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

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

PB1701: REPLACING THE CURRENT METHODS IN LEUKEMIA DIAGNOSTICS WITH OPTICAL GENOME MAPPING AND CAS9-DIRECTED NANOPORE SEQUENCING

PB1701:以光学基因组图谱和Cas9导向的纳米孔测序取代白血病诊断的现有方法

Szekely, Or; Rangadurai, Atul Kaushik; Gu, Stephanie; Manghrani, Akanksha; Guseva, Serafima; Al-Hashimi, Hashim M; Commandeur-Jan, Sabrina; van den Berg- de Ruiter, Eva; Vroom, Vincent; Scheper, Arjen; Johansson, Lennart; Bosscher, Laura; Rietema, Nettie; Drok, Gineke; Sikkema-Raddatz, Birgit; Knoers, Nine; van Diemen, Cleo; de Boer, Eddy

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

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

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

荷兰-弗拉芒性发育障碍/差异综合诊断指南中,探讨了诊断和治疗中一些未被充分报道的方面。

Bever, Yolande van; Brüggenwirth, Hennie T; Wolffenbuttel, Katja P; Dessens, Arianne B; Groenenberg, Irene A L; Knapen, Maarten F C M; De Baere, Elfride; Cools, Martine; van Ravenswaaij-Arts, Conny M A; Sikkema-Raddatz, Birgit; Claahsen-van der Grinten, Hedi; Kempers, Marlies; Rinne, Tuula; Hersmus, Remko; Looijenga, Leendert; Hannema, Sabine E

A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature

一款便于流程化的基因组诊断软件工具,通过将患者症状与文献进行匹配来确定基因的优先级。

van der Velde, K Joeri; van den Hoek, Sander; van Dijk, Freerk; Hendriksen, Dennis; van Diemen, Cleo C; Johansson, Lennart F; Abbott, Kristin M; Deelen, Patrick; Sikkema-Raddatz, Birgit; Swertz, Morris A