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

Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework

利用临床基因组资源基因注释框架评估与止血和血栓形成相关的基因的临床有效性

Ross, Justyne E; Mohan, Shruthi; Zhang, Jing; Sullivan, Mia J; Bury, Loredana; Lee, Kristy; Futchi, Isabella; Frantz, Annabelle; McDougal, Dara; Perez Botero, Juliana; Cattaneo, Marco; Cooper, Nichola; Downes, Kate; Gresele, Paolo; Keenan, Catriona; Lee, Alfred I; Megy, Karyn; Morange, Pierre-Emmanuel; Morgan, Neil V; Schulze, Harald; Zimowski, Karen; Freson, Kathleen; Lambert, Michele P

Rift Valley fever virus is able to cross the human blood-brain barrier in vitro by direct infection with no deleterious effects

裂谷热病毒能够通过体外直接感染穿过人类血脑屏障,且不会产生有害影响

Jordan Quellec, Camille Piro-Megy, Marion Cannac, Sébastien Nisole, Florent H Marty, Fabien Gosselet, Fumitaka Shimizu, Takashi Kanda, Catherine Cêtre-Sossah #, Sara Salinas #

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

致病性和可能致病性变异对140214名英国生物银行参与者遗传性止血障碍的影响

Stefanucci, Luca; Collins, Janine; Sims, Matthew C; Barrio-Hernandez, Inigo; Sun, Luanluan; Burren, Oliver S; Perfetto, Livia; Bender, Isobel; Callahan, Tiffany J; Fleming, Kathryn; Guerrero, Jose A; Hermjakob, Henning; Martin, Maria J; Stephenson, James; Paneerselvam, Kalpana; Petrovski, Slavé; Porras, Pablo; Robinson, Peter N; Wang, Quanli; Watkins, Xavier; Frontini, Mattia; Laskowski, Roman A; Beltrao, Pedro; Di Angelantonio, Emanuele; Gomez, Keith; Laffan, Mike; Ouwehand, Willem H; Mumford, Andrew D; Freson, Kathleen; Carss, Keren; Downes, Kate; Gleadall, Nick; Megy, Karyn; Bruford, Elspeth; Vuckovic, Dragana

Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort

在英国一项全国性队列研究中,探讨极端神经性疼痛疾病的基因型-表型关系

Andreas C Themistocleous ,Georgios Baskozos ,Iulia Blesneac ,Maddalena Comini ,Karyn Megy ,Sam Chong ,Sri V V Deevi ,Lionel Ginsberg ,David Gosal ,Robert D M Hadden ,Rita Horvath ,Mohamed Mahdi-Rogers ,Adnan Manzur ,Rutendo Mapeta ,Andrew Marshall ,Emma Matthews ,Mark I McCarthy ,Mary M Reilly ,Tara Renton ,Andrew S C Rice ,Tom A Vale ,Natalie van Zuydam ,Suellen M Walker ,Christopher Geoffrey Woods ,David L H Bennett

Practical challenges for functional validation of STAT1 gain of function genetic variants

STAT1功能获得性基因变异功能验证面临的实际挑战

Albuquerque, Adriana S; Maimaris, Jesmeen; McKenna, Alexander J; Lambourne, Jonathan; Moreira, Fernando; Workman, Sarita; Megy, Karyn; Simeoni, Ilenia; Lango Allen, Hana; Morris, Emma C; Burns, Siobhan O

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

利用新一代测序技术和果蝇肾脏模型,探讨NUP93变异体在激素抵抗性肾病综合征中的相关性

Bierzynska, Agnieszka; Bull, Katherine; Miellet, Sara; Dean, Philip; Neal, Chris; Colby, Elizabeth; McCarthy, Hugh J; Hegde, Shivaram; Sinha, Manish D; Bugarin Diz, Carmen; Stirrups, Kathleen; Megy, Karyn; Mapeta, Rutendo; Penkett, Chris; Marsh, Sarah; Forrester, Natalie; Afzal, Maryam; Stark, Hannah; BioResource, Nihr; Williams, Maggie; Welsh, Gavin I; Koziell, Ania B; Hartley, Paul S; Saleem, Moin A

Surface charge modulation of rifampicin-loaded PLA nanoparticles to improve antibiotic delivery in Staphylococcus aureus biofilms

利福平载聚乳酸纳米粒子的表面电荷调节以改善金黄色葡萄球菌生物膜中的抗生素输送

David Da Costa, Chloé Exbrayat-Héritier, Basile Rambaud, Simon Megy, Raphaël Terreux, Bernard Verrier, Charlotte Primard

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis

GoldVariants,一个用于分享在出血、血栓和血小板疾病中检测到的罕见基因变异的资源:来自ISTH SSC血栓和止血基因组学小组委员会的通讯

Megy, Karyn; Downes, Kate; Morel-Kopp, Marie-Christine; Bastida, José M; Brooks, Shannon; Bury, Loredana; Leinoe, Eva; Gomez, Keith; Morgan, Neil V; Othman, Maha; Ouwehand, Willem H; Perez Botero, Juliana; Rivera, José; Schulze, Harald; Trégouët, David-Alexandre; Freson, Kathleen