Browsing by Author Pujol, Aurora
Showing results 1 to 13 of 13
| Issue Date | Title | Author(s) |
|---|---|---|
| 16-Sep-2022 | Autoantibodies against type I IFNs in patients with critical influenza pneumonia | Zhang, Qian; Pizzorno, Andrés; Miorin, Lisa; Bastard, Paul; Gervais, Adrian; Le Voyer, Tom; Bizien, Lucy; Manry, Jeremy; Rosain, Jérémie; Philippot, Quentin; Goavec, Kelian; Perlin, David S.; Queromes, Gregory; Anderson, Mark S.; Resnick, Igor; Pesole, Graziano; Su, Helen C.; Vanderbeke, Lore; Hagin, David; Jeanne, Michel; Carratalà, Jordi; Trouillet Assant, Sophie; Desai, Murkesh; Ferres, Marcela; Sánchez Céspedes, Javier; Perroquin, Magali; Ng, Lisa F.P.; Abou Tayoun, Ahmad; Le Corre, Nicole; Snow, Andrew L.; Temel, Şehime Gülsün; Tsiodras, Sotirios; Tzourio, Christophe; Merino Díaz, Laura; Coeuret Pellicer, Mireille; Notarangelo, Luigi D.; Javouhey, Etienne; Turvey, Stuart E.; Covid Human Genetic Effort; Rombauts, Alexander; Zatz, Mayana; Uddin, K.m. Furkan; Kisand, Kai; Gallian, Pierre; Fievet, Nathalie; Palomo, Virginia; Jarvis, Erich D.; Rodríguez de Castro, Felipe; Ferreres, José; Flaig, Amandine; Pujol, Aurora; Cognasse, Fabrice; Sancho Shimizu, Vanessa; Tiberghien, Pierre; Reipi Inf Working Group; Nadif, Rachel; Hanna, Suhair; Seppänen, Mikko R.J.; Constances Cohort; Goldberg, Marcel; Brodin, Petter; Andreakos, Evangelos; Le Got, Stéphane; Ozguler, Anna; Quenot, Jean Pierre; García Sastre, Adolfo; Novelli, Antonio; Cordero, Elisa; Colomb, Benoit; Särekannu, Karita; Cupic, Anastasija; Mehlal Sedkaoui, Souad; Sallette, Jérôme; Hernu, Romain; Bustamante, Carlos D.; Lina, Bruno; Constantinescu, Stefan N.; Halwani, Rabih; Casalegno, Jean Sebastien; Schwebel, Carole; Salamanca Rivera, Celia; Aiuti, Alessandro; 3C-Dijon Study; Tangye, Stuart G.; Dalgard, Clifton L.; Retamar Gentil, Pilar; Debette, Stéphanie; Hamzeh Cognasse, Hind; Belot, Alexandre; Abel, Laurent; Soler Palacín, Pere; Abad Arranz, Maria; Aguilar Guisado, Manuela; Meyts, Isabelle; Casanova, Jean-Laurent; González Granado, Luis Ignacio; Butte, Manish J.; Itan, Yuval; Haerynck, Filomeen; Escoresca Ortega, Ana; Morio, Tomohiro; Padey, Blandine; Niubó, Jordi; Gallardo Ríos, Rafaela; Lau, Yu-lung; Triantafyllia, Vasiliki; Briones, Marisa; Saker, Kahina; Richard, Pascale; Flores, Carlos; Drolet, Beth A.; Espinosa Padilla, Sara; Wauters, Joost; Peigue Lafeuille, Helene; Valiente, Adoración; El Baghdadi, Jamila; Tiberghien, Pierre; Balsera-manzanero, María; Zins, Marie; Hammarström, Lennart; Bousfiha, Ahmed A.; Andreakos, Evangelos; Notarangelo, Luigi D.; Debette, Stéphanie; Prando, Carolina; Condino-neto, Antonio; Dominguez Pinilla, Nerea; Meyts, Isabelle; Aydillo, Teresa; Okamoto, Keisuke; Soumaré, Aïcha; Wroblewski, Isabelle; Karamitros, Timokratis; Medina, Rafael A.; Kisand, Kai; Ramírez Duque, Nieves; Feys, Simon; Romero Oraa, Laura; Kuo, Chen-yen; Lei, Wei-te; Quintana Murci, Lluis; Milner, Joshua D.; García Salum, Tamara; Ku, Cheng-lung; Van De Beek, Diederik; Hsieh, Elena W.Y.; Tal, Galit; Fournet, Thomas; Cerba Healthcare Group; Patural, Hugues; Novelli, Giuseppe; Lyon Antigrippe Working Group; Arias, Andrés A.; Shahrooei, Mohammed; Rovina, Nikoletta; Rodríguez-gallego, Carlos; Puel, Anne; Jouanguy, Emmanuelle; Vinh, Donald C.; Abel, Laurent; Henny, Joseph; Mogensen, Trine H.; Cobat, Aurélie; Casari, Giorgio; Slaby, Ondrej; Ramaswamy, Sathishkumar; Abelenda Alonso, Gabriela; Morel, Pascal; Fragkou, Paraskevi C.; Argaud, Laurent; Belot, Alexandre; Shcherbina, Anna; Al-muhsen, Saleh; Biggs, Catherine M.; Bogunovic, Dusan; Husebye, Eystein; Planas, Anna M.; Heath, James R.; Von Bernuth, Horst; Dufouil, Carole; Bolze, Alexandre; Boeuf, Benoit; Rodríguez Gallego, Carlos; Christodoulou, John; Bondarenko, Anastasiia; Martin, Fernando; Fellay, Jacques; Koltsida, Ourania; Sediva, Anna; Ruiz Hernandez, José Juan; Bonneaudeau, Brigitte; Cannet, Dorothée; Ku, Cheng-lung; Etablissement Français Du Sang Study Group; Froidure, Antoine; Laurent, Emilie; Galani, Ioanna Evdokia; Pothier, Pierre; Gregersen, Peter K.; Lemonnier, Sylvie; Spaan, András N.; Darmon, Michael; Grimbacher, Bodo; Del Mar Muñoz Garcia, Maria; Zawadzki, Pawel; Henrickson, Sarah E.; Haerynck, Filomeen; O'farrelly, Cliona; Morand, Patrice; Rosa Calatrava, Manuel; Lachaize, Morgane; Okada, Satoshi; Vanker, Martti; Bryceson, Yenan; Ling, Yun; Cooper, Megan A.; Lucas, Carrie L.; Maniatis, Tom; Romero Vázquez, Gloria María; Navarrete, Nicolás; Mansouri, Davood; Castagnoli, Riccardo; Zins, Marie; Maródi, László; Mironska, Kristina; Rapti, Vasiliki; Baris Feldman, Hagit; Pozzetto, Bruno; Renia, Laurent; Tancevski, Ivan; Franco, José Luis; Imai, Kohsuke; Ozcelik, Tayfun; Pan-hammarström, Qiang; Al-mulla, Fahd; Pape, Jean W.; Etzioni, Amos; Souweine, Bertrand; Perez De Diego, Rebeca; Wauters, Joost; Sánchez Cordero, Maria Jose; Uddin, Mohammed J.; Solé Violán, Jordi |
| 1-Oct-2021 | Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations | Hochberg, Irit; Demain, Leigh A. M.; Richer, Julie; Thompson, Kyle; Urquhart, Jill E.; Rea, Alessandro; Pagarkar, Waheeda; Rodríguez Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Pujol, Aurora; Quijada Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J.; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A.; Mcmillan, Hugh J.; Barzik, Melanie; Beaman, Glenda M.; Motha, Reeya; Ng, Kah Ying; O’sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Lawrence, Isabella R.; Jenkinson, Emma M.; Zambonin, Jessica L.; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Yue, Wyatt W.; Zschocke, Johannes; Munro, Kevin J.; Battersby, Brendan J.; Friedman, Thomas B.; Taylor, Robert W.; O’keefe, Raymond T.; Newman, William G. |
| 20-Aug-2021 | Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy | Verdura, Edgard; Rodríguez Palmero, Agustí; Vélez Santamaría, Valentina; Planas Serra, Laura; Calle, Irene de la; Raspall Chaure, Miquel; Roubertie, Agathe; Benkirane, Mehdi; Saettini, Francesco; Pavinato, Lisa; Mandrile, Giorgia; O’leary, Melanie; O’heir, Emily; Barredo, Estibaliz; Chacón, Almudena; Michaud, Vincent; Goizet, Cyril; Ruiz, Montserrat; Schlüter, Agatha; Rouvet, Isabelle; Sala Coromina, Júlia; Fossati, Chiara; Iascone, Maria; Canonico, Francesco; Marcé Grau, Anna; Souza, Precilla de; Adams, David; Casasnovas Pons, Carlos; Rehm, Heidi L.; Mefford, Heather C.; González Gutiérrez-Solana, Luis; Brusco, Alfredo; Koenig, Michel; Macaya, Alfons; Pujol, Aurora |
| 1-Oct-2019 | Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study | Casasnovas Pons, Carlos; Ruiz, Montserrat; Schlüter, Agatha; Naudi, Alba; Fourcade, Stéphane; Veciana, Misericordia; Castañer, Sara; Albertí, Antonia; Bargalló Alabart, Núria; Johnson, Maria; Raymond, Gerald V.; Fatemi, Ali; Moser, Ann B.; Villarroya i Gombau, Francesc; Portero-Otín, Manuel; Artuch Iriberri, Rafael; Pamplona, Reinald; Pujol, Aurora |
| 7-Sep-2023 | ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization | Schlüter, Agatha; Vélez Santamaría, Valentina; Verdura, Edgard; Rodríguez Palmero, Agustí; Ruiz, Montserrat; Fourcade, Stéphane; Planas Serra, Laura; Launay, Nathalie; Guilera, Cristina; Martínez, Juan José; Homedes Pedret, Christian; Albertí Aguiló, M. Antonia; Zulaika, Miren; Martí, Itxaso; Troncoso, Mónica; Tomás Vila, Miguel; Bullich, Gemma; García Pérez, M. Asunción; Sobrido Gómez, María Jesús; López Laso, Eduardo; Fons, Carme; Toro, Mireia del; Macaya, Alfons; García Cazorla, Àngels; Ortiz Martínez, Antonio José; Ortez, Carlos Ignacio; Cáceres Marzal, Cristina; Martínez Salcedo, Eduardo; Mondragón, Elisabet; Barredo, Estíbaliz; Antón Airaldi, Ileana; Ruíz Martínez, Javier; Fernández Ramos, Joaquin A.; Vázquez, Juan Francisco; Díez Porras, Laura; Vázquez Cancela, María; O’Callaghan, Mar; Pablo Sánchez, Tamara; Nedkova, Velina; Maraña Pérez, Ana Isabel; Beltran, Sergi; Gutiérrez Solana, Luis G.; Pérez Jurado, Luis A.; Aguilera Albesa, Sergio; López de Munain, Adolfo; Casasnovas, Carlos; Pujol, Aurora; HSP/ATAXIA Workgroup |
| 10-Jan-2022 | Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization | Schlüter, Agatha; Rodríguez Palmero, Agustí; Verdura, Edgard; Vélez Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch Iriberri, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García Cazorla, Àngels; Armstrong, Judith; Marti, Itxaso; Mondragón Rezola, Elisabet; Redin, Claire; Mandel, Jean Louis; Conejo, David; Sierra Córcoles, Concepción; Beltran, Sergi; Gut, Marta; Vázquez, Elida; Toro, Mireia del; Troncoso, Mónica; Pérez Jurado, Luis; Gutiérrez Solana, Luis G.; López de Munain, Adolfo; Casasnovas Pons, Carlos; Aguilera Albesa, Sergio; Macaya, Alfons; Pujol, Aurora; GWMD working group |
| 1-Sep-2022 | Epigenetic activation of antiviral sensors and effectors of interferon response pathways during SARS-CoV-2 infection | Bińkowski, Jan; Taryma Leśniak, Olga; Łuczkowska, Karolina; Niedzwiedź, Anna; Lechowicz, Kacper; Strapagiel, Dominik; Jarczak, Justyna; Davalos, Veronica; Pujol, Aurora; Esteller, Manel; Kotfis, Katarzyna; Machaliński, Bogusław; Parczewski, Miłosz; Wojdacz, Tomasz K. |
| 1-Aug-2022 | Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study | 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 |
| 14-Aug-2023 | Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia | Iruzubieta, Pablo; Pellerin, David; Bergareche, Alberto; Albajar, Inés; Mondragón, Elisabet; Vinagre, Ana; Fernández Torrón, Roberto; Moreno, Fermín; Equiza, Jon; Campo Caballero, David; Poza, Juan José; Ruibal, Marta; Formica, Alessandro; Dicaire, Marie Josée; Danzi, Matt C.; Zuchner, Stephan; Croitoru, Ioana; Ruiz, Montserrat; Schlüter, Agatha; Casasnovas, Carlos; Pujol, Aurora; Brais, Bernard; Houlden, Henry; López de Munain, Adolfo; Ruiz Martínez, Javier |
| 4-Jan-2024 | Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children | Bastard, Paul; Gervais, Adrian; Taniguchi, Maki; Saare, Liisa; Särekannu, Karita; Le Voyer, Tom; Philippot, Quentin; Rosain, Jérémie; Bizien, Lucy; Asano, Takaki; Garcia Prat, Marina; Zawadzki, Pawel; Soler Palacin, Pere; Karbuz, Adem; Fernández Pérez, Cristina; Parra Martínez, Alba; Cheikh, Nathalie; Colobran, Roger; Tillmann, Vallo; Neven, Bénédicte; Saito Villanueva, Carla; Hagin, David; Jabandziev, Petr; Trouillet Assant, Sophie; Brodin, Petter; Colobran, Roger; Abel, Laurent; Jouanguy, Emmanuelle; Bastón Rey, Iria; Bousfiha, Ahmed A.; Fernández Villaverde, Juan; Núñez Masid, Eloína; Mentré, France; Tancevski, Ivan; Ahlijah, Gloria; Gen Covid Study Group; Novelli, Giuseppe; Zatz, Mayana; Covid Human Genetic Effort; Perlin, David S.; Soudee, Camille; Arseguel, Vincent; Grimbacher, Bodo; Lévy, Romain; Abolhassani, Hassan; Ozcelik, Tayfun; Sahanic, Sabina; Galbán Rodríguez, Cristóbal; Gorochov, Guy; Tancevski, Ivan; Nukui, Yoko; Tüter Öz, Şadiye Kübra; O’farrelly, Cliona; Condino Neto, Antonio; Okada, Satoshi; Hayakawa, Seiichi; García Vicente, Luisa; Heath, James R.; Aguilera Albesa, Sergio; Chrousos, George P.; Ortolá Devesa, Juan Bautista; Michos, Athanasios; Beek, Diederik Van De; Tatsi, Elizabeth Barbara; Filippatos, Filippos; Duvlis, Sotirija; Rodriguez Palmero, Agusti; Troya, Jesus; Constantinescu, Stefan N.; Serén Fernández, Sonia; Aiuti, Alessandro; Gregersen, Peter K.; Marseglia, Gian Luigi; Soler Palacín, Pere; Kisand, Kai; El Bakkouri, Jalila; Temel, Şehime Gülsün; Metin Akcan, Ozge; Turvey, Stuart E.; Javouhey, Etienne; Kılıç, Ahmet Osman; Souto Sanmartín, Pablo; Pujol, Aurora; Ozkaya Parlakay, Aslinur; Papadaki, Maria; Giráldez Vázquez, Elena; Quartier, Pierre; Meyts, Isabelle; Slaba, Katerina; Uddin, Mohammed J.; Sevketoglu, Esra; Al Muhsen, Saleh; Valencia Ramos, Juan; Salas, Antonio; Yahşi, Aysun; Aguilera Guirao, Antonio; Pérez Freixo, Hugo; Furkan Uddin, K.M.; Milner, Joshua D.; Okamoto, Keisuke; Erdeniz, Emine Hafize; Álvarez Escudero, Julián; Amara, Ali; Dalgard, Clifton L.; Gómez Rial, José; Taboada Muñiz, Manuel; Antela López, Antonio; Barbeito Castiñeiras, Gema; Bello Paderne, Xabier; Mironska, Kristina; Belot, Alexandre; Ben García, Miriam; Carral García, María Victoria; Soumelis, Vassili; Cebey López, Miriam; Coira Nieto, Amparo; Ozcelik, Tayfun; Trastoy Pena, Rocío; Desai, Murkesh; Halwani, Rabih; Schidlowski, Laire; Conde Pájaro, Mónica; Pischedda, Sara; Zhang, Qian; Gulhan, Belgin; Gómez Carballa, Alberto; Casanova, Jean Laurent; Portela Romero, Manuel; Migaud, Mélanie; Wauters, Joost; Pose Reino, Antonio; Navarro De La Cruz, Daniel; Prada Hervella, Gloria María; Drolet, Beth A.; Husain, Maya; Queiro Verdes, Teresa; Redondo Collazo, Lorenzo; Anderson, Mark S.; Martinón Torres, Federico; Spaan, András N.; Regueiro Casuso, Patricia; El Baghdadi, Jamila; Peterson, Pärt; Conti, Francesca; Rey García, Susana; Hammarström, Lennart; Rey Vázquez, Sara; Cyrus, Cyril; Riveiro Blanco, Vanessa; Rivero Calle, Irene; Rivero Velasco, Carmen; Tsumura, Miyuki; Su, Helen C.; Mogensen, Trine H.; Perez De Diego, Rebeca; Von Bernuth, Horst; Andreakos, Evangelos; Tipu, Imran; Domínguez Santalla, María Jesús; Treviño Castellano, Mercedes; Arias, Andrés A.; Alkhater, Suzan A.; Martinón Torres, Federico; Arkin, Lisa M.; Morio, Tomohiro; Kanik Yuksek, Saliha; Baris Feldman, Hagit; Bastard, Paul; Tanaka, Junko; Pérez Del Molino Bernal, Marisa; Belot, Alexandre; Castagnoli, Riccardo; Biggs, Catherine M.; Perez Tur, Jordi; Rivière, Jacques G.; Currás Tuala, María José; Bogunovic, Dusan; Bolze, Alexandre; Imai, Kohsuke; Alkan, Gulsum; Gómez Carballa, Alberto; Abel, Laurent; Bondarenko, Anastasiia; Pesole, Graziano; Escoda, Simon; Espinosa Padilla, Sara; Ng, Lisa F.P.; Bousfiha, Ahmed A.; Brodin, Petter; Bryceson, Yenan; Lence Massa, Beatriz; Butte, Manish J.; Casanova, Jean-laurent; Meyts, Isabelle; Casari, Giorgio; Christodoulou, John; González Granado, Luis Ignacio; Notarangelo, Luigi D.; Tangye, Stuart G.; Zhang, Qian; Morio, Tomohiro; Jarvis, Erich D.; Costa Alcalde, José Javier; Calviño Suárez, Cristina; Eloy, Philippine; García Allut, José Luis; Jouanguy, Emmanuelle; González Barcala, Francisco Javier; Emiroglu, Melike; Haerynck, Filomeen; Kaja, Elżbieta; Abou Tayoun, Ahmad; Pazo Núñez, María; Karamitros, Timokratis; Kisand, Kai; Planas, Anna M.; Piñeiro Rodríguez, Lidia; Roussel, Lucie; Ku, Cheng Lung; Thorball, Christian; Leboráns Iglesias, Pilar; Lau, Yu Lung; Zhang, Shen Ying; Ling, Yun; Viz Lasheras, Sandra; Lucas, Carrie L.; Mansouri, Davood; Maródi, László; Guerra Liñares, Beatriz; Ostrowski, Sisse Rye; Puel, Anne; Elmas Bozdemir, Sefika; Keles, Sevgi; Rodríguez Núñez, Nuria; Cooper, Megan A.; Novelli, Antonio; Prando, Carolina; Valdés Cuadrado, Luis; Haerynck, Filomeen; Pujol, Aurora; Al Mulla, Fahd; Puel, Anne; Quintana Murci, Lluis; López Lago, Ana; Husebye, Eystein; Ramaswamy, Sathishkumar; Vilas Iglesias, María Soledad; Renia, Laurent; Cobat, Aurélie; Lendoiro Fuentes, Marta; Resnick, Igor; Rodríguez Gallego, Carlos; Pan Hammarström, Qiang; Varela García, Pablo; Dacosta Urbieta, Ana Isabel; Pape, Jean W.; Sancho Shimizu, Vanessa; Abi Haidar, Anthony; Pardo Seco, Jacobo; Trouillet Assant, Sophie; Sediva, Anna; Tandjaoui Lambiotte, Yacine; Seppänen, Mikko R.J.; Froidure, Antoine; Shahrooei, Mohammed; Shcherbina, Anna; Rodríguez Tenreiro Sánchez, Carmen; Slaby, Ondrej; Snow, Andrew L.; Díaz Esteban, Blanca; Prando, Carolina; Hatipoglu, Nevin; López Franco, Montserrat; Vinh, Donald C.; Cobat, Aurélie; Pan-hammarström, Qiang; Tiberghien, Pierre; Duval, Xavier; Boisson, Bertrand; Fellay, Jacques; Salas, Antonio; Béziat, Vivien; Condino Neto, Antonio; Hsieh, Elena W.y.; Borghesi, Alessandro; Pession, Andrea; Covid Clinicians; Itan, Yuval; Saborido Paz, Eva; Andreakos, Evangelos; Franco, José Luis; Marr, Nico; Bayhan, Gülsün Iclal; Mentis, Alexios Fotios A.; Okada, Satoshi; Hammarström, Lennart; Mogensen, Trine H.; Rodríguez Gallego, Carlos; Flores, Carlos; Sadiki Orayyou, José Miguel; Ferreiro Iglesias, Rocio |
| 17-Jul-2023 | RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia | Launay, Nathalie; Ruiz, Montserrat; Planas Serra, Laura; Verdura, Edgard; Rodríguez Palmero, Agustí; Schlüter, Agatha; Goicoechea, Leire; Guilera, Cristina; Casas, Josefina; Campelo, Felix; Jouanguy, Emmanuelle; Casanova, Jean Laurent; Boespflug Tanguy, Odile; Vazquez Cancela, Maria; González Gutiérrez-Solana, Luis; Casasnovas, Carlos; Area Gomez, Estela; Pujol, Aurora |
| May-2022 | Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases | Bullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou, Anastasios; Piscia, Davide; Tonda, Raúl; Artuch, Rafael; Gallano, Pia; Garrabou Tornos, Glòria; González, Juan R.; Grinberg Vaisman, Daniel Raúl; Guitart, Míriam; Laurie, Steven; Lázaro, Conxi; Luengo, Critina; Martí, Ramon; Milà, Montserrat; Ovelleiro, David; Parra, Genís; Pujol, Aurora; Tizzano, Eduardo; Macaya, Alfonso; Palau, Francesc; Ribes, Antonio; Pérez-Jurado, Luis A.; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.; Rabionet Janssen, Raquel; Balcells Comas, Susana |
| 19-Aug-2021 | X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 | Asano, Takaki; Boisson, Bertrand; Onodi, Fanny; Matuozzo, Daniela; Moncada Velez, Marcela; Maglorius Renkilaraj, Majistor Raj Luxman; Zhang, Peng; Meertens, Laurent; Bolze, Alexandre; Materna, Marie; Korniotis, Sarantis; Lifton, Richard P.; Bastard, Paul; Abel, Laurent; Jouanguy, Emmanuelle; Amara, Ali; Soumelis, Vassili; Cobat, Aurélie; Zhang, Qian; Casanova, Jean-Laurent; COVID Human Genetic Effort; French COVID Cohort Study Group; COVID-STORM Clinicians; Amsterdam UMC Covid-19 Biobank; COVID Clinicians; Gervais, Adrian; Imagine COVID Group; CoV-Contact Cohort; NIAID-USUHS COVID Study Group; Talouarn, Estelle; Bigio, Benedetta; Seeleuthner, Yoann; Bilguvar, Kaya; Zhang, Yu; Neehus, Anna-Lena; Ogishi, Masato; Soler Palacín, Pere; Pelham, Simon J.; Martin Nalda, Andrea; Le Voyer, Tom; Rosain, Jérémie; Philippot, Quentin; Colobran, Roger; Rivière, Jacques G.; Tandjaoui-Lambiotte, Yacine; Chaïbi, Khalil; Shahrooei, Mohammad; Darazam, Ilad Alavi; Olyaei, Nasrin Alipour; Mansouri, Davood; Hatipoğlu, Nevin; Casari, Giorgio; Palabiyik, Figen; Carrera, Paola; Ozcelik, Tayfun; Novelli, Giuseppe; Novelli, Antonio; Aiuti, Alessandro; Bondesan, Simone; Barzaghi, Federica; Rovere-Querini, Patrizia; Tresoldi, Cristina; Franco, Jose Luis; Rojas, Julian; Reyes, Luis Felipe; Bustos, Ingrid G.; Planas Serra, Laura; Arias, Andres Augusto; Gut, Marta; Morelle, Guillaume; Christèle, Kyheng; Troya, Jesús; Schlüter, Agatha; Pujol, Aurora; Allende, Luis M.; Rodriguez Gallego, Carlos; Flores, Carlos; Cabrera Marante, Oscar; Pleguezuelo, Daniel E.; Pérez de Diego, Rebeca; Keles, Sevgi; Brodin, Petter; Aytekin, Gokhan; Smith, C.I. Edvard; Akcan, Ozge Metin; Bryceson, Yenan T.; Bergman, Peter; Smole, Daniel; Norlin, Anna-Carin; Campbell, Tessa M.; Covill, Laura E.; Hammarström, Lennart; Pan-Hammarström, Qiang; Abolhassani, Hassan; Mane, Shrikant; Marr, Nico; Dalgard, Clifton L.; Ata, Manar; Biondi, Andrea; Al Ali, Fatima; Khan, Taushif; Spaan, András N.; Bonfanti, Paolo; Tubiana, Sarah; Burdet, Charles; Nussbaum, Robert L.; Kahn-Kirby, Amanda; Snow, Andrew L.; Bustamante, Jacinta; Puel, Anne; Boisson-Dupuis, Stéphanie; Notarangelo, Luigi D.; Zhang, Shen-Ying; Su, Helen C.; Béziat, Vivien |