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

Recurrent ETV3::NCOA2 fusions and MAPK pathway mutations in indeterminate dendritic cell histiocytosis

不确定型树突状细胞组织细胞增生症中复发的ETV3::NCOA2融合和MAPK通路突变

Kemps, Paul G; Woei-A-Jin, F J Sherida H; Quint, Koen D; van den Bos, Cor; Naeije, Leonie; van Laar, Jan A M; Vanden Bempt, Isabelle; Koudijs, Marco J; Vorderman, Ruben H P; Stelloo, Ellen; Swennenhuis, Joost F; Bruggink, Annette H; Hebeda, Konnie M; Scheijde-Vermeulen, Marijn A; Diercks, Gilles F H; Verdijk, Robert M; Jansen, Patty M; Hauben, Esther; Tousseyn, Thomas; Cleven, Arjen H G; van Wezel, Tom; van Halteren, Astrid G S; Hogendoorn, Pancras C W

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

与MCM8和MCM9基因双等位基因种系变异相关的临床综合征

Helderman, Noah C; Yang, Ting; Palles, Claire; Terlouw, Diantha; Mei, Hailiang; Vorderman, Ruben H P; Cats, Davy; Díaz-Gay, Marcos; Jongmans, Marjolijn C J; Ramdien, Ashwin; van de Beek, Irma; Eleveld, Thomas F; Green, Andrew; Hes, Frederik J; van den Heuvel-Eibrink, Marry M; Van Der Kelen, Annelore; Kliesch, Sabine; Kuiper, Roland P; Lakeman, Inge M M; Lashley, Lisa E E L O; Looijenga, Leendert H J; Oud, Manon S; Steingröver, Johanna; Tenenbaum-Rakover, Yardena; Tops, Carli M; Tüttelmann, Frank; de Voer, Richarda M; Westra, Dineke; Wyrwoll, Margot J; Golubicki, Mariano; Antelo, Marina; Bonjoch, Laia; Terradas, Mariona; Valle, Laura; Alexandrov, Ludmil B; Morreau, Hans; van Wezel, Tom; Castellví-Bel, Sergi; Goldberg, Yael; Nielsen, Maartje

Sequali: efficient and comprehensive quality control of short- and long-read sequencing data

Sequali:高效、全面的短读长和长读长测序数据质量控制

Vorderman, Ruben H P

Angiopoietin-like 4 governs diurnal lipoprotein lipase activity in brown adipose tissue

血管生成素样 4 调控棕色脂肪组织中的昼夜脂蛋白脂肪酶活性

Robin van Eenige, Wietse In Het Panhuis, Milena Schönke, Céline Jouffe, Thomas H Devilee, Ricky Siebeler, Trea C M Streefland, Hetty C M Sips, Amanda C M Pronk, Ruben H P Vorderman, Hailiang Mei, Jan Bert van Klinken, Michel van Weeghel, Nina H Uhlenhaut, Sander Kersten, Patrick C N Rensen, Sander K

Development of an extensive workflow for comprehensive clinical pharmacogenomic profiling: lessons from a pilot study on 100 whole exome sequencing data

开发用于全面临床药物基因组学分析的广泛工作流程:来自一项基于100个全外显子组测序数据的试点研究的经验教训

Tafazoli, Alireza; van der Lee, Maaike; Swen, Jesse J; Zeller, Anna; Wawrusiewicz-Kurylonek, Natalia; Mei, Hailiang; Vorderman, Ruben H P; Konopko, Krzysztof; Zankiewicz, Andrzej; Miltyk, Wojciech

Retrospective Validation of a Metagenomic Sequencing Protocol for Combined Detection of RNA and DNA Viruses Using Respiratory Samples from Pediatric Patients

使用儿科患者呼吸道样本对 RNA 和 DNA 病毒联合检测的宏基因组测序方案进行回顾性验证

Sander van Boheemen, Anneloes L van Rijn, Nikos Pappas, Ellen C Carbo, Ruben H P Vorderman, Igor Sidorov, Peter J van T Hof, Hailiang Mei, Eric C J Claas, Aloys C M Kroes, Jutte J C de Vries