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

Closed-loop optogenetic control of cell biology enables outcome-driven microscopy.

闭环光遗传学控制细胞生物学可实现结果驱动型显微镜技术。

Passmore Josiah B, Rates Alfredo, Schröder Jakob, van Laarhoven Menno T P, Hellebrekers Vincent J W, van Hoef Henrik G, Geurts Antonius J M, van Straaten Wendy, Nijenhuis Wilco, Berger Florian, Smith Carlas S, Smal Ihor, Kapitein Lukas C

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

基于临床级全基因组测序的单倍体技术能够进行所有形式的胚胎植入前遗传学检测。

Janssen, Anouk E J; Koeck, Rebekka M; Essers, Rick; Cao, Ping; van Dijk, Wanwisa; Drüsedau, Marion; Meekels, Jeroen; Yaldiz, Burcu; van de Vorst, Maartje; de Koning, Bart; Hellebrekers, Debby M E I; Stevens, Servi J C; Sun, Su Ming; Heijligers, Malou; de Munnik, Sonja A; van Uum, Chris M J; Achten, Jelle; Hamers, Lars; Naghdi, Marjan; Vissers, Lisenka E L M; van Golde, Ron J T; de Wert, Guido; Dreesen, Jos C F M; de Die-Smulders, Christine; Coonen, Edith; Brunner, Han G; van den Wijngaard, Arthur; Paulussen, Aimee D C; Zamani Esteki, Masoud

Genome sequencing as a generic diagnostic strategy for rare disease

基因组测序作为罕见病的通用诊断策略

Schobers, Gaby; Derks, Ronny; den Ouden, Amber; Swinkels, Hilde; van Reeuwijk, Jeroen; Bosgoed, Ermanno; Lugtenberg, Dorien; Sun, Su Ming; Corominas Galbany, Jordi; Weiss, Marjan; Blok, Marinus J; Olde Keizer, Richelle A C M; Hofste, Tom; Hellebrekers, Debby; de Leeuw, Nicole; Stegmann, Alexander; Kamsteeg, Erik-Jan; Paulussen, Aimee D C; Ligtenberg, Marjolijn J L; Bradley, Xiangqun Zheng; Peden, John; Gutierrez, Alejandra; Pullen, Adam; Payne, Tom; Gilissen, Christian; van den Wijngaard, Arthur; Brunner, Han G; Nelen, Marcel; Yntema, Helger G; Vissers, Lisenka E L M

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases

遗传性心脏病胚胎植入前基因检测临床指南

Verdonschot, Job A J; Hellebrekers, Debby M E I; van Empel, Vanessa P M; Heijligers, Malou; de Munnik, Sonja; Coonen, Edith; Dreesen, Jos C M F; van den Wijngaard, Arthur; Brunner, Han G; Zamani Esteki, Masoud; Heymans, Stephane R B; de Die-Smulders, Christine E M; Paulussen, Aimée D C

Use of the experience sampling method in adolescents with Duchenne muscular dystrophy: a feasibility study

在杜氏肌营养不良症青少年中使用经验抽样法:一项可行性研究

Lionarons, Judith M; Delespaul, Philippe A E G; Hellebrekers, Danique M J; Broen, Martinus P G; Klinkenberg, Sylvia; Faber, Catharina G; Hendriksen, Jos G M; Vles, Johan S H

Automated image registration of cerebral digital subtraction angiography

脑数字减影血管造影的自动图像配准

Hellebrekers, Vincent J W; van Walsum, Theo; Smal, Ihor; Cornelissen, Sandra A P; van Zwam, Wim H; van der Lugt, Aad; van der Sluijs, Matthijs; Su, Ruisheng

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

对 41,755 个外显子组中旁系同源区域的系统分析揭示了具有临床意义的变异

Steyaert, Wouter; Haer-Wigman, Lonneke; Pfundt, Rolph; Hellebrekers, Debby; Steehouwer, Marloes; Hampstead, Juliet; de Boer, Elke; Stegmann, Alexander; Yntema, Helger; Kamsteeg, Erik-Jan; Brunner, Han; Hoischen, Alexander; Gilissen, Christian

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

RRAGC 中的新生错义变异导致儿童早期发生致命的 mTOR 病

Margot R F Reijnders, Annette Seibt, Melanie Brugger, Ideke J C Lamers, Torsten Ott, Oliver Klaas, Judit Horváth, Ailsa M S Rose, Isabel M Craghill, Theresa Brunet, Elisabeth Graf, Katharina Mayerhanser, Debby Hellebrekers, David Pauck, Eva Neuen-Jacob, Richard J T Rodenburg, Dagmar Wieczorek, Dirk

Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant

多中心临床和功能证据将一种复发的非典型丝状蛋白C剪接改变变体重新分类。

O'Neill, Matthew J; Chen, Suet Nee; Rumping, Lynne; Johnson, Renee; van Slegtenhorst, Marjon; Glazer, Andrew M; Yang, Tao; Solus, Joseph F; Laudeman, Julie; Mitchell, Devyn W; Vanags, Loren R; Kroncke, Brett M; Anderson, Katherine; Gao, Shanshan; Verdonschot, Job A J; Brunner, Han; Hellebrekers, Debby; Taylor, Matthew R G; Roden, Dan M; Wessels, Marja W; Lekanne Dit Deprez, Ronald H; Fatkin, Diane; Mestroni, Luisa; Shoemaker, M Benjamin

Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy

在扩张型心肌病患者的基因检测中使用大型基因组检测板的诊断和预后意义

Stroeks, Sophie L V M; Hellebrekers, Debby; Claes, Godelieve R F; Krapels, Ingrid P C; Henkens, Michiel H T M; Sikking, Maurits; Vanhoutte, Els K; Helderman-van den Enden, Apollonia; Brunner, Han G; van den Wijngaard, Arthur; Verdonschot, Job A J