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

Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease

长读长测序发现帕金森病中FGF14重复序列扩增

Akçimen, Fulya; Daida, Kensuke; Lange, Lara M; Moller, Abraham; Miano-Burkhardt, Abigail; Malik, Laksh; Paquette, Kimberly; Jerez, Pilar Alvarez; Mingle, Jackson; Baker, Breeana; Meredith, Melissa; Kouam, Cedric; Jarreau, Paige; Markham, Androo; Anderson, Jessica; Jain, Miten; Chaisson, Mark; Cookson, Mark; Casey, Bradford; Iwaki, Hirotaka; Bandres-Ciga, Sara; Saffie-Awad, Paula; Nalls, Mike; Fang, Zih-Hua; Singleton, Andrew B; Blauwendraat, Cornelis; Billingsley, Kimberley J

Cost of health inequality to the NHS in Wales

健康不平等给威尔士国民医疗服务体系带来的成本

Kadel, Rajendra; Allen, James; Darlington, Oliver; Masters, Rebecca; Collins, Brendan; Charles, Joanna M; Asaria, Miqdad; Dyakova, Mariana; Bellis, Mark; Cookson, Richard

Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease

帕金森病 LRRK2 修饰因子的全基因组关联研究

Dongbing Lai #, Babak Alipanahi #, Pierre Fontanillas #, Tae-Hwi Schwantes-An, Jan Aasly, Roy N Alcalay, Gary W Beecham, Daniela Berg, Susan Bressman, Alexis Brice, Kathrin Brockman, Lorraine Clark, Mark Cookson, Sayantan Das, Vivianna Van Deerlin, Jordan Follett, Matthew J Farrer, Joanne Trinh, Tho

The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes

与α1-抗胰蛋白酶缺乏症基因型相关的未确诊疾病负担

Nakanishi, Tomoko; Forgetta, Vincenzo; Handa, Tomohiro; Hirai, Toyohiro; Mooser, Vincent; Lathrop, G Mark; Cookson, William O C M; Richards, J Brent

Vitamin D levels and susceptibility to asthma, elevated immunoglobulin E levels, and atopic dermatitis: A Mendelian randomization study

维生素D水平与哮喘、免疫球蛋白E水平升高和特应性皮炎的易感性:一项孟德尔随机化研究

Manousaki, Despoina; Paternoster, Lavinia; Standl, Marie; Moffatt, Miriam F; Farrall, Martin; Bouzigon, Emmanuelle; Strachan, David P; Demenais, Florence; Lathrop, Mark; Cookson, William O C M; Richards, J Brent

Soap is not enough: handwashing practices and knowledge in refugee camps, Maban County, South Sudan

肥皂远远不够:南苏丹马班县难民营的洗手习惯和知识

Phillips, Raina M; Vujcic, Jelena; Boscoe, Andrew; Handzel, Thomas; Aninyasi, Mark; Cookson, Susan T; Blanton, Curtis; S Blum, Lauren; Ram, Pavani K

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

全基因组关联研究鉴定出影响血浆中肝酶浓度的基因位点

Chambers, John C; Zhang, Weihua; Sehmi, Joban; Li, Xinzhong; Wass, Mark N; Van der Harst, Pim; Holm, Hilma; Sanna, Serena; Kavousi, Maryam; Baumeister, Sebastian E; Coin, Lachlan J; Deng, Guohong; Gieger, Christian; Heard-Costa, Nancy L; Hottenga, Jouke-Jan; Kühnel, Brigitte; Kumar, Vinod; Lagou, Vasiliki; Liang, Liming; Luan, Jian'an; Vidal, Pedro Marques; Mateo Leach, Irene; O'Reilly, Paul F; Peden, John F; Rahmioglu, Nilufer; Soininen, Pasi; Speliotes, Elizabeth K; Yuan, Xin; Thorleifsson, Gudmar; Alizadeh, Behrooz Z; Atwood, Larry D; Borecki, Ingrid B; Brown, Morris J; Charoen, Pimphen; Cucca, Francesco; Das, Debashish; de Geus, Eco J C; Dixon, Anna L; Döring, Angela; Ehret, Georg; Eyjolfsson, Gudmundur I; Farrall, Martin; Forouhi, Nita G; Friedrich, Nele; Goessling, Wolfram; Gudbjartsson, Daniel F; Harris, Tamara B; Hartikainen, Anna-Liisa; Heath, Simon; Hirschfield, Gideon M; Hofman, Albert; Homuth, Georg; Hyppönen, Elina; Janssen, Harry L A; Johnson, Toby; Kangas, Antti J; Kema, Ido P; Kühn, Jens P; Lai, Sandra; Lathrop, Mark; Lerch, Markus M; Li, Yun; Liang, T Jake; Lin, Jing-Ping; Loos, Ruth J F; Martin, Nicholas G; Moffatt, Miriam F; Montgomery, Grant W; Munroe, Patricia B; Musunuru, Kiran; Nakamura, Yusuke; O'Donnell, Christopher J; Olafsson, Isleifur; Penninx, Brenda W; Pouta, Anneli; Prins, Bram P; Prokopenko, Inga; Puls, Ralf; Ruokonen, Aimo; Savolainen, Markku J; Schlessinger, David; Schouten, Jeoffrey N L; Seedorf, Udo; Sen-Chowdhry, Srijita; Siminovitch, Katherine A; Smit, Johannes H; Spector, Timothy D; Tan, Wenting; Teslovich, Tanya M; Tukiainen, Taru; Uitterlinden, Andre G; Van der Klauw, Melanie M; Vasan, Ramachandran S; Wallace, Chris; Wallaschofski, Henri; Wichmann, H-Erich; Willemsen, Gonneke; Würtz, Peter; Xu, Chun; Yerges-Armstrong, Laura M; Abecasis, Goncalo R; Ahmadi, Kourosh R; Boomsma, Dorret I; Caulfield, Mark; Cookson, William O; van Duijn, Cornelia M; Froguel, Philippe; Matsuda, Koichi; McCarthy, Mark I; Meisinger, Christa; Mooser, Vincent; Pietiläinen, Kirsi H; Schumann, Gunter; Snieder, Harold; Sternberg, Michael J E; Stolk, Ronald P; Thomas, Howard C; Thorsteinsdottir, Unnur; Uda, Manuela; Waeber, Gérard; Wareham, Nicholas J; Waterworth, Dawn M; Watkins, Hugh; Whitfield, John B; Witteman, Jacqueline C M; Wolffenbuttel, Bruce H R; Fox, Caroline S; Ala-Korpela, Mika; Stefansson, Kari; Vollenweider, Peter; Völzke, Henry; Schadt, Eric E; Scott, James; Järvelin, Marjo-Riitta; Elliott, Paul; Kooner, Jaspal S

A large-scale, consortium-based genomewide association study of asthma

一项大规模、基于联盟的哮喘全基因组关联研究

Moffatt, Miriam F; Gut, Ivo G; Demenais, Florence; Strachan, David P; Bouzigon, Emmanuelle; Heath, Simon; von Mutius, Erika; Farrall, Martin; Lathrop, Mark; Cookson, William O C M

Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients

驱动蛋白相关蛋白 3 (KIFAP3) 对 ALS 患者群体的生存没有影响

Bryan J Traynor, Michael Nalls, Shiao-Lin Lai, Raphael J Gibbs, Jennifer C Schymick, Sampath Arepalli, Dena Hernandez, Marcel P van der Brug, Janel O Johnson, Allissa Dillman, Mark Cookson, Cristina Moglia, Andrea Calvo, Gabriella Restagno, Gabriele Mora, Adriano Chiò

LRRK2 modulates vulnerability to mitochondrial dysfunction in Caenorhabditis elegans

LRRK2 调节秀丽隐杆线虫的线粒体功能障碍脆弱性

Shamol Saha, Maria D Guillily, Andrew Ferree, Joel Lanceta, Diane Chan, Joy Ghosh, Cindy H Hsu, Lilach Segal, Kesav Raghavan, Kunihiro Matsumoto, Naoki Hisamoto, Tomoki Kuwahara, Takeshi Iwatsubo, Landon Moore, Lee Goldstein, Mark Cookson, Benjamin Wolozin