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

Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes

对英国生物银行470,727个基因组中的拷贝数变异进行全表型组分析

Zou, Xueqing Zoe; Hu, Fengyuan; Lou, Haiyi; Burren, Oliver S; Li, Xiaoyin; Megy, Karyn; Wheeler, Eleanor; Wu, Qiang; Atanur, Santosh S; Karpinski, Marcin; Loesch, Douglas; Fairhurst-Hunter, Zammy; Deevi, Sri V V; Oerton, Erin; Wen, Sean; Jiang, Xiao; Salvoro, Cecilia; Mitchell, Jonathan; Nag, Abhishek; Hollis, Ben; O'Neill, Amanda; Harrow, Jen; MacArthur, Stewart; Wasilewski, Sebastian; O'Dell, Sean; Tian, Lifeng; Smith, Katherine R; Del Angel, Guillermo; Fabre, Margarete; Dhindsa, Ryan S; Wang, Quanli; Petrovski, Slavé; Carss, Keren

Author Correction: Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes

作者更正:对英国生物银行470,727个基因组中的拷贝数变异进行全表型分析

Zou, Xueqing Zoe; Hu, Fengyuan; Lou, Haiyi; Burren, Oliver S; Li, Xiaoyin; Megy, Karyn; Wheeler, Eleanor; Wu, Qiang; Atanur, Santosh S; Karpinski, Marcin; Loesch, Douglas; Fairhurst-Hunter, Zammy; Deevi, Sri V V; Oerton, Erin; Wen, Sean; Jiang, Xiao; Salvoro, Cecilia; Mitchell, Jonathan; Nag, Abhishek; Hollis, Ben; O'Neill, Amanda; Harrow, Jen; MacArthur, Stewart; Wasilewski, Sebastian; O'Dell, Sean; Tian, Lifeng; Smith, Katherine R; Del Angel, Guillermo; Fabre, Margarete; Dhindsa, Ryan S; Wang, Quanli; Petrovski, Slavé; Carss, Keren

The lived experience of adolescents with X-linked hypophosphataemia treated with burosumab at end of skeletal growth: a mixed-methods analysis

接受布罗索单抗治疗的X连锁低磷血症青少年在骨骼生长末期的生活体验:一项混合方法分析

Saraff, Vrinda; Sancho, Pedro Arango; Bacchetta, Justine; Boot, Annemieke M; Burren, Christine; Chinoy, Amish; Dharmaraj, Poonam; Llorente, Maria Amelia Gómez; Rodríguez, Juan David González; Gueorguieva, Iva; Davies, Elin Haf; Hayes, Wesley; Komarzynski, Sandra; Duro, Héctor Ríos; Rylands, Angela J; Sandilands, Kerry; Williams, Angela; Hardie, Emily; Ishii, Haruka; Schnabel, Dirk; Selveindran, Santhani M; Linglart, Agnès

Adolescents' experience of living with X-linked hypophosphataemia (XLH): a mixed-methods analysis of those who continued and discontinued burosumab treatment after end of skeletal growth

青少年罹患X连锁低磷血症(XLH)的经历:一项混合方法分析,研究对象为骨骼生长结束后继续和停止布罗索单抗治疗的患者。

Saraff, Vrinda; Arango-Sancho, Pedro; Bacchetta, Justine; Boot, Annemieke M; Burren, Christine P; Chinoy, Amish; Dharmaraj, Poonam; Gómez Llorente, Maria Amelia; González Rodríguez, Juan David; Gueorguieva, Iva; Hayes, Wesley; Schnabel, Dirk; Duro, Héctor Ríos; Davies, Elin Haf; Komarzynski, Sandra; Rylands, Angela J; Sandilands, Kerry; Ishii, Haruka; Williams, Angela; Selveindran, Santhani; Barlassina, Adele; Bowden, Annabel; Linglart, Agnès

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis

墨西哥城前瞻性研究与英国生物银行的比较分析揭示了祖先特异性对克隆性造血的影响

Wen, Sean; Kuri-Morales, Pablo; Hu, Fengyuan; Nag, Abhishek; Tachmazidou, Ioanna; Deevi, Sri V V; Taiy, Haeyam; Smith, Katherine R; Loesch, Douglas P; Burren, Oliver S; Dhindsa, Ryan S; Wasilewski, Sebastian; Alegre-Díaz, Jesus; Berumen, Jaime; Emberson, Jonathan; Torres, Jason M; Collins, Rory; Carss, Keren; Wang, Quanli; Petrovski, Slavé; Tapia-Conyer, Roberto; Fabre, Margarete A; Harper, Andrew R; Vassiliou, George S; Mitchell, Jonathan

Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases

评估罕见蛋白质编码种系变异对 37,184 例前列腺癌风险和严重程度的影响

Mitchell, Jonathan; Camacho, Niedzica; Shea, Patrick; Stopsack, Konrad H; Joseph, Vijai; Burren, Oliver S; Dhindsa, Ryan S; Nag, Abhishek; Berchuck, Jacob E; O'Neill, Amanda; Abbasi, Ali; Zoghbi, Anthony W; Alegre-Díaz, Jesus; Kuri-Morales, Pablo; Berumen, Jaime; Tapia-Conyer, Roberto; Emberson, Jonathan; Torres, Jason M; Collins, Rory; Wang, Quanli; Goldstein, David; Matakidou, Athena; Haefliger, Carolina; Anderson-Dring, Lauren; March, Ruth; Jobanputra, Vaidehi; Dougherty, Brian; Carss, Keren; Petrovski, Slavé; Kantoff, Philip W; Offit, Kenneth; Mucci, Lorelei A; Pomerantz, Mark; Fabre, Margarete A

One Size Does Not Fit All: The Need for Sex-Specific Precision Medicine in Diabetes Technology

一刀切的方案并不适用:糖尿病技术领域需要针对不同性别的精准医疗

Hossmann, Stefanie; Tan, Susanne; Mader, Julia K; Klonoff, David C; Adams, Dawn; Ballhausen, Hanne; Bally, Lia; Balmer, Maria L; Braunack-Mayer, Vincent; Bonhoure, Anne; Burren, David; Boughton, Charlotte K; Cengiz, Deniz; Eberle, Claudia; Fabris, Chiara; Friedman, Maya; Fröhlich-Reiterer, Elke; Gunn, Tim; Gusyatiner, Olga; Hastings, Theresa; Huwiler, Valentina V; Khan-Gallo, Saira; Levy, Carol J; Moser, Othmar; O'Kane, Aisling Ann; Keighron, Cameron; Oliver, Nick; Prioleau, Temiloluwa; Thybo, Tanja; Yardley, Jane; Zueger, Thomas; Faber-Heinemann, Gabriele; Heinemann, Lutz; Rothenbühler, Martina

Comparison of carbon dioxide control during pressure controlled versus pressure-regulated volume controlled ventilation in children (CoCO2): protocol for a pilot digital randomised controlled trial in a quaternary paediatric intensive care unit

儿童压力控制通气与压力调节容量控制通气二氧化碳控制的比较(CoCO2):一项在四级儿科重症监护病房开展的试点数字随机对照试验方案

Mozun, Rebeca; Chopard, Daphné; Zapf, Florian; Baumann, Philipp; Brotschi, Barbara; Adam, Anika; Jaeggi, Vera; Bangerter, Beat; Gibbons, Kristen S; Burren, Juerg; Schlapbach, Luregn J

Translation, cultural adaptation, and validation of the German EMPATHIC-30G questionnaire for use in the neonatal intensive care setting

对德语版 EMPATHIC-30G 问卷进行翻译、文化调适和验证,使其适用于新生儿重症监护环境。

Odermatt, Katja; Roumet, Marie; Arnold, Christine; Burren, Juerg; Latour, Jos M; Marston, Mark T; Nagl-Cupal, Martin; Rippe, Ralph C A; Schwarz, Christoph E; Simma, Alexander; Ferentzi, Hannah; Kidszun, André

Population-scale sequencing resolves correlates and determinants of latent Epstein-Barr Virus infection

群体规模测序揭示了潜伏性EB病毒感染的相关因素和决定因素

Nyeo, Sherry S; Cumming, Erin M; Burren, Oliver S; Pagadala, Meghana S; Gutierrez, Jacob C; Ali, Thahmina A; Kida, Laura C; Chen, Yifan; Hu, Fengyuan; Hollis, Benjamin; Fabre, Margarete; MacArthur, Stewart; Wang, Quanli; Ludwig, Leif S; Dey, Kushal K; Petrovski, Slavé; Dhindsa, Ryan S; Lareau, Caleb A