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

Deciphering the etiology of the 2024 outbreak of undiagnosed febrile illness in Panzi, Democratic Republic of the Congo

破译2024年刚果民主共和国潘齐地区未确诊发热性疾病暴发的病因

Wawina-Bokalanga, Tony; Makangara-Cigolo, Jean-Claude; Ola-Mpumbe, Rilia; Lokilo, Emmanuel; Mwakisenda-Tshakotsho, François; Delphine, Mbonga; Kahindo, Immaculée; Tshonaka-Nkololo, Alphonse; Vakaniaki, Emmanuel Hasivirwe; Loman, Nicholas; Houben, Sarah; Lumembe-Numbi, Raphael; Kinganda-Lusamaki, Eddy; Ponga-Museme, Ange; Mukota-Nungu, Yero; Kumar, Anuj; Meris, Matondo; Wilkinson, Sam; Colquhoun, Raquel; Kenye, Kelly-Michel; Akil-Bandali, Prince; Amuri-Aziza, Adrienne; Martinez, Gustavo Sganzerla; Kelvin, David J; Dijkman, Ronald; Hensley, Lisa E; Kasita, Cris; Kafua-Wemba, Franck; Mwamba, Dieudonné; Subissi, Lorenzo; Hoff, Nicole A; Peeters, Martine; Rimoin, Anne W; Mokili, John L; Lunguya-Metila, Octavie; Nkwembe, Edith; Rambaut, Andrew; Liesenborghs, Laurens; Low, Nicola; Kindrachuk, Jason; Vercauteren, Koen; Edwards, Robert; Kelly, Jenna N; Mbala-Kingebeni, Placide; Ahuka-Mundeke, Steve; Mumba, Dieudonné; Muyembe-Tamfum, Jean-Jacques

Rare genetic variants confer a high risk of ADHD and implicate neuronal biology

罕见基因变异会增加患注意力缺陷多动障碍(ADHD)的风险,并与神经元生物学有关。

Demontis, Ditte; Duan, Jinjie; Hsu, Yu-Han H; Pintacuda, Greta; Grove, Jakob; Nielsen, Trine Tollerup; Thirstrup, Janne; Martorana, Makayla; Botts, Travis; Satterstrom, F Kyle; Bybjerg-Grauholm, Jonas; Tsai, Jason H Y; Glerup, Simon; Hoogman, Martine; Buitelaar, Jan; Klein, Marieke; Ziegler, Georg C; Jacob, Christian; Grimm, Oliver; Bayas, Maximilian; Kobayashi, Nene F; Kittel-Schneider, Sarah; Lesch, Klaus-Peter; Franke, Barbara; Reif, Andreas; Agerbo, Esben; Werge, Thomas; Nordentoft, Merete; Mors, Ole; Mortensen, Preben Bo; Lage, Kasper; Daly, Mark J; Neale, Benjamin M; Børglum, Anders D

Prospective Validation of Circulating Tumor DNA Measurable Residual Disease After First-Line Therapy in Large B-Cell Lymphoma

一线治疗后大B细胞淋巴瘤循环肿瘤DNA可测量残留病灶的前瞻性验证

Wang, Steven; Nijland, Marcel; Strobbe, Leonie; Oosterveld, Margriet; Boersma, Rinske; Koene, Harry; Klerk, Clara; de Jongh, Eva; Koster, Ad; Pruijt, Hans; van der Poel, Marjolein; van Werkhoven, Erik; Zanders, Helma; Dinmohamed, Avinash; Pegtel, Michiel; Meek, Stephanie; Stowell, Sierra Love; Warinske, Hayley; Alizadeh, Ash A; Kurtz, David M; Chamuleau, Martine E D

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

Additive-specific modulation of non-classical nucleation pathways

添加剂对非经典成核途径的特异性调控

Baken, Annet; Fernandez-Martinez, Alejandro; Lanson, Martine; Aretxabaleta, Xavier M; Manzano, Hegoi; Kellermeier, Matthias; Di Michiel, Marco; Van Driessche, Alexander E S

Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension

Lucerastat,一种用于治疗法布里病的口服药物:一项关键性随机3期研究及其开放标签扩展研究的结果

Nordbeck, Peter; Goker-Alpan, Ozlem; Bernat, John A; Germain, Dominique P; Giraldo, Pilar; Jovanovic, Ana; Kimonis, Virginia; Nicholls, Kathleen; Rockman-Greenberg, Cheryl; Schiffmann, Raphael; Thomas, Mark; Tylki-Szymanska, Anna; Wallace, Eric; Welford, Richard W D; West, Michael L; Clozel, Martine; Frey, Aline; Trokan, Luba; Mueller, Markus S; Vogler, Markus; Wanner, Christoph; Hughes, Derralynn

PHIP suppresses NuRD to enable the growth of SWI/SNF-mutant cancers

PHIP抑制NuRD,从而促进SWI/SNF突变型癌症的生长。

Malone, Hayden A; Myers, Jacquelyn A; Gruss, Emma G; Morgan, Marc A; Friske, Jake D; McCarty, Tabitha C; Navarro, John J; Robinson, Sarah; Halliburton, Rebecca L; Kietlinska, Sandra J; De Luna Vitorino, Francisca N; Hansen, Baranda S; Pruett-Miller, Shondra M; Garcia, Benjamin A; Roussel, Martine F; Partridge, Janet F; Roberts, Charles W M

A multi-ancestry genetic reference for the Quebec population

魁北克人口的多祖先遗传参考

McClelland, Peyton; Femerling, Georgette; Laflamme, Rose; Mejia-Garcia, Alejandro; Sayahian Dehkordi, Mohadese; Xiao, Hongyu; Diaz-Papkovich, Alex; Pelletier, Justin; Grenier, Jean-Christophe; Lo, Ken Sin; Anderson-Trocmé, Luke; Bellavance, Justin; Chapdelaine, Vincent; Gagnon, Geneviève; De Mori, Annelie; Martinez, Gerardo; Mohler, Kristen; de Malliard, Thibault; Labbé, Catherine; Labrecque, Marjorie; Montpetit, Alexandre; Spiegelman, Dan; Rouleau, Guy A; Théroux, Jean-François; Zhou, Hufeng; Girard, Simon L; Hussin, Julie G; Laberge, Anne-Marie; Bhérer, Claude; Tetreault, Martine; Gagliano Taliun, Sarah A; Taliun, Daniel; Gravel, Simon; Lettre, Guillaume

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

剪接因子基因SF3B1的新生变异与神经发育障碍相关。

Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie-Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H; Glass, Ian A; Ward, Scott; Campeau, Philippe M; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G; Lupski, James R; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G

The evolution of pediatric transgender healthcare in Flanders: Trends in referrals, intakes and gender-affirming interventions over the last 15 years

弗兰德斯地区儿童跨性别医疗保健的发展:过去15年转诊、接诊和性别肯定干预措施的趋势

Ciancia, Silvia; Bruneel, Laura; Van Schuylenbergh, Judith; Klink, Daniel; Dhondt, Karlien; Heyse, Robin; Motmans, Joz; Cools, Martine