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

Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity

探讨人工智能驱动的变异优先级排序与人工审核在先天性免疫缺陷疾病中的优势和局限性

Moushib, Laith Ibrahim; Moreno-Ruiz, Nerea; Martín-Nalda, Andrea; Rivière, Jacques G; Urban, Blanca; Dieli-Crimi, Romina; Perurena-Prieto, Janire; Aguiló-Cucurull, Aina; Pérez-Estévez, Elena; Solanich, Xavier; Soler-Palacín, Pere; Colobran, Roger; Batlle-Masó, Laura

Transmission of F12-related hereditary angioedema through a sperm donor

通过精子捐献者传播F12相关遗传性血管性水肿

Marquès, Lluís; Batlle-Masó, Laura; Alcoceba, Eva; Lara, Silvia; Aguiló-Cucurull, Aina; Gil-Serrano, Johana; Guilarte, Mar; Colobran, Roger

De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency

原发性或遗传性:C1抑制剂缺乏引起的遗传性血管性水肿中的性染色体嵌合现象

Batlle-Masó, Laura; Perurena-Prieto, Janire; Viñas-Giménez, Laura; Aguiló-Cucurull, Aina; Fernández-Álvarez, Paula; Gil-Serrano, Johana; Guilarte, Mar; Colobran, Roger

Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement

CD137缺陷的体细胞回复与Epstein-Barr病毒控制和临床改善相关

Batlle-Masó, Laura; Padrosa Pulido, Joan; Esteve-Codina, Anna; Perurena-Prieto, Janire; Franco-Jarava, Clara; Aguiló-Cucurull, Aina; Martínez-Gallo, Mónica; Cea, Cristina; Rodriguez-Aliberas, Marta; Soler-Palacín, Pere; Casals, Ferran; Redondo Velao, Sara; Torrent, Montserrat; Alsina, Laia; Colobran, Roger

OAS1 and OAS3 genetic variants enhance inflammatory responses to SARS-CoV-2.

OAS1 和 OAS3 基因变异增强了对 SARS-CoV-2 的炎症反应。

DeDiego Marta L, López-Fernández-Sobrino Raúl, Pedragosa Jordi, López-García Darío, Nogales Aitor, Durbán Jordi, Cardona Fernando, Llucià-Carol Laia, Rivero Vanessa, Vazquez-Utrilla Paula, Sanchez-Grande Laura Palomo, Cobo Miriam, Lloret Lara, Márquez-Kisinousky Leonardo, Ruiz-Jaén Francisca, Lozano Francisco, Sibila Oriol, Faner Rosa, Castro Pedro, Domingo Carlos, Robles Verónica, Bedini Josep L, Rico Verónica, Aguero Daiana, Soriano Alex, Nalda Andrea Martín, Martínez Alba Parra, Colobran Roger, Soler-Palacín Pere, Serra-Llovich Alexandre, Dietl Beatriz, Arranz M Jesús, Dalmau David, Signes-Costa Jaime, Gil-Carbonell Joan, Todolí José, Martínez Jacobo, Rojo Silvia, Fiz-López Aida, Arribas Elisa, Cal-Sabater Paloma, Bernado David, Vogel Marina, Wiemann Stefan, Abolhassani Hassan, Pan-Hammarström Qiang, Pujol Aurora, Su Helen C, Lee Danyel, Zhang Shen-Ying, Casanova Jean-Laurent, Fernández-Cadenas Israel, Pérez-Tur Jordi, Planas Anna M

Pharmacokinetic Characterization of Rituximab in Patients with Glomerular Diseases

利妥昔单抗在肾小球疾病患者中的药代动力学特征

Larrosa-García, María; Agraz Pamplona, Irene; Sanz Martínez, María Teresa; Bury Macías, Roxana Paola; Martínez Gallo, Mónica; Colobran, Roger; García García, Sonia; Soler, María José; Hernández González, Manuel; Montoro Ronsano, José Bruno

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

更正:罕见的I型干扰素免疫基因功能丧失预测变异与危及生命的COVID-19相关。

Matuozzo, Daniela; Talouarn, Estelle; Marchal, Astrid; Zhang, Peng; Manry, Jeremy; Seeleuthner, Yoann; Zhang, Yu; Bolze, Alexandre; Chaldebas, Matthieu; Milisavljevic, Baptiste; Gervais, Adrian; Bastard, Paul; Asano, Takaki; Bizien, Lucy; Barzaghi, Federica; Abolhassani, Hassan; Tayoun, Ahmad Abou; Aiuti, Alessandro; Darazam, Ilad Alavi; Allende, Luis M; Alonso-Arias, Rebeca; Arias, Andrés Augusto; Aytekin, Gokhan; Bergman, Peter; Bondesan, Simone; Bryceson, Yenan T; Bustos, Ingrid G; Cabrera-Marante, Oscar; Carcel, Sheila; Carrera, Paola; Casari, Giorgio; Chaïbi, Khalil; Colobran, Roger; Condino-Neto, Antonio; Covill, Laura E; Delmonte, Ottavia M; Zein, Loubna El; Flores, Carlos; Gregersen, Peter K; Gut, Marta; Haerynck, Filomeen; Halwani, Rabih; Hancerli, Selda; Hammarström, Lennart; Hatipoğlu, Nevin; Karbuz, Adem; Keles, Sevgi; Kyheng, Christèle; Leon-Lopez, Rafael; Franco, Jose Luis; Mansouri, Davood; Martinez-Picado, Javier; Akcan, Ozge Metin; Migeotte, Isabelle; Morange, Pierre-Emmanuel; Morelle, Guillaume; Martin-Nalda, Andrea; Novelli, Giuseppe; Novelli, Antonio; Ozcelik, Tayfun; Palabiyik, Figen; Pan-Hammarström, Qiang; de Diego, Rebeca Pérez; Planas-Serra, Laura; Pleguezuelo, Daniel E; Prando, Carolina; Pujol, Aurora; Reyes, Luis Felipe; Rivière, Jacques G; Rodriguez-Gallego, Carlos; Rojas, Julian; Rovere-Querini, Patrizia; Schlüter, Agatha; Shahrooei, Mohammad; Sobh, Ali; Soler-Palacin, Pere; Tandjaoui-Lambiotte, Yacine; Tipu, Imran; Tresoldi, Cristina; Troya, Jesus; van de Beek, Diederik; Zatz, Mayana; Zawadzki, Pawel; Al-Muhsen, Saleh Zaid; Alosaimi, Mohammed Faraj; Alsohime, Fahad M; Baris-Feldman, Hagit; Butte, Manish J; Constantinescu, Stefan N; Cooper, Megan A; Dalgard, Clifton L; Fellay, Jacques; Heath, James R; Lau, Yu-Lung; Lifton, Richard P; Maniatis, Tom; Mogensen, Trine H; von Bernuth, Horst; Lermine, Alban; Vidaud, Michel; Boland, Anne; Deleuze, Jean-François; Nussbaum, Robert; Kahn-Kirby, Amanda; Mentre, France; Tubiana, Sarah; Gorochov, Guy; Tubach, Florence; Hausfater, Pierre; Meyts, Isabelle; Zhang, Shen-Ying; Puel, Anne; Notarangelo, Luigi D; Boisson-Dupuis, Stephanie; Su, Helen C; Boisson, Bertrand; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Zhang, Qian; Abel, Laurent; Cobat, Aurélie

Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study

儿童多系统炎症综合征(MIS-C)的表观遗传学特征:一项多中心回顾性研究

Davalos, Veronica; García-Prieto, Carlos A; Ferrer, Gerardo; Aguilera-Albesa, Sergio; Valencia-Ramos, Juan; Rodríguez-Palmero, Agustí; Ruiz, Montserrat; Planas-Serra, Laura; Jordan, Iolanda; Alegría, Iosune; Flores-Pérez, Patricia; Cantarín, Verónica; Fumadó, Victoria; Viadero, Maria Teresa; Rodrigo, Carlos; Méndez-Hernández, Maria; López-Granados, Eduardo; Colobran, Roger; Rivière, Jacques G; Soler-Palacín, Pere; Pujol, Aurora; Esteller, Manel

Genome-wide detection of human variants that disrupt intronic branchpoints

全基因组检测破坏内含子分支点的人类变异

Zhang, Peng; Philippot, Quentin; Ren, Weicheng; Lei, Wei-Te; Li, Juan; Stenson, Peter D; Palacín, Pere Soler; Colobran, Roger; Boisson, Bertrand; Zhang, Shen-Ying; Puel, Anne; Pan-Hammarström, Qiang; Zhang, Qian; Cooper, David N; Abel, Laurent; Casanova, Jean-Laurent

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

存在I型干扰素自身抗体的人,新冠肺炎死亡风险要高得多,且与年龄相关。

Manry, Jérémy; Bastard, Paul; Gervais, Adrian; Le Voyer, Tom; Rosain, Jérémie; Philippot, Quentin; Michailidis, Eleftherios; Hoffmann, Hans-Heinrich; Eto, Shohei; Garcia-Prat, Marina; Bizien, Lucy; Parra-Martínez, Alba; Yang, Rui; Haljasmägi, Liis; Migaud, Mélanie; Särekannu, Karita; Maslovskaja, Julia; de Prost, Nicolas; Tandjaoui-Lambiotte, Yacine; Luyt, Charles-Edouard; Amador-Borrero, Blanca; Gaudet, Alexandre; Poissy, Julien; Morel, Pascal; Richard, Pascale; Cognasse, Fabrice; Troya, Jesús; Trouillet-Assant, Sophie; Belot, Alexandre; Saker, Kahina; Garçon, Pierre; Rivière, Jacques G; Lagier, Jean-Christophe; Gentile, Stéphanie; Rosen, Lindsey B; Shaw, Elana; Morio, Tomohiro; Tanaka, Junko; Dalmau, David; Tharaux, Pierre-Louis; Sene, Damien; Stepanian, Alain; Mégarbane, Bruno; Triantafyllia, Vasiliki; Fekkar, Arnaud; Heath, James R; Franco, José Luis; Anaya, Juan-Manuel; Solé-Violán, Jordi; Imberti, Luisa; Biondi, Andrea; Bonfanti, Paolo; Castagnoli, Riccardo; Delmonte, Ottavia M; Zhang, Yu; Snow, Andrew L; Holland, Steven M; Biggs, Catherine M; Moncada-Vélez, Marcela; Arias, Andrés Augusto; Lorenzo, Lazaro; Boucherit, Soraya; Anglicheau, Dany; Planas, Anna M; Haerynck, Filomeen; Duvlis, Sotirija; Ozcelik, Tayfun; Keles, Sevgi; Bousfiha, Ahmed A; El Bakkouri, Jalila; Ramirez-Santana, Carolina; Paul, Stéphane; Pan-Hammarström, Qiang; Hammarström, Lennart; Dupont, Annabelle; Kurolap, Alina; Metz, Christine N; Aiuti, Alessandro; Casari, Giorgio; Lampasona, Vito; Ciceri, Fabio; Barreiros, Lucila A; Dominguez-Garrido, Elena; Vidigal, Mateus; Zatz, Mayana; van de Beek, Diederik; Sahanic, Sabina; Tancevski, Ivan; Stepanovskyy, Yurii; Boyarchuk, Oksana; Nukui, Yoko; Tsumura, Miyuki; Vidaur, Loreto; Tangye, Stuart G; Burrel, Sonia; Duffy, Darragh; Quintana-Murci, Lluis; Klocperk, Adam; Kann, Nelli Y; Shcherbina, Anna; Lau, Yu-Lung; Leung, Daniel; Coulongeat, Matthieu; Marlet, Julien; Koning, Rutger; Reyes, Luis Felipe; Chauvineau-Grenier, Angélique; Venet, Fabienne; Monneret, Guillaume; Nussenzweig, Michel C; Arrestier, Romain; Boudhabhay, Idris; Baris-Feldman, Hagit; Hagin, David; Wauters, Joost; Meyts, Isabelle; Dyer, Adam H; Kennelly, Sean P; Bourke, Nollaig M; Halwani, Rabih; Sharif-Askari, Fatemeh Saheb; Dorgham, Karim; Sallette, Jérôme; Sedkaoui, Souad Mehlal; AlKhater, Suzan; Rigo-Bonnin, Raúl; Morandeira, Francisco; Roussel, Lucie; Vinh, Donald C; Erikstrup, Christian; Condino-Neto, Antonio; Prando, Carolina; Bondarenko, Anastasiia; Spaan, András N; Gilardin, Laurent; Fellay, Jacques; Lyonnet, Stanislas; Bilguvar, Kaya; Lifton, Richard P; Mane, Shrikant; Anderson, Mark S; Boisson, Bertrand; Béziat, Vivien; Zhang, Shen-Ying; Andreakos, Evangelos; Hermine, Olivier; Pujol, Aurora; Peterson, Pärt; Mogensen, Trine H; Rowen, Lee; Mond, James; Debette, Stéphanie; de Lamballerie, Xavier; Burdet, Charles; Bouadma, Lila; Zins, Marie; Soler-Palacin, Pere; Colobran, Roger; Gorochov, Guy; Solanich, Xavier; Susen, Sophie; Martinez-Picado, Javier; Raoult, Didier; Vasse, Marc; Gregersen, Peter K; Piemonti, Lorenzo; Rodríguez-Gallego, Carlos; Notarangelo, Luigi D; Su, Helen C; Kisand, Kai; Okada, Satoshi; Puel, Anne; Jouanguy, Emmanuelle; Rice, Charles M; Tiberghien, Pierre; Zhang, Qian; Casanova, Jean-Laurent; Abel, Laurent; Cobat, Aurélie