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

Using Patient Feedback to Improve Treatment Outcomes for Patients with Congenital Dyserythropoietic Anaemia Type I Receiving Interferon Therapy

利用患者反馈改善接受干扰素治疗的I型先天性红细胞生成障碍性贫血患者的治疗效果

Frey, Karl; Brolih, Sanja; Scott, Caroline; Fordham, Nicholas; Burrows, Sam; Cole, Nyree; Deem, Karen; Jenkins, Christopher; Proven, Melanie; Babbs, Christian; Roy, Noemi Bernadette Alice

RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.

RNA聚合酶II的暂停在时间上协调细胞周期进程和红系分化

Martell Danya J, Merens Hope E, Caulier Alexis, Fiorini Claudia, Ulirsch Jacob C, Ietswaart Robert, Choquet Karine, Graziadei Giovanna, Brancaleoni Valentina, Cappellini Maria Domenica, Scott Caroline, Roberts Nigel, Proven Melanie, Roy Noémi B A, Babbs Christian, Higgs Douglas R, Sankaran Vijay G, Churchman L Stirling

The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper

下一代测序技术在罕见遗传性贫血诊断中的应用:英国血液学会/欧洲血液学协会联合良好实践文件

Roy, Noémi B A; Da Costa, Lydie; Russo, Roberta; Bianchi, Paola; Del Mar Mañú-Pereira, Maria; Fermo, Elisa; Andolfo, Immacolata; Clark, Barnaby; Proven, Melanie; Sanchez, Mayka; van Wijk, Richard; van der Zwaag, Bert; Layton, Mark; Rees, David; Iolascon, Achille

Genetic and functional insights into CDA-I prevalence and pathogenesis.

CDA-I 患病率和发病机制的遗传和功能见解

Olijnik Aude-Anais, Roy Noémi B A, Scott Caroline, Marsh Joseph A, Brown Jill, Lauschke Karin, Ask Katrine, Roberts Nigel, Downes Damien J, Brolih Sanja, Johnson Errin, Xella Barbara, Proven Melanie, Hipkiss Ria, Ryan Kate, Frisk Per, Mäkk Johan, Stattin Eva-Lena Maria, Sadasivam Nandini, McIlwaine Louisa, Hill Quentin A, Renella Raffaele, Hughes Jim R, Gibbons Richard J, Groth Anja, McHugh Peter J, Higgs Douglas R, Buckle Veronica J, Babbs Christian

A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias

一种新型的33基因靶向重测序检测方法可提供准确的临床级诊断,并改善罕见遗传性贫血症的患者管理。

Roy, Noémi B A; Wilson, Edward A; Henderson, Shirley; Wray, Katherine; Babbs, Christian; Okoli, Steven; Atoyebi, Wale; Mixon, Avery; Cahill, Mary R; Carey, Peter; Cullis, Jonathan; Curtin, Julie; Dreau, Helene; Ferguson, David J P; Gibson, Brenda; Hall, Georgina; Mason, Joanne; Morgan, Mary; Proven, Melanie; Qureshi, Amrana; Sanchez Garcia, Joaquin; Sirachainan, Nongnuch; Teo, Juliana; Tedgård, Ulf; Higgs, Doug; Roberts, David; Roberts, Irene; Schuh, Anna

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

一项针对C9orf72基因中GGGGCC重复序列扩增的基因检测可靠性的国际盲法研究显示,14个实验室的检测结果存在显著差异。

Akimoto, Chizuru; Volk, Alexander E; van Blitterswijk, Marka; Van den Broeck, Marleen; Leblond, Claire S; Lumbroso, Serge; Camu, William; Neitzel, Birgit; Onodera, Osamu; van Rheenen, Wouter; Pinto, Susana; Weber, Markus; Smith, Bradley; Proven, Melanie; Talbot, Kevin; Keagle, Pamela; Chesi, Alessandra; Ratti, Antonia; van der Zee, Julie; Alstermark, Helena; Birve, Anna; Calini, Daniela; Nordin, Angelica; Tradowsky, Daniela C; Just, Walter; Daoud, Hussein; Angerbauer, Sabrina; DeJesus-Hernandez, Mariely; Konno, Takuya; Lloyd-Jani, Anjali; de Carvalho, Mamede; Mouzat, Kevin; Landers, John E; Veldink, Jan H; Silani, Vincenzo; Gitler, Aaron D; Shaw, Christopher E; Rouleau, Guy A; van den Berg, Leonard H; Van Broeckhoven, Christine; Rademakers, Rosa; Andersen, Peter M; Kubisch, Christian