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

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

对 37,184 例前列腺癌病例中罕见蛋白质编码种系变异对前列腺癌风险和严重程度的影响进行表征

Mitchell, Jonathan; Camacho, Niedzica; Shea, Patrick; Stopsack, Konrad H; Joseph, Vijai; Burren, Oliver; Dhindsa, Ryan; 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

Rare variant associations with plasma protein levels in the UK Biobank

英国生物银行中罕见变异与血浆蛋白水平的关联

Dhindsa, Ryan S; Burren, Oliver S; Sun, Benjamin B; Prins, Bram P; Matelska, Dorota; Wheeler, Eleanor; Mitchell, Jonathan; Oerton, Erin; Hristova, Ventzislava A; Smith, Katherine R; Carss, Keren; Wasilewski, Sebastian; Harper, Andrew R; Paul, Dirk S; Fabre, Margarete A; Runz, Heiko; Viollet, Coralie; Challis, Benjamin; Platt, Adam; Vitsios, Dimitrios; Ashley, Euan A; Whelan, Christopher D; Pangalos, Menelas N; Wang, Quanli; Petrovski, Slavé

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

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

对465个患有神经发育障碍的家庭进行基因组测序和全面的罕见变异分析

Sanchis-Juan, Alba; Megy, Karyn; Stephens, Jonathan; Armirola Ricaurte, Camila; Dewhurst, Eleanor; Low, Kayyi; French, Courtney E; Grozeva, Detelina; Stirrups, Kathleen; Erwood, Marie; McTague, Amy; Penkett, Christopher J; Shamardina, Olga; Tuna, Salih; Daugherty, Louise C; Gleadall, Nicholas; Duarte, Sofia T; Hedrera-Fernández, Antonio; Vogt, Julie; Ambegaonkar, Gautam; Chitre, Manali; Josifova, Dragana; Kurian, Manju A; Parker, Alasdair; Rankin, Julia; Reid, Evan; Wakeling, Emma; Wassmer, Evangeline; Woods, C Geoffrey; Raymond, F Lucy; Carss, Keren J

Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank

英国生物银行中蛋白质编码变异对血液代谢物测量和临床生物标志物的影响

Nag, Abhishek; Dhindsa, Ryan S; Middleton, Lawrence; Jiang, Xiao; Vitsios, Dimitrios; Wigmore, Eleanor; Allman, Erik L; Reznichenko, Anna; Carss, Keren; Smith, Katherine R; Wang, Quanli; Challis, Benjamin; Paul, Dirk S; Harper, Andrew R; Petrovski, Slavé

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

MED27、SLC6A7 和 MPPE1 变异与伴有严重肌张力障碍的复杂神经发育障碍有关

Reid, Kimberley M; Spaull, Robert; Salian, Smrithi; Barwick, Katy; Meyer, Esther; Zhen, Juan; Hirata, Hiromi; Sheipouri, Diba; Benkerroum, Hind; Gorman, Kathleen M; Papandreou, Apostolos; Simpson, Michael A; Hirano, Yoshinobu; Farabella, Irene; Topf, Maya; Grozeva, Detelina; Carss, Keren; Smith, Martin; Pall, Hardev; Lunt, Peter; De Gressi, Susanna; Kamsteeg, Erik-Jan; Haack, Tobias B; Carr, Lucinda; Guerreiro, Rita; Bras, Jose; Maher, Eamonn R; Scott, Richard H; Vandenberg, Robert J; Raymond, F Lucy; Chong, Wui K; Sudhakar, Sniya; Mankad, Kshitij; Reith, Maarten E; Campeau, Philippe M; Harvey, Robert J; Kurian, Manju A

Pharmacogenomic study of heart failure and candesartan response from the CHARM programme

来自CHARM计划的心力衰竭和坎地沙坦反应的药物基因组学研究

Dubé, Marie-Pierre; Chazara, Olympe; Lemaçon, Audrey; Asselin, Géraldine; Provost, Sylvie; Barhdadi, Amina; Lemieux Perreault, Louis-Philippe; Mongrain, Ian; Wang, Quanli; Carss, Keren; Paul, Dirk S; Cunningham, Jonathan W; Rouleau, Jean; Solomon, Scott D; McMurray, John J V; Yusuf, Salim; Granger, Chris B; Haefliger, Carolina; de Denus, Simon; Tardif, Jean-Claude

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