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

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, Myriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; de Sainte Agathe, Jean-Madeleine; Fuerte, Edith P Almanza; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stephanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Weirauch, Nathalie Bednark; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bramswig, Nuria C; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Buratti, Julien; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Conrad, Solène; Courtin, Thomas; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Denommé-Pichon, Anne-Sophie; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; Chehadeh, Salima El; 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; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Héron, Bénédicte; Héron, Delphine; Heulin, Mathilde; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Jousselin, Kevin; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Bricquir, Floriane Le; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian; Mansour-Hendili, Lamisse; Maraval, Julien; Mattausch, Carolin; 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, Valerie; Õunap, Katrin; Pais, Lynn S; Paluch, Robin; 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; Rupin, Mailys; Saugier-Veber, Pascale; Saneto, Russell; Sarrazin, Elisabeth; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir; Smol, Thomas; Sunyaev, Shamil; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylene; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; 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

Characterization of tumor evolution by functional clonality and phylogenetics in hepatocellular carcinoma

通过功能克隆性和系统发育学表征肝细胞癌的肿瘤演变

Kacar, Zeynep; Slud, Eric; Levy, Doron; Candia, Julián; Budhu, Anuradha; Forgues, Marshonna; Wu, Xiaolin; Raziuddin, Arati; Tran, Bao; Shetty, Jyoti; Pomyen, Yotsawat; Chaisaingmongkol, Jittiporn; Rabibhadana, Siritida; Pupacdi, Benjarath; Bhudhisawasdi, Vajarabhongsa; Lertprasertsuke, Nirush; Auewarakul, Chirayu; Sangrajrang, Suleeporn; Mahidol, Chulabhorn; Ruchirawat, Mathuros; Wang, Xin Wei

Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI

MRI脑白质高信号的表观遗传学和整合跨组学分析

Yang, Yunju; Knol, Maria J; Wang, Ruiqi; Mishra, Aniket; Liu, Dan; Luciano, Michelle; Teumer, Alexander; Armstrong, Nicola; Bis, Joshua C; Jhun, Min A; Li, Shuo; Adams, Hieab H H; Aziz, Nasir Ahmad; Bastin, Mark E; Bourgey, Mathieu; Brody, Jennifer A; Frenzel, Stefan; Gottesman, Rebecca F; Hosten, Norbert; Hou, Lifang; Kardia, Sharon L R; Lohner, Valerie; Marquis, Pascale; Maniega, Susana Muñoz; Satizabal, Claudia L; Sorond, Farzaneh A; Valdés Hernández, Maria C; van Duijn, Cornelia M; Vernooij, Meike W; Wittfeld, Katharina; Yang, Qiong; Zhao, Wei; Boerwinkle, Eric; Levy, Daniel; Deary, Ian J; Jiang, Jiyang; Mather, Karen A; Mosley, Thomas H; Psaty, Bruce M; Sachdev, Perminder S; Smith, Jennifer A; Sotoodehnia, Nona; DeCarli, Charles S; Breteler, Monique M B; Ikram, M Arfan; Grabe, Hans J; Wardlaw, Joanna; Longstreth, W T; Launer, Lenore J; Seshadri, Sudha; Debette, Stephanie; Fornage, Myriam

A machine learning algorithm with subclonal sensitivity reveals widespread pan-cancer human leukocyte antigen loss of heterozygosity

具有亚克隆敏感性的机器学习算法揭示了泛癌人类白细胞抗原杂合性缺失

Rachel Marty Pyke, Dattatreya Mellacheruvu, Steven Dea, Charles W Abbott, Lee McDaniel, Devayani P Bhave, Simo V Zhang, Eric Levy, Gabor Bartha, John West, Michael P Snyder, Richard O Chen, Sean Michael Boyle

Global Health Impacts for Economic Models of Climate Change: A Systematic Review and Meta-Analysis

气候变化经济模型对全球健康的影响:系统评价和荟萃分析

Cromar, Kevin R; Anenberg, Susan C; Balmes, John R; Fawcett, Allen A; Ghazipura, Marya; Gohlke, Julia M; Hashizume, Masahiro; Howard, Peter; Lavigne, Eric; Levy, Karen; Madrigano, Jaime; Martinich, Jeremy A; Mordecai, Erin A; Rice, Mary B; Saha, Shubhayu; Scovronick, Noah C; Sekercioglu, Fatih; Svendsen, Erik R; Zaitchik, Benjamin F; Ewart, Gary

Variable Genomic Landscapes of Advanced Melanomas with Heavy Pigmentation

重度色素沉着晚期黑色素瘤的可变基因组图谱

Huang, Richard S P; Tse, Julie Y; Harries, Lukas; Graf, Ryon P; Lin, Douglas I; Murugesan, Karthikeyan; Hiemenz, Matthew C; Parimi, Vamsi; Janovitz, Tyler; Decker, Brennan; Severson, Eric; Levy, Mia A; Ramkissoon, Shakti H; Elvin, Julia A; Ross, Jeffrey S; Williams, Erik A

Exploring the potential impact of nutritionally actionable genetic polymorphisms on idiopathic male infertility: a review of current evidence

探讨营养可干预的基因多态性对特发性男性不育症的潜在影响:现有证据综述

Mahbouli, Sinda; Dupont, Charlotte; Elfassy, Yaelle; Lameignère, Eric; Levy, Rachel

Lassa fever clinical course and setting a standard of care for future randomized trials: A protocol for a cohort study of Lassa-infected patients in Nigeria (LASCOPE)

拉沙热临床病程及为未来随机试验制定护理标准:尼日利亚拉沙感染患者队列研究方案(LASCOPE)

Duvignaud, Alexandre; Jaspard, Marie; Etafo, Ijeoma Chukwudumebi; Serra, Béatrice; Abejegah, Chukwuyem; Gabillard, Delphine; Doutchi, Mahamadou; Alabi, Josephine Funmilola; Adedokun, Moses Adeniyi; Akinpelu, Adewale Oladayo; Oyegunle, Oyebimpe Ope; Etafo, Johnson; Dede, Ayoleyi Omowunmi; Onyechi, Macdonald Nonso; Ireneh, Moronke Uzuajemeh; Gbenga-Ayeni, Olufunke; Fadiminiyi, Kehinde Gbemisola; Ehigbor, Patience Iziegbe; Ouattara, Eric; Levy-Marchal, Claire; Karcher, Sophie; N'guessan-Koffi, Larissa; Ahyi, Irmine; Amani, Elvis; Diabaté, Mamoudou; Siloué, Bertine; Schaeffer, Justine; Augier, Augustin; Ogbaini-Emovon, Ephraim; Salam, Alex Paddy; Horby, Peter; Ahmed, Liasu Adeagbo; Günther, Stephan; Adedosu, Akinola Nelson; Anglaret, Xavier; Ayodeji, Oladele Oluwafemi; Malvy, Denis

The Use of Non-invasive Vagus Nerve Stimulation to Treat Respiratory Symptoms Associated With COVID-19: A Theoretical Hypothesis and Early Clinical Experience

利用非侵入性迷走神经刺激治疗新冠肺炎相关呼吸道症状:理论假设与早期临床经验

Staats, Peter; Giannakopoulos, Georgios; Blake, Justyna; Liebler, Eric; Levy, Robert M