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

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

纳米孔长读长测序作为检测神经系统疾病中重复序列扩增的一线诊断测试

de Boer Eddy N, Scheper Arjen J, Hendriksen Dennis, Charbon Bart, van der Vries Gerben, Ten Berge Annelies M, Grootscholten Petra M, Lemmink Henny H, Jongbloed Jan D H, Bosscher Laura, Knoers Nine V A M, Swertz Morris A, Sikkema-Raddatz Birgit, Dijkstra Dorieke J, Johansson Lennart F, van Diemen Cleo C

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

荷兰基于NGS的新生儿筛查的未来:探索技术可能性并评估变异分类策略

Kiewiet, Gea; Westra, Dineke; de Boer, Eddy N; van Berkel, Emma; Hofste, Tom G J; van Zweeden, Martine; Derks, Ronny C; Leijsten, Nico F A; Ruiterkamp-Versteeg, Martina H A; Charbon, Bart; Johansson, Lennart; Bos-Kruizinga, Janneke; Veenstra, Inge J; de Sain-van der Velden, Monique G M; Voorhoeve, Els; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan; Sikkema-Raddatz, Birgit; Nelen, Marcel

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability

基于DNA的新生儿筛查:基于可治疗性的遗传代谢疾病筛查资格系统评估

Veldman, Abigail; Sikkema-Raddatz, Birgit; Derks, Terry G J; van Karnebeek, Clara D M; Kiewiet, M B Gea; Mulder, Margaretha F; Nelen, Marcel R; Rubio-Gozalbo, M Estela; Sinke, Richard J; de Sain-van der Velden, Monique G; Visser, Gepke; de Vries, Maaike C; Westra, Dineke; Williams, Monique; Wevers, Ron A; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan J

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics

Cas9 定向长读测序解决白血病诊断中的光学基因组图谱发现

Eddy N de Boer, Vincent Vroom #, Arjen J Scheper #, Lennart F Johansson, Laura Bosscher, Nettie Rietema, Sabrina Z Commandeur-Jan, Nine V A M Knoers, Birgit Sikkema-Raddatz, Eva van den Berg #, Cleo C van Diemen #

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia

对一组荷兰小脑共济失调患者进行脊髓小脑性共济失调基因拷贝数变异分析

Ghorbani, Fatemeh; de Boer, Eddy N; Benjamins-Stok, Marloes; Verschuuren-Bemelmans, Corien C; Knapper, Jurjen; de Boer-Bergsma, Jelkje; de Vries, Jeroen J; Sikkema-Raddatz, Birgit; Verbeek, Dineke S; Westers, Helga; van Diemen, Cleo C

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead

迈向基于下一代测序(NGS)的新生儿筛查:一项为应对未来挑战做好准备的技术研究

Veldman, Abigail; Kiewiet, Mensiena B G; Heiner-Fokkema, Margaretha Rebecca; Nelen, Marcel R; Sinke, Richard J; Sikkema-Raddatz, Birgit; Voorhoeve, Els; Westra, Dineke; Dollé, Martijn E T; Schielen, Peter C J I; van Spronsen, Francjan J

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance

脊髓小脑共济失调基因变异意义不明的后续研究和重新分类的可行性

Fatemeh Ghorbani, Mohamed Z Alimohamed, Juliana F Vilacha, Krista K Van Dijk, Jelkje De Boer-Bergsma, Michiel R Fokkens, Henny Lemmink, Rolf H Sijmons, Birgit Sikkema-Raddatz, Matthew R Groves, Corien C Verschuuren-Bemelmans, Dineke S Verbeek, Cleo C Van Diemen, Helga Westers

Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics

新基因变异分类方法的验证:诊断心脏遗传学中的现场测试

Alimohamed, Mohamed Z; Westers, Helga; Vos, Yvonne J; Van der Velde, K Joeri; Sijmons, Rolf H; Van der Zwaag, Paul A; Sikkema-Raddatz, Birgit; Jongbloed, Jan D H

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

CAPICE:一种用于临床外显子组变异致病性解释的计算方法,该方法无需考虑后果。

Li, Shuang; van der Velde, K Joeri; de Ridder, Dick; van Dijk, Aalt D J; Soudis, Dimitrios; Zwerwer, Leslie R; Deelen, Patrick; Hendriksen, Dennis; Charbon, Bart; van Gijn, Marielle E; Abbott, Kristin; Sikkema-Raddatz, Birgit; van Diemen, Cleo C; Kerstjens-Frederikse, Wilhelmina S; Sinke, Richard J; Swertz, Morris A

152. rapid Ultra-high Enrichment of Bacterial Pathogens at Low Concentration from Blood for Species ID and AMR Prediction Using Nanopore Sequencing

152. 利用纳米孔测序技术从血液中快速超高浓度富集细菌病原体,用于物种鉴定和抗菌药物耐药性预测

Baardman, R; Lemmink, H H; Yenamandra, V K; Commandeur-Jan, S Z; Viel, M; Kooi, K A; Diercks, G F H; Meijer, R; van Geel, M; Scheffer, H; Sinke, R J; Sikkema-Raddatz, B; Bolling, M C; van den Akker, P C; Tsui, Chiahao; Cunden, Lisa S; Billings, Nicole; Nanayakkara, Imaly A; Herriott, Ian; Kumcu, Michael E; Martin, Rachel R; Chen, Michelle; Pangestu, Febriana; Knysh, Paul; Maddux, Cabell; Munro, Zachary; Huntley, Miriam