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

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

Rare variant contribution to human disease in 281,104 UK Biobank exomes

英国生物银行281104个外显子组中罕见变异对人类疾病的贡献

Wang, Quanli; Dhindsa, Ryan S; Carss, Keren; Harper, Andrew R; Nag, Abhishek; Tachmazidou, Ioanna; Vitsios, Dimitrios; Deevi, Sri V V; Mackay, Alex; Muthas, Daniel; Hühn, Michael; Monkley, Susan; Olsson, Henric; Wasilewski, Sebastian; Smith, Katherine R; March, Ruth; Platt, Adam; Haefliger, Carolina; Petrovski, Slavé

Assessing the Role of Rare Genetic Variation in Patients With Heart Failure

评估罕见基因变异在心力衰竭患者中的作用

Povysil, Gundula; Chazara, Olympe; Carss, Keren J; Deevi, Sri V V; Wang, Quanli; Armisen, Javier; Paul, Dirk S; Granger, Christopher B; Kjekshus, John; Aggarwal, Vimla; Haefliger, Carolina; Goldstein, David B

Whole-genome sequencing of patients with rare diseases in a national health system

国家卫生系统中罕见病患者的全基因组测序

Ernest Turro, William J Astle, Karyn Megy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis-Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V V Deevi, Timothy J Aitman, David L Bennett, 

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

散发性原发性免疫缺陷人群的全基因组测序

James E D Thaventhiran #, Hana Lango Allen #, Oliver S Burren #, William Rae #, Daniel Greene, Emily Staples, Zinan Zhang, James H R Farmery, Ilenia Simeoni, Elizabeth Rivers, Jesmeen Maimaris, Christopher J Penkett, Jonathan Stephens, Sri V V Deevi, Alba Sanchis-Juan, Nicholas S Gleadall, Moira J T

Whole-genome sequencing of patients with rare diseases in a national health system

在国家卫生系统中对罕见病患者进行全基因组测序

Ernest Turro ,William J Astle,Karyn Megy,Stefan Gräf ,Daniel Greene,Olga Shamardina,Hana Lango Allen,Alba Sanchis-Juan,Mattia Frontini ,Chantal Thys,Jonathan Stephens,Rutendo Mapeta,Oliver S Burren,Kate Downes,Matthias Haimel ,Salih Tuna,Sri V V Deevi,Timothy J Aitman,David L Bennett,Paul Calleja,Keren Carss,Mark J Caulfield,Patrick F Chinnery ,Peter H Dixon,Daniel P Gale,Roger James,Ania Koziell,Michael A Laffan,Adam P Levine,Eamonn R Maher ,Hugh S Markus,Joannella Morales,Nicholas W Morrell,Andrew D Mumford,Elizabeth Ormondroyd,Stuart Rankin,Augusto Rendon,Sylvia Richardson,Irene Roberts ,Noemi B A Roy ,Moin A Saleem,Kenneth G C Smith,Hannah Stark,Rhea Y Y Tan,Andreas C Themistocleous,Adrian J Thrasher,Hugh Watkins ,Andrew R Webster,Martin R Wilkins,Catherine Williamson,James Whitworth ,Sean Humphray,David R Bentley  ; NIHR BioResource for the 00,000 Genomes Project; Nathalie Kingston,Neil Walker,John R Bradley ,Sofie Ashford,Christopher J Penkett,Kathleen Freson,Kathleen E Stirrups,F Lucy Raymond,Willem H Ouwehand

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants

新一代测序技术在MYH9-RD诊断中的应用:预测致病变异

Bury, Loredana; Megy, Karyn; Stephens, Jonathan C; Grassi, Luigi; Greene, Daniel; Gleadall, Nick; Althaus, Karina; Allsup, David; Bariana, Tadbir K; Bonduel, Mariana; Butta, Nora V; Collins, Peter; Curry, Nicola; Deevi, Sri V V; Downes, Kate; Duarte, Daniel; Elliott, Kim; Falcinelli, Emanuela; Furie, Bruce; Keeling, David; Lambert, Michele P; Linger, Rachel; Mangles, Sarah; Mapeta, Rutendo; Millar, Carolyn M; Penkett, Christopher; Perry, David J; Stirrups, Kathleen E; Turro, Ernest; Westbury, Sarah K; Wu, John; BioResource, Nihr; Gomez, Keith; Freson, Kathleen; Ouwehand, Willem H; Gresele, Paolo; Simeoni, Ilenia

The Human Coronaviruses

人类冠状病毒

Downes, Kate; Megy, Karyn; Duarte, Daniel; Vries, Minka; Gebhart, Johanna; Hofer, Stefanie; Shamardina, Olga; Deevi, Sri V V; Stephens, Jonathan; Mapeta, Rutendo; Tuna, Salih; Al Hasso, Namir; Besser, Martin W; Cooper, Nichola; Daugherty, Louise; Gleadall, Nick; Greene, Daniel; Haimel, Matthias; Martin, Howard; Papadia, Sofia; Revel-Vilk, Shoshana; Sivapalaratnam, Suthesh; Symington, Emily; Thomas, Will; Thys, Chantal; Tolios, Alexander; Penkett, Christopher J; Ouwehand, Willem H; Abbs, Stephen; Laffan, Michael A; Turro, Ernest; Simeoni, Ilenia; Mumford, Andrew D; Henskens, Yvonne M C; Pabinger, Ingrid; Gomez, Keith; Freson, Kathleen; Schildgen, Oliver