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

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Miriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Jousselin, Kevin; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; Paluch, Robin; de Sainte Agathe, Jean-Madeleine; Almanza Fuerte, Edith P; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stéphanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Bednarek-Weirauch, Nathalie; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Briand-Suleau, Audrey; Buratti, Julien; Celse, Tristan; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Colson, Cindy; Conrad, Solène; Courtin, Thomas; Creveaux, Isabelle; Cullier, Anne-Charlotte; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Demeer, Bénédicte; Denommé-Pichon, Anne-Sophie; Diekhoff, Philine; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; El Chehadeh, Salima; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Haack, Tobias B; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Herget, Theresia; Héron, Bénédicte; Héron, Delphine; Herwig, Johanna; Heulin, Mathilde; Holling, Tess; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Kutsche, Kerstin; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Le Bricquir, Floriane; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian M W; Mansour-Hendili, Lamisse; Maraval, Julien; Marquardt, Iris; Mattausch, Carolin; Mercier, Sandra; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valérie; Olivieri, Simone; Õunap, Katrin; Pais, Lynn S; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Ruault, Valentin; Rupin-Mas, Maïlys; Saugier-Veber, Pascale; Saunier, Aline; Saneto, Russell; Sarrazin, Elisabeth; Sarret, Catherine; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir B; Spranger, Stephanie; Smol, Thomas; Sturm, Marc; Sunyaev, Shamil R; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylène; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Van-Gils, Julien; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Wagner, Jan; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Bramswig, Nuria C; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

Residual lung abnormality following COVID-19 hospitalisation is characterised by biomarkers of epithelial injury.

新冠肺炎住院治疗后遗留的肺部异常以上皮损伤的生物标志物为特征。

Stewart Iain, Jacob Joseph, Porter Joanna C, Liu Bin, Tatler Amanda L, Gomez Nancy, Pugh Matthew R, John Alison E, Allen Richard J, Blaikley John F, Chaudhuri Nazia, Denneny Emma, Fabbri Laura, George Peter M, Guillen-Guio Beatriz, Gooptu Bibek, Hall Ian P, Ho Ling Pei, Jarrold Ian, Johnson Simon, Jones Mark G, Khan Fasihul, Mehta Puja, Mitchell Jane, Molyneaux Philip L, Pearl John E, Piper Hanley Karen, Platé Manuela, Quinn Valerie, Rivera-Ortega Pilar, Saunders Laura C, Smith David J F, Spears Mark, Spencer Lisa G, Stanel Stefan C, Thompson A A Roger, Walsh Simon, Wild Jim M, Wootton Dan G, Docherty Annemarie B, Gleeson Fergus, Greenhalf William, Harrison Ewen M, Lone Nazir, Quint Jennifer, Maslova Anastasia, Pohl Moritz, Stephens Adam, Young Simon, Singapuri Amisha, Shikotra Aarti, Sereno Marco, Saunders Ruth M, Richardson Matthew, Raman Betty, Poinasamy Krisnah, McAuley Hamish J C, Marks Michael, Leavy Olivia C, Houchen-Wolloff Linzy, Horsley Alex, Harris Victoria C, Greening Neil, Evans Rachael A, Elneima Omer, Chalmers James D, Brightling Christopher E, Chambers Rachel C, Wain Louise V, Jenkins R Gisli

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

MDGA2纯合功能缺失变异会导致发育性和癫痫性脑病。

Morsy, Heba; Kim, Hyeonho; Jang, Gyubin; Zaki, Maha S; Severino, Mariasavina; Abdelrazek, Ibrahim M; Hussien, Haytham; Self, Eleanor; Albaradie, Raidah Saleem; Bakur, Khadijah; Firoozfar, Zahra; Efthymiou, Stephanie; Noureldeen, Mahmoud M; Nabil, Amira; Alvi, Javeria Raza; Molavi, Fateme; Alavi, Shahryar; Alibakhshi, Reza; Topcu, Vehap; Mancilar, Hanifenur; Uctepe, Eyyup; Yesilyurt, Ahmet; Aldhalaan, Hesham; Showki Tous, Ehab Salah; Alhaddad, Bader; Elbendary, Hasnaa M; Scardamaglia, Annarita; Murphy, David; Yépez, Vicente A; Gagneur, Julien; Omar, Tarek I; Abd Elmaksoud, Marwa; Vandrovocova, Jana; Abdalla, Ebtessam; Reilly, Mary M; Sultan, Tipu; Alkuraya, Fowzan S; Gleeson, Joseph G; Um, Ji Won; Houlden, Henry; Ko, Jaewon; Maroofian, Reza

IFN-γ-induced trained immunity enhances killing of priority pathogens in healthy and genetically vulnerable individuals.

IFN-γ诱导的训练免疫可增强健康个体和遗传易感个体对重点病原体的杀灭作用。

Murphy Dearbhla M, Batten Isabella, O'Farrell Aoife, Carlile Simon R, O'Rourke Sinead A, Court Chloe, Morris Brenda, Leisching Gina, Jameson Gráinne, Connolly Sarah A, Dyer Adam H, McGrath John P, McNally Emma, Sandby-Thomas Olivia, Yennemadi Anjali, Finlay Conor M, Cheallaigh Clíona Ní, Dunne Jean, Maoldomhnaigh Cilian Ó, Gleeson Laura E, Dunne Aisling, Bourke Nollaig, van Crevel Reinout, Cox Donal J, Conlon Niall, Raj Arjun, McLoughlin Rachel M, Keane Joseph, Basdeo Sharee A

Aggressiveness-guided nodule management for lung cancer screening in Europe-justification for follow-up intervals and definition of growth

欧洲肺癌筛查中基于侵袭性指导的结节管理——随访间隔的合理性及生长定义的界定

Prokop, Mathias; Schaefer-Prokop, Cornelia; Jacobs, Colin; Snoeckx, Annemiek; Biederer, Jürgen; Frauenfelder, Thomas; Gleeson, Fergus; Kauczor, Hans-Ulrich; Parkar, Anagha P; Vliegenthart, Rozemarijn; Revel, Marie-Pierre; Silva, Mario; Prosch, Helmut

Lung cancer screening with low-dose CT: definition of positive, indeterminate, and negative screen results. A nodule management recommendation from the European Society of Thoracic Imaging

低剂量CT肺癌筛查:阳性、不确定和阴性筛查结果的定义。欧洲胸部影像学会的结节管理建议

Snoeckx, Annemiek; Silva, Mario; Prosch, Helmut; Biederer, Jürgen; Frauenfelder, Thomas; Gleeson, Fergus; Jacobs, Colin; Kauczor, Hans-Ulrich; Parkar, Anagha P; Schaefer-Prokop, Cornelia; Prokop, Mathias; Revel, Marie-Pierre

Globalization and health in an emerging new world order

全球化与新兴世界秩序下的健康

Labonté, Ronald; Gleeson, Deborah; Joarder, Taufique; Paremoer, Lauren; Storeng, Katerini; van de Pas, Remco

The PRAGMATIC pathway - PRostate cancer diAGnosis and MAnagement Triage In Clinical care

实用路径——前列腺癌临床诊断和管理分诊

Sharma, Abhishek; Campbell, Teresa; Kanabar, Sagar; Soanes, Hannah; Sathanapally, Ganesh; Bates, Anthony; John, Rincy; Adams, Charlotte; Brassill, Aisling; Lennon, Bryony; Sinha, Sanjay; Flaxman, Louise; von Hasseln, Vanessa; Camilleri, Philip; Sabharwal, Ami; Charlton, Philip; Andrade, Gerard; Tuthill, Mark; Protheroe, Andrew; Lamb, Alastair D; Leslie, Tom; Leiblich, Aaron; Lopez, Francisco; Verrill, Clare; Gleeson, Fergus; MacPherson, Ruth; Hamdy, Freddie C; Bell, Richard; Bryant, Richard J

Validation of a blood-based autoantibody test to assess lung cancer risk in 4-30 mm pulmonary nodules: a retrospective pooled analysis of four cohort studies

验证一种基于血液的自身抗体检测方法在评估4-30毫米肺结节肺癌风险中的有效性:一项对四项队列研究的回顾性汇总分析

Pitcher, Trevor J; Long, Kathryn J; Kammer, Michael N; Schuldheisz, Sandra; Bajantri, Bharat; Gleeson, Tammy; Zanchi, Dragos; Bansal, Sandeep; Yuhico, Luke; Peek, Laura J; Jett, James R; Nair, Viswam S; Silvestri, Gerard A

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants

拓展阿拉扎米综合征的表型和免疫学图谱:来自7例LARP7基因变异新患者的证据

Sharaf-Eldin, Wessam; Ghorab, Raghda M; Rafat, Karima; Mahmoud, Heba; Hassib, Nehal; Alahlafi, Abdelaziz; Maroofian, Reza; Gleeson, Joseph G; Essawi, Mona; Zaki, Maha S