Anja; van Ierland, Yvette; van Ham, Tjakko; van Minkelen, Rick

High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

通过对表观正常的诊断性DNA检测结果进行皮肤成纤维细胞转录组筛选,可以高效鉴定致病性NF1变异体。

Douben, Hannie C W; Nellist, Mark; van Unen, Leontine; Elfferich, Peter; Kasteleijn, Esmee; Hoogeveen-Westerveld, Marianne; Louwen, Jesse; van Veghel-Plandsoen, Monique; de Valk, Walter; Saris, Jasper J; Hendriks, Femke; Korpershoek, Esther; Hoefsloot, Lies H; van Vliet, Margreethe; van Bever, Yolande; van de Laar, Ingrid; Aten, Emmelien; Lachmeijer, Augusta M A; Taal, Walter; van den Bersselaar, Lisa; Schuurmans, Juliette; Oostenbrink, Rianne; van Minkelen, Rick; van Ierland, Yvette; van Ham, Tjakko J

Health-Related Quality of Life (HRQoL) in Sarcoidosis: Diagnosis, Management, and Health Outcomes

结节病患者的健康相关生活质量(HRQoL):诊断、治疗和健康结果

Saketkoo, Lesley Ann; Russell, Anne-Marie; Jensen, Kelly; Mandizha, Jessica; Tavee, Jinny; Newton, Jacqui; Rivera, Frank; Howie, Mike; Reese, Rodney; Goodman, Melanie; Hart, Patricia; Strookappe, Bert; De Vries, Jolanda; Rosenbach, Misha; Scholand, Mary Beth; Lammi, Mathew R; Elfferich, Marjon; Lower, Elyse; Baughman, Robert P; Sweiss, Nadera; Judson, Marc A; Drent, Marjolein

Ranking Self-reported Gastrointestinal Side Effects of Pharmacotherapy in Sarcoidosis

结节病药物治疗中患者自述胃肠道副作用的排名

Drent, M; Proesmans, V L J; Elfferich, M D P; Jessurun, N T; de Jong, S M G; Ebner, N M; Lewis, E D O; Bast, A

Benefit of Wearing an Activity Tracker in Sarcoidosis

佩戴活动追踪器对结节病患者的好处

Drent, Marjolein; Elfferich, Marjon; Breedveld, Ellen; Vries, Jolanda De; Strookappe, Bert

Risk and outcome of COVID-19 infection in sarcoidosis patients: results of a self-reporting questionnaire

结节病患者感染 COVID-19 的风险和结局:一项自我报告问卷调查的结果

Baughman, Robert P; Lower, Elyse E; Buchanan, Mindy; Rottoli, Paola; Drent, Marjolein; Sellares, Jacobo; Terwiel, Michelle; Elfferich, Marjon; Francesqui, Joel; Barriuso Cabrerizo, María Rita; Sweiss, Nadera; Martone, Filippo; Al-Hakim, Tamara; Judson, Marc A

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