日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

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

Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgaris

精神疾病易感性与寻常痤疮之间关系的遗传学探索

Mitchell, Brittany L; Lupton, Michelle K; Rentería, Miguel E; Simpson, Michael A; Reay, William R

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets

银屑病全基因组关联研究(GWAS)荟萃分析发现了影响疾病机制和治疗靶点的新易感基因

Dand, Nick; Stuart, Philip E; Bowes, John; Ellinghaus, David; Nititham, Joanne; Saklatvala, Jake R; Teder-Laving, Maris; Thomas, Laurent F; Traks, Tanel; Uebe, Steffen; Assmann, Gunter; Baudry, David; Behrens, Frank; Billi, Allison C; Brown, Matthew A; Burkhardt, Harald; Capon, Francesca; Chung, Raymond; Curtis, Charles J; Duckworth, Michael; Ellinghaus, Eva; FitzGerald, Oliver; Gerdes, Sascha; Griffiths, Christopher E M; Gulliver, Susanne; Helliwell, Philip S; Ho, Pauline; Hoffmann, Per; Holmen, Oddgeir L; Huang, Zhi-Ming; Hveem, Kristian; Jadon, Deepak; Köhm, Michaela; Kraus, Cornelia; Lamacchia, Céline; Lee, Sang Hyuck; Ma, Feiyang; Mahil, Satveer K; McHugh, Neil; McManus, Ross; Modalsli, Ellen H; Nissen, Michael J; Nöthen, Markus; Oji, Vinzenz; Oksenberg, Jorge R; Patrick, Matthew T; Perez White, Bethany E; Ramming, Andreas; Rech, Jürgen; Rosen, Cheryl; Sarkar, Mrinal K; Schett, Georg; Schmidt, Börge; Tejasvi, Trilokraj; Traupe, Heiko; Voorhees, John J; Wacker, Eike Matthias; Warren, Richard B; Wasikowski, Rachael; Weidinger, Stephan; Wen, Xiaoquan; Zhang, Zhaolin; Barton, Anne; Chandran, Vinod; Esko, Tõnu; Foerster, John; Franke, Andre; Gladman, Dafna D; Gudjonsson, Johann E; Gulliver, Wayne; Hüffmeier, Ulrike; Kingo, Külli; Kõks, Sulev; Liao, Wilson; Løset, Mari; Mägi, Reedik; Nair, Rajan P; Rahman, Proton; Reis, André; Smith, Catherine H; Di Meglio, Paola; Barker, Jonathan N; Tsoi, Lam C; Simpson, Michael A; Elder, James T

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.

DIAPH1 的遗传性缺陷揭示了由 α-肌动蛋白调控的 DNA 双链断裂修复途径

Woodward Beth L, Lahiri Sudipta, Chauhan Anoop S, Garcia Marcos Rios, Goodley Lucy E, Clarke Thomas L, Pal Mohinder, Agathanggelou Angelo, Jhujh Satpal S, Ganesh Anil N, Hollins Fay M, Deforie Valentina Galassi, Maroofian Reza, Efthymiou Stephanie, Meinhardt Andrea, Mathew Christopher G, Simpson Michael A, Mefford Heather C, Faqeih Eissa A, Rosenzweig Sergio D, Volpi Stefano, Di Matteo Gigliola, Cancrini Caterina, Scardamaglia Annarita, Shackley Fiona, Davies E Graham, Ibrahim Shahnaz, Arkwright Peter D, Zaki Maha S, Stankovic Tatjana, Taylor A Malcolm R, Mazur Antonina J, Di Donato Nataliya, Houlden Henry, Rothenberg Eli, Stewart Grant S

Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders

研究早产与遗传变异在罕见发育障碍中的相互作用

Wootton, Olivia; Campbell, Patrick; Richardson, Sarah; Lindsay, Sarah J; Huang, Qin Qin; Delage, Erwan; Amanat, Sana; Wong, Hilary S; Firth, Helen V; Hurles, Matthew E; Simpson, Michael A; Radford, Elizabeth J; Martin, Hilary C

Genetic liability to psoriasis predicts severe disease outcomes

银屑病遗传易感性预示着严重的疾病后果。

Saklatvala, Jake R; Lessard, Samuel; Teder-Laving, Maris; Thomas, Laurent F; Ramessur, Ravi; Zierer, Jonas; Åsvold, Bjørn Olav; Barton, Anne; Baudry, David; Bowes, John; Brumpton, Ben; Bruno, Sandro; Chandran, Vinod; Chatelain, Clément; de Rinaldis, Emanuele; Elder, James T; Ellinghaus, David; Foerster, John; Franke, Andre; Gladman, Dafna D; Gulliver, Wayne; Hüffmeier, Ulrike; Huilaja, Laura; Hveem, Kristian; Khader, Shameer; Kingo, Külli; Klinger, Katherine; Kolbinger, Frank; Kõks, Sulev; Liao, Wilson; Nair, Rajan P; Nititham, Joanne; Rahman, Proton; Reis, André; Sagoo, Manpreet K; Stuart, Philip E; Tasanen, Kaisa; Traks, Tanel; Tsoi, Lam C; Uebe, Steffen; Watts, Katie; Barker, Jonathan N; Mahil, Satveer K; Langan, Sinéad M; Brown, Sara J; Løset, Mari; Paternoster, Lavinia; Dand, Nick; Smith, Catherine H; Simpson, Michael A

Epistasis of ERAP1 With 4 Major Histocompatibility Complex Class I Alleles in Frontal Fibrosing Alopecia: A Genome-Wide Association Study Meta-Analysis

ERAP1 与 4 个主要组织相容性复合体 I 类等位基因在额部纤维化性脱发中的上位性:一项全基因组关联研究荟萃分析

Rayinda, Tuntas; Dand, Nick; McSweeney, Sheila M; Christou, Evangelos; Ung, Chuin Ying; Stefanato, Catherine M; Fenton, David A; Harries, Matthew; Palamaras, Ioulios; Tidman, Alice; Holmes, Susan; Koutalopoulou, Anastasia; Ardern-Jones, Michael; Kaur, Manjit; Papanikou, Sofia; Chasapi, Vasiliki; Vañó-Galvan, Sergio; Saceda-Corralo, David; Melián-Olivera, Ana; Azcarraga-Llobet, Carlos; Lobato-Berezo, Alejandro; Bustamante, Mariona; Sunyer, Jordi; Starace, Michela Valeria Rita; Piraccini, Bianca Maria; Wiss, Isabel Pupo; Senna, Maryanne Makredes; Singh, Rashmi; Hillmann, Kathrin; Kanti-Schmidt, Varvara; Blume-Peytavi, Ulrike; McGrath, John A; Simpson, Michael A; Tziotzios, Christos

The role of lipid metabolism in acne risk: integrating blood metabolite and genetic insights

脂质代谢在痤疮风险中的作用:整合血液代谢物和遗传学见解

Liu, Mingjuan; Diaz-Torres, Santiago; Mitchell, Brittany L; Toledo-Flores, Deborah; Gharhakhani, Puya; Simpson, Michael A; Zhang, Hanlin; Ong, Jue-Sheng; Li, Jun; Rentería, Miguel E

Genome-wide association meta-regression identifies stem cell lineage orchestration as a key driver of acne risk

全基因组关联荟萃回归分析表明,干细胞谱系调控是痤疮风险的关键驱动因素。

Maxwell, Jessye; Mitchell, Brittany L; Du-Harpur, Xinyi; Pardo, Luba M; Witkam, Willemijn C A M; Dand, Nick; Bartels, Meike; Betti, Michael J; Boomsma, Dorret I; Dong, Xianjun; Gerring, Zachary; Finer, Sarah; Hagenbeek, Fiona A; Hottenga, Jouke Jan; Hripcsak, George; Huilaja, Laura; Hveem, Kristian; Jacobs, Benjamin M; Kals, Mart; Kaufman-Cook, James; Kettunen, Johannes; Khan, Atlas; Kingo, Külli; Kiryluk, Krzysztof; Løset, Mari; Lunter, Gerton; Lupton, Michelle K; Min, Josine L; Martin, Nicholas G; Medland, Sarah E; Metspalu, Andres; Neijzen, Dorien; Nijsten, Tamar E C; Nikopensius, Tiit; Olsen, Catherine M; Petukhova, Lynn; Reigo, Anu; Rentería, Miguel E; Rispoli, Rossella; Saklatvala, Jake; Sliz, Eeva; Tasanen-Määttä, Kaisa; Teder-Laving, Maris; Thomas, Laurent; Trembath, Richard C; Vaht, Mariliis; van Heel, David A; Weng, Chunhua; Whiteman, David C; Barker, Jonathan N; Smith, Catherine; Simpson, Michael A

Unravelling the causal link between gut microbiota and acne risk using a genetic approach

利用遗传学方法揭示肠道菌群与痤疮风险之间的因果关系

Cao, Fangyuan; Ogonowski, Natalia S; Díaz-Torres, Santiago; Mitchell, Brittany L; Gharhakhani, Puya; Martin, Nicholas G; Simpson, Michael A; Ong, Jue-Sheng; Rentería, Miguel E