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

Whole-genome sequencing reveals host factors underlying critical COVID-19

全基因组测序揭示了导致新冠肺炎重症的宿主因素

Kousathanas, Athanasios; Pairo-Castineira, Erola; Rawlik, Konrad; Stuckey, Alex; Odhams, Christopher A; Walker, Susan; Russell, Clark D; Malinauskas, Tomas; Wu, Yang; Millar, Jonathan; Shen, Xia; Elliott, Katherine S; Griffiths, Fiona; Oosthuyzen, Wilna; Morrice, Kirstie; Keating, Sean; Wang, Bo; Rhodes, Daniel; Klaric, Lucija; Zechner, Marie; Parkinson, Nick; Siddiq, Afshan; Goddard, Peter; Donovan, Sally; Maslove, David; Nichol, Alistair; Semple, Malcolm G; Zainy, Tala; Maleady-Crowe, Fiona; Todd, Linda; Salehi, Shahla; Knight, Julian; Elgar, Greg; Chan, Georgia; Arumugam, Prabhu; Patch, Christine; Rendon, Augusto; Bentley, David; Kingsley, Clare; Kosmicki, Jack A; Horowitz, Julie E; Baras, Aris; Abecasis, Goncalo R; Ferreira, Manuel A R; Justice, Anne; Mirshahi, Tooraj; Oetjens, Matthew; Rader, Daniel J; Ritchie, Marylyn D; Verma, Anurag; Fowler, Tom A; Shankar-Hari, Manu; Summers, Charlotte; Hinds, Charles; Horby, Peter; Ling, Lowell; McAuley, Danny; Montgomery, Hugh; Openshaw, Peter J M; Elliott, Paul; Walsh, Timothy; Tenesa, Albert; Fawkes, Angie; Murphy, Lee; Rowan, Kathy; Ponting, Chris P; Vitart, Veronique; Wilson, James F; Yang, Jian; Bretherick, Andrew D; Scott, Richard H; Hendry, Sara Clohisey; Moutsianas, Loukas; Law, Andy; Caulfield, Mark J; Baillie, J Kenneth

Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.

鉴定和验证了 GDF2 (BMP9) 中一种新的致病变异,该变异导致遗传性出血性毛细血管扩张症和肺动静脉畸形

Balachandar Srimmitha, Graves Tamara J, Shimonty Anika, Kerr Katie, Kilner Jill, Xiao Sihao, Slade Richard, Sroya Manveer, Alikian Mary, Curetean Emanuel, Thomas Ellen, McConnell Vivienne P M, McKee Shane, Boardman-Pretty Freya, Devereau Andrew, Fowler Tom A, Caulfield Mark J, Alton Eric W, Ferguson Teena, Redhead Julian, McKnight Amy J, Thomas Geraldine A, Aldred Micheala A, Shovlin Claire L

An online compendium of treatable genetic disorders

可治疗遗传疾病的在线汇编

Bick, David; Bick, Sarah L; Dimmock, David P; Fowler, Tom A; Caulfield, Mark J; Scott, Richard H

SARS-CoV-2 (COVID-19): What Do We Know About Children? A Systematic Review

SARS-CoV-2(COVID-19):我们对儿童了解多少?一项系统性综述

Mehta, Nisha S; Mytton, Oliver T; Mullins, Edward W S; Fowler, Tom A; Falconer, Catherine L; Murphy, Orla B; Langenberg, Claudia; Jayatunga, Wikum J P; Eddy, Danielle H; Nguyen-Van-Tam, Jonathan S

Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing

利用DNA测序预测对一线抗结核药物的敏感性

Allix-Béguec, Caroline; Arandjelovic, Irena; Bi, Lijun; Beckert, Patrick; Bonnet, Maryline; Bradley, Phelim; Cabibbe, Andrea M; Cancino-Muñoz, Irving; Caulfield, Mark J; Chaiprasert, Angkana; Cirillo, Daniela M; Clifton, David A; Comas, Iñaki; Crook, Derrick W; De Filippo, Maria R; de Neeling, Han; Diel, Roland; Drobniewski, Francis A; Faksri, Kiatichai; Farhat, Maha R; Fleming, Joy; Fowler, Philip; Fowler, Tom A; Gao, Qian; Gardy, Jennifer; Gascoyne-Binzi, Deborah; Gibertoni-Cruz, Ana-Luiza; Gil-Brusola, Ana; Golubchik, Tanya; Gonzalo, Ximena; Grandjean, Louis; He, Guangxue; Guthrie, Jennifer L; Hoosdally, Sarah; Hunt, Martin; Iqbal, Zamin; Ismail, Nazir; Johnston, James; Khanzada, Faisal M; Khor, Chiea C; Kohl, Thomas A; Kong, Clare; Lipworth, Sam; Liu, Qingyun; Maphalala, Gugu; Martinez, Elena; Mathys, Vanessa; Merker, Matthias; Miotto, Paolo; Mistry, Nerges; Moore, David A J; Murray, Megan; Niemann, Stefan; Omar, Shaheed V; Ong, Rick T-H; Peto, Tim E A; Posey, James E; Prammananan, Therdsak; Pym, Alexander; Rodrigues, Camilla; Rodrigues, Mabel; Rodwell, Timothy; Rossolini, Gian M; Sánchez Padilla, Elisabeth; Schito, Marco; Shen, Xin; Shendure, Jay; Sintchenko, Vitali; Sloutsky, Alex; Smith, E Grace; Snyder, Matthew; Soetaert, Karine; Starks, Angela M; Supply, Philip; Suriyapol, Prapat; Tahseen, Sabira; Tang, Patrick; Teo, Yik-Ying; Thuong, Thuong N T; Thwaites, Guy; Tortoli, Enrico; van Soolingen, Dick; Walker, A Sarah; Walker, Timothy M; Wilcox, Mark; Wilson, Daniel J; Wyllie, David; Yang, Yang; Zhang, Hongtai; Zhao, Yanlin; Zhu, Baoli