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

Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants

携带ALPL变异的无症状个体低磷酸血症的生化表型

Montero-Lopez, Rodrigo; Farman, Mariam R; Högler, Florian; Rehder, Catherine; Malli, Theodora; Webersinke, Gerald; Rockman-Greenberg, Cheryl; Dahir, Kathryn; Martos-Moreno, Gabriel Ángel; Linglart, Agnès; Ozono, Keiichi; Seefried, Lothar; Del Angel, Guillermo; Nading, Erica Burner; Huggins, Erin; Rush, Eric T; Tauer, Josephine T; Kishnani, Priya S; Högler, Wolfgang

Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.

ITSN1 单倍体不足与帕金森病风险显著增加有关

Spargo Thomas P, Sands Chloe F, Juan Isabella R, Mitchell Jonathan, Ravanmehr Vida, Butts Jessica C, De-Paula Ruth B, Kim Youngdoo, Hu Fengyuan, Wang Quanli, Vitsios Dimitrios, Garg Manik, Middleton Lawrence, Tyrlik Michal, Messa Mirko, Del Angel Guillermo, Calame Daniel G, Saade Hiba, Robak Laurie, Hollis Ben, Cuddapah Vishnu A, Zoghbi Huda Y, Shulman Joshua M, Petrovski Slavé, Al-Ramahi Ismael, Tachmazidou Ioanna, Dhindsa Ryan S

Revisiting the Genetics of Hypophosphatasia

重新审视低磷酸血症的遗传学

Kishnani, Priya S; Rehder, Catherine; Ozono, Keiichi; Pérez-López, Jordi; Del Angel, Guillermo; Mowrey, William R; Balasubramanian, Meena; Högler, Wolfgang; Rush, Eric T

Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities

威尔逊病ATP7B变异体的功能筛选揭示了残余转运活性

Calvo, Jenifer S; Heger, Tomáš; Kabin, Ekaterina; Mowrey, William R; Del Angel, Guillermo; Ding, Wei; Lutsenko, Svetlana

Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants

对具有低磷酸酯酶症临床特征但ALPL变异阴性的成年人进行全基因组测序

Seefried, Lothar; Petryk, Anna; Del Angel, Guillermo; Reder, Felix; Bauer, Peter

Response to Grosse et al

对 Grosse 等人的回应

Kingsmore, Stephen F; Smith, Laurie D; Kunard, Chris M; Bainbridge, Matthew; Batalov, Sergey; Benson, Wendy; Blincow, Eric; Caylor, Sara; Chambers, Christina; Del Angel, Guillermo; Dimmock, David P; Ding, Yan; Ellsworth, Katarzyna; Feigenbaum, Annette; Frise, Erwin; Green, Robert C; Guidugli, Lucia; Hall, Kevin P; Hansen, Christian; Hobbs, Charlotte A; Kahn, Scott D; Kiel, Mark; Van Der Kraan, Lucita; Krilow, Chad; Kwon, Yong H; Madhavrao, Lakshminarasimha; Le, Jennie; Lefebvre, Sebastien; Mardach, Rebecca; Mowrey, William R; Oh, Danny; Owen, Mallory J; Powley, George; Scharer, Gunter; Shelnutt, Seth; Tokita, Mari; Mehtalia, Shyamal S; Oriol, Albert; Papadopoulos, Stavros; Perry, James; Rosales, Edwin; Sanford, Erica; Schwartz, Steve; Tran, Duke; Reese, Martin G; Wright, Meredith; Veeraraghavan, Narayanan; Wigby, Kristen; Willis, Mary J; Wolen, Aaron R; Defay, Thomas

Current Advances in Nanotechnology for the Next Generation of Sequencing (NGS)

纳米技术在下一代测序(NGS)中的最新进展

Bracamonte, Angel Guillermo