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

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

对 44,028 名具有高纯合性的英国南亚裔人群进行外显子组测序和分析

Kim, Hye In; DeBoever, Christopher; Walter, Klaudia; Kalantzis, Georgios; Li, Chen; Mozaffari, Sahar V; Kundu, Kousik; Jacobs, Benjamin M; Mohammadi-Shemirani, Pedrum; Musolf, Anthony M; Davitte, Jonathan M; Aksit, Melis A; Gafton, Joseph; Catalano, Katrina A; Dawed, Adem Y; Graham, Robert R; Guo, Bin; Gupta, Namrata; Heng, Teng Hiang; Hunt, Karen A; Iyer, Vivek; Langenberg, Claudia; Lassen, Frederik H; MacArthur, Daniel G; Maher, Eamonn R; Maroteau, Cyrielle; Newman, William G; O'Rahilly, Stephen; Palmer, Duncan S; Popov, Iaroslav; Siddiqui, Moneeza K; Simpson, Michael A; Spreckley, Marie; Wright, John; Del Angel, Guillermo; Petrovski, Slavé; Holzinger, Emily R; Maranville, Joseph C; Addis, Laura; Turner, Richard M; Estrada, Karol; Longerich, Simone; Howson, Joanna M M; Jamshidi, Yalda; Fauman, Eric B; Miller, Melissa R; Diogo, Dorothée; Trembath, Richard C; Finer, Sarah; Martin, Hilary C; van Heel, David A

Rare heterozygous missense variants in VSX2 are associated with retinal detachment

VSX2基因中罕见的杂合错义变异与视网膜脱离有关

Brock, Daniel C; Dhindsa, Justin S; Chen, Yifan; Ravanmehr, Vida; Mitchell, Jonathan; Hu, Fengyuan; Li, Xiaoyin; Nandigam, Likhita; Wang, Quanli; Wu, Kevin; Butts, Jessica C; Dhindsa, Hardeep S; Frankfort, Benjamin J; Tran, Nicholas M; Petrovski, Slavé; Dhindsa, Ryan S

Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant

利用p.N264K M1保护性变异进行APOL1肾病精准诊断

Martinelli, Elena; Ke, Juntao; Khan, Atlas; Wongboonsin, Janewit; Vanderwall, David R; Lim, Tze Y; Santoriello, Dominick; Gupta, Yask; McNulty, Michelle T; Koyama, Satoshi; Puntambekar, Sidhant; Bomback, Andrew S; Canetta, Pietro; Kretzler, Matthias; Montini, Giovanni; Morello, William; Maggiore, Umberto; Fiaccadori, Enrico; Gesualdo, Loreto; Ghiggeri, Gian Marco; Oliveira, Eduardo Araújo; Simoes E Silva, Ana Cristina; Bendapudi, Pavan K; Motelow, Joshua; Garcia, Christine K; Paul, Dirk S; Petrovski, Slavé; Goldstein, David B; Friedman, David J; Radhakrishnan, Jai; Lin, Fangming; Mohan, Sumit; Appel, Gerald B; Saleem, Moin A; Natarajan, Pradeep; Hildebrandt, Friedhelm; Westland, Rik; D'Agati, Vivette D; Gbadegesin, Rasheed; Gharavi, Ali G; Pollak, Martin R; Kiryluk, Krzysztof; Sampson, Matthew G; Sanna-Cherchi, Simone

Mitochondrial metabolism sustains DNMT3A-R882-mutant clonal haematopoiesis

线粒体代谢维持DNMT3A-R882突变克隆性造血

Malgorzata Gozdecka,Monika Dudek #,Sean Wen #,Muxin Gu,Richard J Stopforth,Justyna Rak,Aristi Damaskou,Guinevere L Grice,Matthew A McLoughlin,Laura Bond,Rachael Wilson,George Giotopoulos,Vijaya Mahalingam Shanmugiah,Rula Bany Bakar,Eliza Yankova ,Jonathan L Cooper,Nisha Narayan,Sarah J Horton,Ryan Asby,Dean C Pask,Annalisa Mupo,Graham Duddy,Ludovica Marando,Theodoros Georgomanolis,Paul Carter,Amirtha Priya Ramesh,William G Dunn,Clea Barcena ,Paolo Gallipoli,Kosuke Yusa,Slavé Petrovski,Penny Wright,Pedro M Quiros ,Christian Frezza,James A Nathan,Arthur Kaser,Siddhartha Kar,Konstantinos Tzelepis ,Jonathan Mitchell,Margarete A Fabre ,Brian J P Huntly ,George S Vassiliou

Mitochondrial metabolism sustains DNMT3A-R882-mutant clonal haematopoiesis

线粒体代谢维持DNMT3A-R882突变克隆性造血

Malgorzata Gozdecka ,Monika Dudek # ,Sean Wen # ,Muxin Gu ,Richard J Stopforth ,Justyna Rak ,Aristi Damaskou ,Guinevere L Grice ,Matthew A McLoughlin ,Laura Bond ,Rachael Wilson ,George Giotopoulos ,Vijaya Mahalingam Shanmugiah ,Rula Bany Bakar ,Eliza Yankova ,Jonathan L Cooper ,Nisha Narayan ,Sarah J Horton ,Ryan Asby ,Dean C Pask ,Annalisa Mupo ,Graham Duddy ,Ludovica Marando ,Theodoros Georgomanolis ,Paul Carter ,Amirtha Priya Ramesh ,William G Dunn ,Clea Barcena ,Paolo Gallipoli ,Kosuke Yusa ,Slavé Petrovski ,Penny Wright ,Pedro M Quiros ,Christian Frezza ,James A Nathan ,Arthur Kaser ,Siddhartha Kar ,Konstantinos Tzelepis ,Jonathan Mitchell ,Margarete A Fabre ,Brian J P Huntly ,George S Vassiliou

Diverse ancestral representation improves genetic intolerance metrics

多样化的祖先代表能够改善遗传不耐受性指标。

Han, Alexander L; Sands, Chloe F; Matelska, Dorota; Butts, Jessica C; Ravanmehr, Vida; Hu, Fengyuan; Villavicencio Gonzalez, Esmeralda; Katsanis, Nicholas; Bustamante, Carlos D; Wang, Quanli; Petrovski, Slavé; Vitsios, Dimitrios; Dhindsa, Ryan S

Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy

TRPC6相关足细胞病的自然史和临床病理学关联

Wooden, Benjamin; Beenken, Andrew; Martinelli, Elena; Saida, Ken; Knob, Andrea L; Ke, Juntao; Pisani, Isabella; Jin, Gina; Lane, Brandon; Mitrotti, Adele; Colby, Elizabeth; Lim, Tze Y; Guglielmi, Francesca; Osborne, Amy J; Ahram, Dina F; Wang, Chen; Armand, Farid; Zanoni, Francesca; Bomback, Andrew S; Delsante, Marco; Appel, Gerald B; Ferrari, Massimo R A; Martino, Jeremiah; Sahdeo, Sunil; Breckenridge, David; Petrovski, Slavé; Paul, Dirk S; Hall, Gentzon; Magistroni, Riccardo; Murtas, Corrado; Feriozzi, Sandro; Rampino, Teresa; Esposito, Pasquale; Helmuth, Margaret E; Sampson, Matthew G; Kretzler, Matthias; Kiryluk, Krzysztof; Shril, Shirlee; Gesualdo, Loreto; Maggiore, Umberto; Fiaccadori, Enrico; Gbadegesin, Rasheed; Santoriello, Dominick; D'Agati, Vivette D; Saleem, Moin A; Gharavi, Ali G; Hildebrandt, Friedhelm; Pollak, Martin R; Goldstein, David B; Sanna-Cherchi, Simone

Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes

全基因组预测显性和隐性神经发育障碍相关基因

Dhindsa, Ryan S; Weido, Blake A; Dhindsa, Justin S; Shetty, Arya J; Sands, Chloe F; Petrovski, Slavé; Vitsios, Dimitrios; Zoghbi, Anthony W