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CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative
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Luque, Juan A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Mendes, Ingrid (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Gómez, Beatriz (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Morte, Beatriz (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
López de Heredia, Miguel (Institut d'Investigació Biomèdica Sant Pau) ;
Herreras, Enrique (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Corrochano, Virginia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bueren, Juan (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Gallano, Pia (Institut d'Investigació Biomèdica Sant Pau) ;
Artuch, R (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Fillat, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Pérez-Jurado, Luis A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Montoliu, Lluis (Consejo Superior de Investigaciones Científicas (CSIC)) ;
Carracedo, Ángel ;
Millán, José (Biomedicina Molecular Celular y Genómica. Instituto Investigación Sanitaria La Fe) ;
Webb, S. M 1952- (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Palau, Francesc (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Aguado, Carmen (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Aguilera, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Albiñana, Virginia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Alías, Laura (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Almoguera, Berta (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Alonso, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Alonso-Ferreira, Verónica (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Álvarez-Mora, María Isabel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Antiñolo Gil, Guillermo (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Arbones, ML. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Arenas, Joaquín (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Arjona, Emilia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Armangue, Thais (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Armstrong, Judith (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Arnedo, María (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Artuch, R (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Aulinas-Masó, Anna (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Avila-Fernandez, Almudena (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Ayuso, Carmen (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Badell Serra, Isabel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Badenas, Celia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Baeza, Maria Luisa (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Baiget, Montserrat (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Balcells, Susana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Ballesta Martínez, María Juliana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Barahona, María-José (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Barros, Francisco (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bartoccioni, Paola Chiara (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bayona-Bafaluy, María Pilar (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Benito Sanz, Sara (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bernabéu, Carmelo (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bernal, Sara (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Blanco-Kelly, Fiona (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Blázquez, Alberto (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bodoy, Susanna (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bogliolo, Massimo (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Borralleras, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Borrego, Salud (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Botella, Luisa-Maria (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bou de Pieri, Francesc (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bovolenta, Paola (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bravo Gil, Nereida (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Brea-Fernández, Alejandro (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bueno-Lozano, Gloria (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bueren, Juan (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bustamante, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Caballero, Teresa (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Camacho-Macorra, Carlos (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Cámara, Yolanda (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Camats Tarruella, Núria (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Campos-Barros, Ángel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Campuzano, Victoria (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Cantarero Abad, Lara (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Cantó, Judith (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Caparros-Martin, Jose A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Cardellach, Francesc (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Carmona Muñoz, Rosario (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Carrera, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Carretero, Marta (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Casado, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Casado, José A (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Casasnovas, Carlos (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Cascón, Alberto (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Casino, Patricia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Castaño, Luís Antonio (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Castilla-Vallmanya, Laura (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Catala, Albert (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Cayuela, Maria Luisa (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Cediel, R. ;
Cervera, J. ;
Codina Solà, Marta ;
Contreras, J. ;
Cormand, B. ;
Corominas, R. ;
Corral, J. ;
Corrochano, V. ;
Cortés-Rodríguez, A. ;
Corton, M. ;
Costa-Roger, M. ;
Cozar, M. ;
Crespo, I. ;
Crispi, F. ;
Cruz, R. ;
Cuezva, J. ;
Cuscó, I. ;
Dalmau, J. ;
de Cima, S. ;
de la Luna, S. ;
Luna, N. ;
de Oyarzabal Sanz, A. ;
del Campo, M. ;
Del Castillo, Ignacio ;
Del Pino Molina, L. ;
Del Pozo, Á. ;
del Río, M. ;
Delmiro, A. ;
Desviat, Lourdes R ;
Dierssen, M. ;
Domínguez-González, C. ;
Domínguez-Ruiz, M. ;
Dopazo, J. ;
Errasti, E. ;
Escámez, M.J. ;
Cristina Estañ, M. ;
Esteban, J. ;
Estévez, R. ;
Ezquieta, B. ;
Fernández, L. ;
Fernández, A. ;
Fernández-Cancio, M. ;
Fernàndez-Castillo, N. ;
Fernández-San Jose, P. ;
Fons, C. ;
Fort, J. ;
Fourcade, S. ;
Fraga, M. F. ;
Gallano, Pia ;
Gallardo, E. ;
García, M. ;
García-Arumí, E. ;
García-Bravo, M. ;
García-Cazorla, A. ;
García-Consuegra, I. ;
Garcia-Garcia, F.J. ;
García-García, G. ;
García-Giménez, J. ;
Garcia-Gimeno, M.A. ;
García-Miñaur, S. ;
García-Redondo, A. ;
Teresa García-Silva, M. ;
García-Villoria, J. ;
García Santiago, F. ;
Garrabou, G. ;
Garrido, G. ;
Garrido-Pérez, N. ;
Gaztambide, S. ;
Gil-Campos, M. ;
Giroud-Gerbetant, J. ;
Glover, G. ;
Gómez, B. ;
Gómez-Puertas, P. ;
Gonzalez-Cabo, P. ;
Gonzalez-Casacuberta, I. ;
González-del Pozo, M. ;
Gonzalez-Quereda, L. ;
González-Quintana, A. ;
Gort, L. ;
Gougeard, N. ;
Gratacos, E. ;
María Grau, J. ;
Grinberg, D. ;
Güenechea, G. ;
Guerrero, R. ;
Guillén-Navarro, E. ;
Guitart-Mampel, M. ;
Gutiérrez-Arumí, A. ;
Heath, K. ;
Heredia, M. ;
Hernández-Chico, C. ;
Herreras, E. ;
Hoenicka, J. ;
Homs, Aïda ;
Jimenez-Estrada, Juan Andrés ;
Jimenez-Mallebrera, C. ;
Jou, C. ;
Luz Juarez-Flores, D. ;
Lapunzina, Pablo (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Larcher, F. ;
Lasa, A. ;
Lassaletta, L. ;
Latorre Pellicer, Ana ;
Linares, D. ;
Llacer, J. ;
Llames, S. ;
Lopez-Gallardo, E. ;
López-Laso, E. ;
López-Lera, A. ;
Lopez-Lopez, D. ;
López-Sánchez, M. ;
López de Heredia, M. ;
López Granados, E. ;
Lorda-Sanchez, I. ;
Luisa Lozano, M. ;
Luque, J. ;
Madrigal, I. ;
Malvehy, J. ;
Manguán García, C. ;
Mansilla, E. ;
Marco-Marín, C. ;
Marfany, G. ;
Marina, A. ;
Martí, R. ;
Martí, S. ;
Martin, Y. ;
Martín, M.A. ;
Martín-Hernandez., E. ;
Martin-Merida, I. ;
Martínez, R. ;
Martínez-Azorín, F. ;
Martinez-Delgado, B. ;
Martínez-Gil, N. ;
Martínez-Glez, V.M. ;
Martínez-Momblán, M.A. ;
Carmen Martínez-Romero, M. ;
Martínez Fernández, P. ;
Martínez Santamaría, L. ;
Martorell, Loreto ;
Meade, P. ;
Meana, Á. ;
Ángel Medina, M. ;
Medrano, A. ;
Mendes, I. ;
Méndez-Vidal, C. ;
Millán, J. ;
Minguez, P. ;
Minguillón, J. ;
Mirra, S. ;
Molla, B. ;
Moltó, E. ;
Montero, R. ;
Montoliu, L. ;
Montoya, J. ;
Morán, M. ;
Moren, C. ;
Moreno, M. ;
Moreno, J. ;
Moreno-Galdó, A. ;
Ángel Moreno-Pelayo, M. ;
A Mori, Maria ;
Morin, M. ;
Morte, B. ;
Mulero, V. ;
Muñoz-Pujol, G. ;
Murillas, R. ;
Murillo-Cuesta, S. ;
Nascimento, A. ;
Navarro, S. ;
Navas, P. ;
Nevado, J. ;
Nicolas, A. ;
Ángela Nieto, M. ;
O'Callaghan, Maria del Mar ;
Olavarrieta, L. ;
Ormazabal, A. ;
Ortiz-Romero, P. ;
Osorio, A. ;
Páez, D. ;
Palacín, M. ;
Gabriela Palacios-Verdú, M. ;
Palau, F. ;
Palencia-Campos, A. ;
Pallardó, F.V. ;
Palomares, M. ;
Peña-Chilet, M. ;
Pérez, B. ;
Perez-Florido, J. ;
Pérez-García, D. ;
Perez-Jimenez, E. ;
Pérez-Jurado, L.A. ;
Perkins, J.R. ;
Perona, R. ;
Pie, J. ;
Pinós, T. ;
Pinto, S. ;
Potrony, M. ;
Puig, S. ;
Antón Puig-Butille, J. ;
Puisac, B. ;
Pujol, R. ;
Pujol, A. ;
Quintana, Ó. ;
Rabionet, R. ;
JoséRamírez de Haro, M. ;
Ramos, F.J. ;
Ranea, J.A.G. ;
Reina-Castillón, J. ;
Resmini, E. ;
Ribes, A. ;
Rica, I. ;
Richard, E. ;
Riera, P. ;
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Riveiro-Alvarez, R. ;
Rivera, J. ;
Rivera-Barahona, A. ;
Robledo, Mercedes ;
Carlos Rodriguez-Aguilera, J. ;
Rodríguez-de la Rosa, L. ;
Rodríguez-Palmero, A. ;
Rodriguez-Pombo, P. ;
Rodriguez-Revenga, L. ;
Rodríguez-Santiago, B. ;
Rodríguez-Sureda, V. ;
Rodríguez de Alba, M. ;
Rodríguez de Cordoba, S. ;
Romá-Mateo, C. ;
Rubio, V. ;
Ruiz, Á. ;
Ruiz, M. ;
Ruiz-Arenas, C. ;
Luis Ruiz-Perez, V. ;
Ruiz-Pesini, E. ;
Ruiz-Ponte, C. ;
Rullo, J. ;
Sabater, L. ;
Salazar, J. ;
Salido, E. ;
Sanchez-Jimeno, C. ;
María Sánchez Cuesta, A. ;
JoséSánchez Soler, M. ;
Santacatterina, F. ;
Santamarina, M. ;
Santos, A. ;
Santos-Ocaña, C. ;
Santos Simarro, F. ;
Sanz, P. ;
Sastre, L. ;
Schlüter, A. ;
Segovia, J. ;
Segura-Puimedon, M. ;
Seoane, P. ;
Serra-Juhe, C. ;
Serrano, M. ;
Serratosa, J. ;
Sevilla, T. ;
Surrallés, J. ;
Tahsin-Swafiri, S. ;
Tell-Martí, G. ;
Antonio Tenorio-Castaño, J. ;
Tizzano, E. ;
Tobias, E. ;
Tort, F. ;
Trujillano, L. ;
JoséTrujillo-Tiebas, M. ;
Ugalde, C. ;
Ugarteburu, O. ;
Urreizti, R. ;
Urrutia, I. ;
Valencia, M. ;
Vallcorba, P. ;
Vallespín, E. ;
Varela-Nieto, I. ;
Vega, A. ;
Vélez-Santamaria, V. ;
Vílchez, J.J. ;
Villa, O. ;
Villamar, M. ;
Webb, S.M. ;
Zubeldia, J. ;
Zurita, O. ;
Lapunzina, P. ;
Universitat Autònoma de Barcelona
CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). [...]
2022 -  10.1111/cge.14113
Clinical Genetics, Vol. 101 Núm. 5-6 (May-June 2022) , p. 481-493
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25 p, 2.4 MB |
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
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Matuozzo, Daniela (University Paris Cité) ;
Talouarn, Estelle (University Paris Cité) ;
Marchal, Astrid (University Paris Cité) ;
Zhang, Peng (Rockefeller University) ;
Manry, Jeremy (University Paris Cité) ;
Seeleuthner, Yoann (University Paris Cité) ;
Zhang, Yu (Laboratory of Clinical Immunology and Microbiology) ;
Bolze, Alexandre (Helix) ;
Chaldebas, Matthieu (The Rockefeller University) ;
Milisavljevic, Baptiste (The Rockefeller University) ;
Gervais, Adrian (University Paris Cité) ;
Bastard, Paul (Necker Hospital for Sick Children) ;
Asano, Takaki (The Rockefeller University) ;
Bizien, Lucy (University Paris Cité) ;
Barzaghi, Federica (IRCCS San Raffaele Scientific Institute (Milà, Itàlia)) ;
Abolhassani, Hassan (Children's Medical Center) ;
Abou Tayoun, Ahmad (Mohammed Bin Rashid University of Medicine and Health Sciences) ;
Aiuti, Alessandro (Vita-Salute San Raffaele University) ;
Alavi Darazam, Ilad (Loghman Hakim Hospital) ;
Allende, Luis M. (Hospital 12 de Octubre (Madrid)) ;
Alonso-Arias, Rebeca (Hospital Universitario Central de Asturias) ;
Arias, Andrés Augusto (University of Antioquia UdeA) ;
Aytekin, Gokhan (Konya City Hospital) ;
Bergman, Peter (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Bondesan, Simone (IRCSS San Raffaele Scientific Institute) ;
Bryceson, Yenan (Karolinska Institutet (Estocolm, Suècia)) ;
Bustos, Ingrid G. (Universidad de La Sabana) ;
Cabrera-Marante, Oscar (Hospital Universitario La Paz (Madrid)) ;
Carcel, Sheila (Instituto Maimónides de Investigación Biomédica de Córdoba) ;
Carrera, Paola (IRCSS San Raffaele Scientific Institute) ;
Casari, Giorgio (Vita-Salute San Raffaele University) ;
Chaïbi, Khalil (Sorbonne University) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Condino-Neto, Antonio (University of São Paulo) ;
Covill, Laura E. (Karolinska Institutet (Estocolm, Suècia)) ;
Delmonte, Ottavia M. (Laboratory of Clinical Immunology and Microbiology) ;
El Zein, Loubna (Lebanese University) ;
Flores, Carlos (Universidad Fernando Pessoa Canarias) ;
Gregersen, Peter K. (Feinstein Institute for Medical Research) ;
Gut, Marta (Institut de Ciència i Tecnologia de Barcelona. Institut de Recerca en Biomedicina) ;
Haerynck, Filomeen (Jeffrey Modell Diagnosis and Research Centre) ;
Halwani, Rabih (University of Sharjah) ;
Hancerli, Selda (Istanbul University) ;
Hammarström, Lennart (Karolinska Institutet (Estocolm, Suècia)) ;
Hatipoğlu, Nevin (University of Health Sciences, Turkey) ;
Karbuz, Adem (Dr. Cemil Tascioglu City Hospital, Turkey) ;
Keles, Sevgi (Necmettin Erbakan University) ;
Kyheng, Christèle (Hôpital Bicêtre) ;
Leon-Lopez, Rafael (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Franco, Jose Luis (University of Antioquia UDEA) ;
Mansouri, Davood (Shahid Beheshti University of Medical Sciences) ;
Martínez Picado, Francisco Javier (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Metin Akcan, Ozge (Necmettin Erbakan University) ;
Migeotte, Isabelle (Centre de Génétique Humaine de L'Université Libre de Bruxelles) ;
Morange, Pierre-Emmanuel (Aix-Marseille University) ;
Morelle, Guillaume (Hôpital Bicêtre) ;
Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Novelli, Giuseppe (IRCCS Neuromed) ;
Novelli, Antonio (Bambino Gesù Children Hospital) ;
Ozcelik, Tayfun (Bilkent University) ;
Palabiyik, Figen (University of Health Sciences, Turkey) ;
Pan-Hammarström, Qiang (Karolinska Institutet (Estocolm, Suècia)) ;
de Diego, Rebeca Pérez (Hospital Universitario La Paz (Madrid)) ;
Planas-Serra, Laura (Institut d'Investigació Biomèdica de Bellvitge) ;
Pleguezuelo, Daniel E. (Hospital 12 de Octubre (Madrid)) ;
Prando, Carolina (Instituto de Pesquisa Pelé Pequeno Príncipe) ;
Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ;
Reyes, Luis Felipe (Universidad de La Sabana) ;
Rivière, Jacques G. (Hospital Universitari Vall d'Hebron) ;
Rodriguez-Gallego, Carlos (Universidad Fernando Pessoa Canarias) ;
Rojas, Julian (University of Antioquia UDEA) ;
Rovere-Querini, Patrizia (IRCCS San Raffaele Scientific Institute (Milà, Itàlia)) ;
Schlüter, Agatha (Institut d'Investigació Biomèdica de Bellvitge) ;
Shahrooei, Mohammad (KU Leuven.) ;
Sobh, Ali (Mansoura University Children's Hospital) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ;
Tandjaoui-Lambiotte, Yacine (Avicenne Hospital) ;
Tipu, Imran (University of Management and Technology) ;
Tresoldi, Cristina (IRCCS Ospedale San Raffaele) ;
Troya, Jesus (Hospital Universitario Infanta Leonor) ;
van de Beek, Diederik (Amsterdam Neuroscience) ;
Zatz, Mayana (University of São Paulo) ;
Zawadzki, Pawel (Adam Mickiewicz University) ;
Al-Muhsen, Saleh Zaid (King Saud University) ;
Alosaimi, Mohammed Faraj (King Saud University) ;
Alsohime, Fahad M. (King Saud University) ;
Baris-Feldman, Hagit (Tel Aviv University) ;
Butte, Manish J. (University of California Los Angeles) ;
Constantinescu, Stefan N. (Oxford University) ;
Cooper, Megan A. (Washington University in St. Louis) ;
Dalgard, Clifton L. (Uniformed Services University of the Health Sciences) ;
Fellay, Jacques (Lausanne University Hospital) ;
Heath, James R. (Institute for Systems Biology) ;
Lau, Yu-Lung (Queen Mary Hospital) ;
Lifton, Richard P. (Yale School of Medicine) ;
Maniatis, Tom (New York Genome Center) ;
Mogensen, Trine H. (Aarhus University Hospital (Aarhus, Dinamarca)) ;
von Bernuth, Horst (Charité - Universitätsmedizin Berlin) ;
Lermine, Alban (Laboratoire de Biologie Médicale Multisites Seqoia) ;
Vidaud, Michel (Laboratoire de Biologie Médicale Multisites Seqoia) ;
Boland, Anne (Université Paris-Saclay) ;
Deleuze, Jean-François (Université Paris-Saclay) ;
Nussbaum, Robert (Invitae) ;
Kahn-Kirby, Amanda (Invitae) ;
Mentre, France (Hôpital Bichat) ;
Tubiana, Sarah (Hôpital Bichat) ;
Gorochov, Guy (CIMI-Paris) ;
Tubach, Florence (Institut Pierre Louis d'Epidémiologie et de Santé Publique) ;
Hausfater, Pierre (Sorbonne Université) ;
Meyts, Isabelle (KU Leuven) ;
Zhang, Shen-Ying (The Rockefeller University) ;
Puel, Anne (The Rockefeller University) ;
Notarangelo, Luigi (Laboratory of Host Defenses) ;
Boisson-Dupuis, Stephanie (The Rockefeller University) ;
Su, Helen C. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Boisson, Bertrand (The Rockefeller University) ;
Jouanguy, Emmanuelle (The Rockefeller University) ;
Casanova, Jean-Laurent (Howard Hughes Medical Institute) ;
Zhang, Qian (The Rockefeller University) ;
Abel, Laurent (The Rockefeller University) ;
Cobat, Aurélie (The Rockefeller University) ;
Universitat Autònoma de Barcelona
We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvaccinated patients. [...]
2023 - 10.1186/s13073-023-01173-8
Genome Medicine, Vol. 15 (april 2023)
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3.
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14 p, 1.1 MB |
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
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Bullich Vilanova, Gemma (Centre de Regulació Genòmica) ;
Matalonga, Leslie (Centro Nacional Análisis Genómico (CNAG)-Centre for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology) ;
Pujadas, Montserrat (Universitat Pompeu Fabra) ;
Papakonstantinou, Anastasios (Centro Nacional Análisis Genómico (CNAG)-Centre for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology) ;
Piscia, Davide (Centro Nacional Análisis Genómico (CNAG)-Centre for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology) ;
Tonda, Raúl (Centre de Regulació Genòmica) ;
Artuch, R (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Gallano, Pia (Institut d'Investigació Biomèdica Sant Pau) ;
Garrabou, Glòria (CELLEX-Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS)) ;
González, Juan Ramón (Centro de Investigaciones Biomédicas en Red de Epidemiología y Salud Pública (CIBERESP). Instituto de Salud Carlos III) ;
Grinberg, Daniel (Institut de Recerca Sant Joan de Déu) ;
Guitart, Míriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Laurie, Steven (Centre de Regulació Genòmica) ;
Lázaro, Conxi (Centro de Investigación Biomédica en Red de Cáncer) ;
Luengo, Cristina (Centre de Regulació Genòmica) ;
Martí, Ramon A (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Milà, Montserrat (Institut d'Investigació Biomèdica August Pi I Sunyer (IDIBAPS)) ;
Ovelleiro, David (Centre de Regulació Genòmica) ;
Parra, Genís (Centre de Regulació Genòmica) ;
Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ;
Tizzano, Eduardo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Palau, Francesc (Hospital Clínic i Provincial de Barcelona) ;
Ribes, Antònia (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Pérez-Jurado, Luis A. (Women's and Children's Hospital. South Australian Health and Medical Research Institute and The University of Adelaide) ;
Beltran i Agulló, Sergi (Universitat de Barcelona. Departament de Genètica, Microbiologia i Estadística) ;
Schlüter, Agatha (Centre nacional d'anàlisi genòmica) ;
Rodriguez-Palmero, Agustí (Centre nacional d'anàlisi genòmica) ;
Cáceres, Alejandro (Centre nacional d'anàlisi genòmica) ;
Nascimento, Andrés (Centre nacional d'anàlisi genòmica) ;
García-Cazorla, Àngels (Centre nacional d'anàlisi genòmica) ;
Cueto-González, Anna Mª (Centre nacional d'anàlisi genòmica) ;
Marcé-Grau, Anna (Centre nacional d'anàlisi genòmica) ;
Ruiz Nel Lo, Anna (Centre nacional d'anàlisi genòmica) ;
Martínez-Monseny, Antonio (Centre nacional d'anàlisi genòmica) ;
Sànchez, Aurora (Centre nacional d'anàlisi genòmica) ;
García, Belén (Centre nacional d'anàlisi genòmica) ;
Pérez-Dueñas, Belén (Centre nacional d'anàlisi genòmica) ;
Gel, Bernat (Centre nacional d'anàlisi genòmica) ;
Fusté, Berta (Centre nacional d'anàlisi genòmica) ;
Hernández-Ferrer, Carles (Centre nacional d'anàlisi genòmica) ;
Casasnovas, Carlos (Centre nacional d'anàlisi genòmica) ;
Ortez González, Carlos Ignacio (Centre nacional d'anàlisi genòmica) ;
Arjona, César (Centre nacional d'anàlisi genòmica) ;
Hernando-Davalillo, Cristina (Centre nacional d'anàlisi genòmica) ;
Natera de Benito, Daniel (Centre nacional d'anàlisi genòmica) ;
Picó Amador, Daniel (Centre nacional d'anàlisi genòmica) ;
Gómez-Andrés, David (Centre nacional d'anàlisi genòmica) ;
Yubero, Délia (Centre nacional d'anàlisi genòmica) ;
Pelegrí-Sisó, Dolors (Centre nacional d'anàlisi genòmica) ;
Verdura, Edgard (Centre nacional d'anàlisi genòmica) ;
García-Arumí, Elena (Centre nacional d'anàlisi genòmica) ;
Castellanos, Elisabeth (Centre nacional d'anàlisi genòmica) ;
Gabau, Elisabeth (Centre nacional d'anàlisi genòmica) ;
Tobías, Ester (Centre nacional d'anàlisi genòmica) ;
López-Grondona, Fermina (Centre nacional d'anàlisi genòmica) ;
Cardellach, Francesc (Centre nacional d'anàlisi genòmica) ;
Garcia-Garcia, Francesc Josep (Centre nacional d'anàlisi genòmica) ;
Munell, Francina (Centre nacional d'anàlisi genòmica) ;
Tort, Frederic (Centre nacional d'anàlisi genòmica) ;
Aznar, Gemma (Centre nacional d'anàlisi genòmica) ;
Olivé-Cirera, Gemma (Centre nacional d'anàlisi genòmica) ;
Tell, Gemma (Centre nacional d'anàlisi genòmica) ;
Muñoz-Pujol, Gerard (Centre nacional d'anàlisi genòmica) ;
Paramonov, Ida (Centre nacional d'anàlisi genòmica) ;
Blanco Guillermo, Ignacio (Centre nacional d'anàlisi genòmica) ;
Madrigal, Irene (Centre nacional d'anàlisi genòmica) ;
Valenzuela, Irene (Centre nacional d'anàlisi genòmica) ;
Gut, Ivo (Centre Nacional d'Anàlisi Genòmica) ;
Cusco, Ivon (Centre nacional d'anàlisi genòmica) ;
Trotta, Jean-Rémi (Centre nacional d'anàlisi genòmica) ;
Cruz, Jordi (Centre nacional d'anàlisi genòmica) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Milisenda, José César (Centre nacional d'anàlisi genòmica) ;
Ma Grau, Josep (Centre nacional d'anàlisi genòmica) ;
Garcia-Villoria, Judit (Centre nacional d'anàlisi genòmica) ;
Armstrong, Judith (Centre nacional d'anàlisi genòmica) ;
Cantó, Judith (Centre nacional d'anàlisi genòmica) ;
Sala-Coromina, Júlia (Centre nacional d'anàlisi genòmica) ;
Rodríguez-Revenga, Laia (Centre nacional d'anàlisi genòmica) ;
Alías, Laura (Centre nacional d'anàlisi genòmica) ;
Gort, Laura (Centre nacional d'anàlisi genòmica) ;
Gonzalez-Quereda, L (Centre nacional d'anàlisi genòmica) ;
Costa, Mar (Centre nacional d'anàlisi genòmica) ;
Fernández-Callejo, Marcos (Centre nacional d'anàlisi genòmica) ;
López-Sánchez, Marcos (Centre nacional d'anàlisi genòmica) ;
Álvarez-Mora, Maria Isabel (Centre nacional d'anàlisi genòmica) ;
Gut, Marta (Centre nacional d'anàlisi genòmica) ;
Serrano, Mercedes (Centre nacional d'anàlisi genòmica) ;
Raspall-Chaure, Miquel (Centre nacional d'anàlisi genòmica) ;
Del Toro, Mireia (Centre nacional d'anàlisi genòmica) ;
Bayés, Mònica (Centre nacional d'anàlisi genòmica) ;
Baena Díez, Neus (Centre nacional d'anàlisi genòmica) ;
Spataro, Nino (Centre nacional d'anàlisi genòmica) ;
Capdevila, Núria (Centre nacional d'anàlisi genòmica) ;
Ugarteburu, Olatz (Centre nacional d'anàlisi genòmica) ;
Muñoz-Cabello, Patricia (Centre nacional d'anàlisi genòmica) ;
Romero Duque, Penélope (Centre nacional d'anàlisi genòmica) ;
Rabionet, Raquel (Centre nacional d'anàlisi genòmica) ;
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ;
Calvo-Escalona, Rosa (Centre nacional d'anàlisi genòmica) ;
Urreizti, Roser (Centre nacional d'anàlisi genòmica) ;
Bernal, Sara (Institut d'Investigació Biomèdica Sant Pau) ;
Boronat, Susanna (Institut d'Investigació Biomèdica Sant Pau) ;
Balcells, Susana (Centre nacional d'anàlisi genòmica) ;
Vendrell, Teresa (Centre Nacional d'Anàlisi Genòmica (Catalunya). Undiagnosed Rare Disease Program of Catalonia-URD-Cat) ;
Universitat Autònoma de Barcelona
Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation and future reinterpretation. [...]
2022 - 10.1016/j.jmoldx.2022.02.003
Journal of Molecular Diagnostics, Vol. 24 Núm. 5 (may 2022) , p. 529-542
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7 p, 691.7 KB |
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence
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Verdura, Edgard (Instituto de Salud Carlos III) ;
Senger, Bruno (Université de Strasbourg 1) ;
Raspall-Chaure, Miquel (Hospital Universitari Vall d'Hebron) ;
Schlüter, Agatha (Instituto de Salud Carlos III) ;
Launay, Nathalie (Instituto de Salud Carlos III) ;
Ruiz, Montserrat (Instituto de Salud Carlos III) ;
Casasnovas, Carlos (Hospital Universitari de Bellvitge) ;
Rodriguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Macaya Ruiz, Alfons (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Becker, Hubert Dominique (Université de Strasbourg 1) ;
Pujol, Aurora 1968- (Institució Catalana de Recerca i Estudis Avançats)
Aminoacyl-tRNA synthetases (ARS) are key enzymes catalysing the first reactions in protein synthesis, with increasingly recognised pleiotropic roles in tumourgenesis, angiogenesis, immune response and lifespan. [...]
2022 - 10.1136/jmg-2022-108529
Journal of medical genetics, Vol. 59 (august 2022) , p. 1227-1233
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5.
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12 p, 884.6 KB |
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
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Schlüter, Agatha (Hospital Universitari Vall d'Hebron) ;
Rodríguez-Palmero, Agustí (Hospital Universitari Vall d'Hebron) ;
Verdura, Edgard (Hospital Universitari Vall d'Hebron) ;
Vélez-Santamaría, Valentina (Hospital Universitari Vall d'Hebron) ;
Ruiz, Montserrat (Hospital Universitari Vall d'Hebron) ;
Fourcade, Stéphane (Hospital Universitari Vall d'Hebron) ;
Planas-Serra, Laura (Hospital Universitari Vall d'Hebron) ;
Martínez, Juan José (Hospital Universitari Vall d'Hebron) ;
Guilera, Cristina (Hospital Universitari Vall d'Hebron) ;
Girós, Marisa (Hospital Universitari Vall d'Hebron) ;
Artuch, R. (Hospital Universitari Vall d'Hebron) ;
Yoldi-Petri, María Eugenia (Hospital Universitari Vall d'Hebron) ;
O'Callaghan, Maria del Mar (Hospital Universitari Vall d'Hebron) ;
García-Cazorla, Angels (Hospital Universitari Vall d'Hebron) ;
Armstrong, Judith (Hospital Universitari Vall d'Hebron) ;
Marti, Itxaso (Hospital Universitari Vall d'Hebron) ;
Mondragón Rezola, Elisabet (Hospital Universitari Vall d'Hebron) ;
Redin, Claire (Hospital Universitari Vall d'Hebron) ;
Mandel, Jean Louis (Hospital Universitari Vall d'Hebron) ;
Conejo, David (Hospital Universitari Vall d'Hebron) ;
Sierra-Córcoles, Concepción (Hospital Universitari Vall d'Hebron) ;
Beltran i Agulló, Sergi (Hospital Universitari Vall d'Hebron) ;
Gut, Marta (Hospital Universitari Vall d'Hebron) ;
Vázquez, Elida (Hospital Universitari Vall d'Hebron) ;
Del Toro, Mireia (Hospital Universitari Vall d'Hebron) ;
Troncoso, Mónica (Hospital Universitari Vall d'Hebron) ;
Pérez-Jurado, Luis Alberto (Hospital Universitari Vall d'Hebron) ;
González Gutiérrez-Solana, Luis (Hospital Universitari Vall d'Hebron) ;
López de Munain, Adolfo (Hospital Universitari Vall d'Hebron) ;
Casasnovas, Carlos (Hospital Universitari Vall d'Hebron) ;
Aguilera-Albesa, Sergio (Hospital Universitari Vall d'Hebron) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ;
Pujol, Aurora 1968- (Hospital Universitari Vall d'Hebron) ;
Universitat Autònoma de Barcelona
Genetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. [...]
2022 - 10.1212/WNL.0000000000013278
Neurology, Vol. 98 (march 2022) , p. e912-e923
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6.
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10 p, 1.3 MB |
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
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Hochberg, Irit (Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa) ;
Demain, Leigh A. M. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Richer, Julie (Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa) ;
Thompson, Kyle (Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University) ;
Urquhart, Jill E. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Rea, Alessandro (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Pagarkar, Waheeda (Royal National ENT and Eastman Dental Hospital, University College London Hospitals) ;
Rodríguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Schlüter, Agatha (Institut d'Investigació Biomèdica de Bellvitge) ;
Verdura, Edgard (Institut d'Investigació Biomèdica de Bellvitge) ;
Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ;
Quijada-Fraile, Pilar (Hospital Universitario 12 de Octubre (Madrid)) ;
Amberger, Albert (Institute of Human Genetics, Medical University Innsbruck) ;
Deutschmann, Andrea J. (Institute of Human Genetics, Medical University Innsbruck) ;
Demetz, Sandra (Institute of Human Genetics, Medical University Innsbruck) ;
Gillespie, Meredith (Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa) ;
Belyantseva, Inna A. (Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD) ;
McMillan, Hugh J. (Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa) ;
Barzik, Melanie (Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD) ;
Beaman, Glenda M. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Motha, Reeya (The Royal London Hospital) ;
Ng, Kah Ying (Institute of Biotechnology, University of Helsinki) ;
O'Sullivan, James (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Williams, Simon G. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Bhaskar, Sanjeev S. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ;
Lawrence, Isabella R. (Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University) ;
Jenkinson, Emma M. (Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester) ;
Zambonin, Jessica L. (Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa) ;
Blumenfeld, Zeev (Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa) ;
Yalonetsky, Sergey (Department of Pediatric Cardiology, Rambam Health Care Campus, Haifa) ;
Oerum, Stephanie (Newcastle MX Structural Biology Laboratory, Newcastle University) ;
Rossmanith, Walter (Center for Anatomy and Cell Biology, Medical University of Vienna) ;
Yue, Wyatt W. (Newcastle MX Structural Biology Laboratory, Newcastle University) ;
Zschocke, Johannes (Institute of Human Genetics, Medical University Innsbruck) ;
Munro, Kevin J. (Manchester University NHS Foundation Trust) ;
Battersby, Brendan J. (Institute of Biotechnology, University of Helsinki) ;
Friedman, Thomas B. (Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD) ;
Taylor, Robert W. (Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University) ;
O'Keefe, Raymond T. (Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester) ;
Newman, William G. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust)
Human mitochondrial RNase P (mt-RNase P) is responsible for 5' end processing of mitochondrial precursor tRNAs, a vital step in mitochondrial RNA maturation, and is comprised of three protein subunits: TRMT10C, SDR5C1 (HSD10), and PRORP. [...]
2021 - 10.1016/j.ajhg.2021.10.002
American Journal of Human Genetics, Vol. 108 (november 2021) , p. 2195-2204
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18 p, 1.3 MB |
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
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Zhang, Qian (St. Rockefeller University) ;
Liu, Zhiyong (Rockefeller University) ;
Moncada-Velez, Marcela (Rockefeller University) ;
Chen, Jie (Rockefeller University) ;
Ogishi, Masato (Rockefeller University) ;
Bigio, Benedetta (Rockefeller University) ;
Yang, Rui (Rockefeller University) ;
Arias, Andrés Augusto (Universidad de Antioquia) ;
Zhou, Qinhua (Rockefeller University) ;
Han, Ji Eun (Rockefeller University) ;
Ugurbil, Aileen Camille (Rockefeller University) ;
Zhang, Peng (Rockefeller University) ;
Rapaport, Franck (Rockefeller University) ;
Li, Juan (Rockefeller University) ;
Spaan, András N. (University Medical Center Utrecht) ;
Boisson, Bertrand (University of Paris) ;
Boisson-Dupuis, S. (University of Paris) ;
Bustamante, J. (Necker Hospital for Sick Children) ;
Puel, A. (University of Paris) ;
Ciancanelli, Michael J (Turnstone Biologics) ;
Zhang, Shen-Ying (University of Paris) ;
Béziat, V. (University of Paris) ;
Jouanguy, E. (University of Paris) ;
Abel, Laurent (INSERM U1163. University of Paris) ;
Cobat, A. (University of Paris) ;
Casanova, Jean-Laurent (Rockefeller University) ;
Bastard, Paul (University of Paris) ;
Korol, Cecilia (Necker Hospital for Sick Children, Paris) ;
Rosain, Jérémie (University of Paris) ;
Philippot, Q. (APHP Tenon Hospital) ;
Chbihi, Marwa (University of Paris. Imagine Institute) ;
Lorenzo, L. (University of Paris. Imagine Institute) ;
Bizien, L. (University of Paris. Imagine Institute) ;
Neehus, A. L. (University of Paris. Imagine Institute) ;
Kerner, G. (University of Paris. Imagine Institute) ;
Seeleuthner, Y. (University of Paris. Imagine Institute) ;
Manry, J. (University of Paris. Imagine Institute) ;
Le Voyer, T. (University of Paris. Imagine Institute) ;
Boisson, Bertrand (University of Paris. Imagine Institute) ;
Boisson-Dupuis, S. (University of Paris. Imagine Institute) ;
Bustamante, J. (Necker Hospital for Sick Children. AP-HP) ;
Puel, A. (University of Paris. Imagine Institute) ;
Zhang, S. Y. (University of Paris. Imagine Institute) ;
Béziat, V. (University of Paris. Imagine Institute) ;
Jouanguy, E. (University of Paris) ;
Abel, Laurent (University of Paris) ;
Cobat, A. (University of Paris) ;
Bastard, Paul (University of Paris) ;
Rosain, J. (University of Paris) ;
Philippot, Q. (APHP Tenon Hospital) ;
Chbihi, M. (University of Paris) ;
Lorenzo, L. (University of Paris) ;
Bizien, L. (University of Paris) ;
Neehus, A. L. (University of Paris) ;
Kerner, G. (University of Paris) ;
Seeleuthner, Y. (University of Paris) ;
Manry, J. (University of Paris) ;
Le Voyer, T. (University of Paris) ;
Boisson, Bertrand (University of Paris) ;
Boisson-Dupuis, S. (University of Paris) ;
Bustamante, J. (Necker Hospital for Sick Children) ;
Puel, A. (University of Paris) ;
Zhang, S. Y. (University of Paris) ;
Béziat, Vivien (University of Paris) ;
Jouanguy, Emmanuelle (University of Paris) ;
Abel, Laurent (INSERM U1163. University of Paris) ;
Cobat, Aurélie (University of Paris) ;
Le Pen, Jérémie (Rockefeller University) ;
Schneider, W. M. (Rockefeller University) ;
Razooky, B. S. (Rockefeller University) ;
Hoffmann, Hans-Heinrich (Rockefeller University) ;
Michailidis, E. (Rockefeller University) ;
Rice, Charles M. (Rockefeller University) ;
Sabli, Ira K. D. (Imperial College London) ;
Hodeib, Stephanie (Imperial College London) ;
Sancho Shimizu, Vanessa (Imperial College London) ;
Bilguvar, Kaya (Yale School of Medicine) ;
Ye, Junqiang (Columbia University) ;
Bolze, Alexandre (Helix) ;
Zhang, Y. (NIAID Clinical Genomics Program) ;
Notarangelo, Luigi (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ;
Su, H. C. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ;
Zhang, Y. (NIAID Clinical Genomics Program) ;
Notarangelo, L. D. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ;
Su, H. C. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ;
Onodi, Fanny (Université de Paris) ;
Korniotis, Sarantis (Université de Paris) ;
Karpf, Léa (Université de Paris. Institut de Recherche Saint-Louis. INSERM U976. Hôpital Saint-Louis) ;
Soumelis, V. (AP-HP. Hôpital Saint-Louis. Laboratoire d'Immunologie) ;
Bonnet-Madin, Lucie (Université de Paris. Institut de Recherche Saint-Louis) ;
Amara, A. (Université de Paris. Institut de Recherche Saint-Louis) ;
Dorgham, Karim (Sorbonne Université. Inserm. Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI PARIS). Assistance Publique-Hôpitaux de Paris (AP-HP). Hôpital Pitié-Salpêtrière) ;
Gorochov, Guy (Sorbonne Université) ;
Smith, N. (Institut Pasteur) ;
Duffy, Darragh (Institut Pasteur) ;
Moens, L. (University Hospitals Leuven (Bèlgica)) ;
Meyts, I. (KU Leuven. Department of Immunology. Microbiology and Transplantation) ;
Meade, P. (Department of Microbiology) ;
Garcia-Sastre, Adolfo (Tisch Cancer Institute) ;
Krammer, Florian (Department of Microbiology) ;
Corneau, A. (Sorbonne Université) ;
Masson, C. (Imagine Institute) ;
Schmitt, Y. (Imagine Institute) ;
Schluter, A. (Neurometabolic Diseases Laboratory) ;
Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ;
Khan, T. (Sidra Medicine) ;
Marr, Nico (Hamad Bin Khalifa University) ;
Fellay, Jacques (Swiss Federal Institute of Technology Lausanne) ;
Roussel, L. (McGill University Health Centre) ;
Vinh, D. C. (McGill University Health Centre) ;
Shahrooei, M. (Saeed Pathobiology and Genetic Lab) ;
Alosaimi, M. F. (College of Medicine. King Saud University) ;
Alsohime, F. ;
Hasanato, R. (Department of Pathology and Laboratory Medicine. College of Medicine. King Saud University) ;
Mansouri, D. (Shahid Beheshti University of Medical Sciences) ;
Al-Saud, H. (National Center of Genomics Technology. King Abdulaziz City for Science and Technology) ;
Almourfi, F. (National Center of Genomics Technology. King Abdulaziz City for Science and Technology) ;
Al-Mulla, F. (Kuwait University) ;
Al-Muhsen, S. Z. (Immunology Research Laboratory. Department of Pediatrics. College of Medicine. King Saud University Medical City. King Saud University) ;
Al Turki, S. (Cancer & Blood Research. King Abdullah International Medical Research Center) ;
van de Beek, D. (Amsterdam UMC. University Medical Center) ;
Biondi, A. (Pediatric Departement. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale) ;
Bettini, L. R. (Pediatric Departement. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale) ;
D'Angio, Mariella (Pediatric Departement. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale) ;
Bonfanti, Paolo (Department of Infectious Diseases. San Gerardo Hospital. University of Milano-Bicocca) ;
Imberti, L. (CREA Laboratory. Diagnostic Laboratory. ASST Spedali Civili di Brescia) ;
Sottini, A. (CREA Laboratory. Diagnostic Laboratory. ASST Spedali Civili di Brescia) ;
Paghera, S. (CREA Laboratory. Diagnostic Laboratory. ASST Spedali Civili di Brescia) ;
Quiros-Roldan, E. (Department of Infectious and Tropical Diseases. University of Brescia. ASST Spedali di Brescia) ;
Rossi, C. (Medical Officer. ASST Spedali Civili di Brescia) ;
Oler, A. J. (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ;
Tompkins, M. F. (PRIMER. Uniformed Services University of the Health Sciences) ;
Alba, Camille (PRIMER. Uniformed Services University of the Health Sciences) ;
Dalgard, C. L. (American Genome Center. Uniformed Services University of the Health Sciences) ;
Vandernoot, Isabelle (Center of Human Genetics. Hôpital Erasme. Université Libre de Bruxelles) ;
Smits, Guillaume (Center of Human Genetics. Hôpital Erasme. Université Libre de Bruxelles) ;
Goffard, Jean-Christope (Department of Internal Medicine. Hôpital Erasme. Université Libre de Bruxelles) ;
Migeotte, Isabelle (Hôpital Erasme) ;
Haerynck, Filomeen (Department of Paediatric Immunology and Pulmonology. Centre for Primary Immunodeficiency Ghent (CPIG). PID Research Lab. Jeffrey Modell Diagnosis and Research Centre. Ghent University Hospital) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ;
Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ;
Morange, Pierre-Emmanuel (Aix Marseille Univ) ;
Keles, Sevgi (Meram Medical Faculty. Necmettin Erbakan University. Meram Medical Faculty) ;
Çölkesen, Fatma (Department of Infectious Diseases and Clinical Microbiology. Konya Training and Research Hospital) ;
Ozcelik, Tayfun (Bilkent University) ;
Yasar, Tayfun Kart (Departments of Infectious Diseases and Clinical Microbiology. Bakirkoy Dr. Sadi Konuk Training and Research Hospital. University of Health Sciences) ;
Senoglu, Sevtap (Departments of Infectious Diseases and Clinical Microbiology. Bakirkoy Dr. Sadi Konuk Training and Research Hospital. University of Health Sciences) ;
Karabela, Şemsi Nur (Departments of Infectious Diseases and Clinical Microbiology. Bakirkoy Dr. Sadi Konuk Training and Research Hospital. University of Health Sciences) ;
Rodríguez-Gallego, Carlos (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Novelli, Giuseppe (University of Rome "Tor Vergata) ;
Hraiech, Sami (Intensive Care Unit) ;
Tandjaoui-Lambiotte, Yacine (Avicenne Hospital) ;
Duval, Xavier (Hôpital Bichat Claude Bernard) ;
Laouénan, Cédric (Hôpital Bichat) ;
Duval, X. (Hôpital Bichat Claude Bernard) ;
Snow, Andrew (Uniformed Services University of the Health Sciences, Bethesda) ;
Dalgard, Clifton L. (American Genome Center) ;
Milner, Joshua D. (Columbia University) ;
Mogensen, Trine Hyrup (Aarhus University) ;
Spaan, András N. (Univer-sity Medical Center Utrecht) ;
Bustamante, Jacinta (Necker Hospital for Sick Children) ;
Ciancanelli, Michael J. (Turnstone Biologics) ;
Maniatis, Tom (New York Genome Center) ;
Soumelis, Vassili (Hôpital Saint-Louis, Paris) ;
Nussenzweig, Michel (Howard Hughes Medical Institute) ;
Garcia-Sastre, Adolfo (Icahn School of Medicine) ;
Lifton, Richard P. (Yale School of Medicine) ;
Foti, Giuseppe (University of Milano-Bicocca) ;
Bellani, G. (University of Milano-Bicocca) ;
Citerio, Giuseppe (University of Milano-Bicocca) ;
Contro, E. (University of Milano-Bicocca) ;
Pesci, Alberto (University of Milano-Bicocca.) ;
Valsecchi, M. G. (University of Milano-Bicocca) ;
Cazzaniga, M. (University of Milano-Bicocca) ;
Abad Capa, Jorge (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Blanco Guillermo, Ignacio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Rodrigo, C. (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Aguilera-Albesa, Sergio (Complejo Hospitalario de Navarra) ;
Akcan, O. M. (Necmettin Erbakan University) ;
Darazam, I. A. (Shahid Beheshti University of Medical Sciences) ;
Aldave, J. C. (Hospital Nacional Edgardo Rebagliati Martins) ;
Ramos, M. A. (Parc Sanitari Sant Joan de Déu) ;
Nadji, S. A. (Shahid Beheshti University of Medical Sciences) ;
Alkan, G. (Selcuk University) ;
Allardet-Servent, J. (Hôpital Européen) ;
Allende-Martinez, Luis M (Hospital Universitario 12 de Octubre (Madrid)) ;
Alsina, L. (Hospital Sant Joan de Déu (Manresa)) ;
Alyanakian, M. A. (Necker Hospital for Sick Children) ;
Amador-Borrero, B. (Université de Paris) ;
Mouly, S. (Internal Medicine Department. Hôpital Lariboisière. APHP. Université de Paris) ;
Sene, D. (Internal Medicine Department. Hôpital Lariboisière. APHP. Université de Paris) ;
Amoura, Zahir (Internal Medicine Department. Pitié-Salpétrière Hospital) ;
Mathian, Alexis (Internal Medicine Department. Pitié-Salpétrière Hospital) ;
Antolí, Arnau (Hospital Universitari de Bellvitge) ;
Blanch, G. R. (Hospital Universitari de Bellvitge) ;
Riera, J. S. (Hospital Universitari de Bellvitge) ;
Moreno, X. S. (Hospital Universitari de Bellvitge) ;
Arslan, S. (Necmettin Erbakan University) ;
Assant, S. (Lyon Sud Hospital) ;
Auguet, Teresa (Hospital Universitari Joan XXIII de Tarragona) ;
Azot, A. (Private Practice) ;
Bajolle, F. (Necker Hospital for Sick Children) ;
Bustamante, J. (Necker Hospital for Sick Children) ;
Lévy, R. (Necker Hospital for Sick Children) ;
Oualha, M. (Necker Hospital for Sick Children) ;
Baldolli, A. (Department of Infectious Diseases) ;
Ballester Devis, Maria (Consorcio Hospital General Universitario) ;
Feldman, H. B. (Tel Aviv University) ;
Barrou, B. (Sorbonne Université.) ;
Beurton, Alexandra (Hôpital Pitié-Salpêtrière) ;
Bilbao, A. (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Blanchard-Rohner, G. (Geneva University Hospitals (Suïssa)) ;
Blandinières, A. (Georges Pompidou Hospital) ;
Rivet, N. (Georges Pompidou Hospital) ;
Blázquez-Gamero, Daniel (Hospital Universitario 12 de Octubre (Madrid)) ;
Bloomfield, M. (Motol University Hospital) ;
Bolivar-Prados, Mireia (Hospital de Mataró. Consorci Sanitari del Maresme) ;
Clavé i Civit, Pere (rie, R.) ;
Bosteels, C. (Universitair Ziekenhuis Gent) ;
Lambrecht, B. N. (Universitair Ziekenhuis Gent) ;
van Braeckel, E. (Universitair Ziekenhuis Gent) ;
Bousfiha, Ahmed A (Averroes University Hospital D'Inflammation et d'Allergie. Hassann II University) ;
Bouvattier, C. (Endocrinology Unit. APHP Hôpitaux Universitaires Paris-Sud) ;
Vincent, A. (Endocrinology Unit. APHP Hôpitaux Universitaires Paris-Sud) ;
Boyarchuk, O. (I. Horbachevsky Ternopil National Medical University) ;
Bueno, M. R. P. (University of São Paulo) ;
Castro, M. V. (University of São Paulo) ;
Matos, L. R. B. (University of São Paulo) ;
Zatz, M. (Human Genome and Stem-Cell Research Center. University of São Paulo) ;
Agra, J. J. C. (Hospital Universitario Insular de Gran Canaria) ;
Calimli, S. (Konya State Hospital) ;
Capra, R. (Spedali Civili) ;
Carrabba, M. (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico) ;
Fabio, G. (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico) ;
Casasnovas, Carlos (Hospital Universitari de Bellvitge) ;
Vélez-Santamaria, V. (Hospital Universitari de Bellvitge) ;
Caseris, M. (Hopital Robert Debré) ;
Falck, A. (Hopital Robert Debré) ;
Poncelet, G. (Hopital Robert Debré) ;
Castelle, M. (Necker Enfants Malades Hospital) ;
Castelli, F. (University of Brescia) ;
de Vera, M. C. (Canarian Health System) ;
Catherinot, E. (Hôpital Foch) ;
Chalumeau, M. (Necker Hospital for Sick Children) ;
Toubiana, J. (Necker Hospital for Sick Children) ;
Charbit, B. (Pasteur Institute) ;
Li, Z. (Pasteur Institute) ;
Pellegrini, S. (Pasteur Institute) ;
Cheng, M. P. (McGill University Health Centre) ;
Clotet Sala, Bonaventura (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Codina, A. (Institut de Recerca Sant Joan de Déu) ;
Çölkesen, F. (Necmettin Erbakan University) ;
Çölkesen, F. (Konya Training and Research Hospital) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ;
Comarmond, C. (Pitié-Salpêtrière Hospital) ;
Dalmau, David (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Darley, D. R. (Vincent's Hospital Darlinghurst) ;
Dauby, N. (Université Libre de Bruxelles) ;
Dauger, S. (Robert-Debré University Hospital) ;
Le Bourgeois, F. (Robert-Debré University Hospital) ;
Levy, M. (Robert-Debré University Hospital) ;
de Pontual, L. (Hôpital Jean Verdier) ;
Dehban, A. (Sina Medical Complex) ;
Delplancq, G. (Centre de Génétique Humaine) ;
Demoule, A. (Sorbonne Université Médecine) ;
Diehl, J. L. (Georges Pompidou Hospital) ;
Dobbelaere, S. (AZ Delta) ;
Durand, Sophie (Institut Jérôme Lejeune) ;
Mircher, C. (Institut Jérôme Lejeune) ;
Rebillat, A. S. (Institut Jérôme Lejeune) ;
Vilaire, M. E. (Institut Jérôme Lejeune) ;
Eldars, W. (DMansoura University) ;
Elgamal, M. (Mansoura University) ;
Elnagdy, M. H. (Mansoura University) ;
Emiroglu, M. (Selcuk University) ;
Erdeniz, E. H. (Ondokuz Mayıs University) ;
Aytekin, S. E. (Necmettin Erbakan University) ;
Euvrard, R. (Centre Hospitalier Fleyriat) ;
Evcen, R. (Necmettin Erbakan University) ;
Faivre, L. (CHU Dijon) ;
Fartoukh, M. (APHP Tenon Hospital) ;
Philippot, Q. (APHP Tenon Hospital) ;
Faure, M. (Sorbonne Universités) ;
Arquero, M. F. (Hospital Clínico San Carlos (Madrid)) ;
Flores, Carlos (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ;
Francois, B. (CHU Limoges) ;
Fumadó, Victoria (Universitat de Barcelona) ;
Fusco, Francesca (Institute of Genetics and Biophysics "Adriano Buzzati-Traverso) ;
Ursini, M. V. (Institute of Genetics and Biophysics "Adriano Buzzati-Traverso) ;
Solis, B. G. (Hospital Universitario La Paz (Madrid)) ;
de Diego, R. P. (Hospital Universitario La Paz (Madrid)) ;
van Den Rym, A. M. (Hospital Universitario La Paz (Madrid)) ;
Gaussem, P. (Department of Hematology. APHP. Hopital Européen Georges Pompidou. Inserm UMR-S1140) ;
Gil-Herrera, J. (Hos-pital General Universitario. Instituto de Investigación Sanitaria "Gregorio Marañón) ;
Gilardin, L. (Bégin Military Hospital) ;
Girona-Alarcón, Mònica (Hospital Sant Joan de Déu (Manresa)) ;
Goffard, J. C. (Université Libre de Bruxelles) ;
Gok, F. (Necmettin Erbakan University) ;
Yosunkaya, A. (Necmettin Erbakan University) ;
Thy, M. (Center for Clinical Investigation. Assistance Publique-Hôpitaux de Paris. Bichat-Claude Bernard University Hospital) ;
van Agtmael, Michiel (Department of Infectious Diseases. Amsterdam UMC) ;
Bomers, Marije (Department of Infectious Diseases. Amsterdam UMC) ;
Chouchane, Osoul (Department of Infectious Diseases. Amsterdam UMC) ;
Geerlings, Suzanne (Department of Infectious Diseases. Amsterdam UMC) ;
Goorhuis, Bram (Department of Infectious Diseases. Amsterdam UMC) ;
Grobusch, Martin P. (Department of Infectious Diseases. Amsterdam UMC) ;
Harris, Vanessa (Department of Infectious Diseases. Amsterdam UMC) ;
Hermans, Sabine M. (Department of Infectious Diseases. Amsterdam UMC) ;
Hovius, Joppe W. (Department of Infectious Diseases. Amsterdam UMC) ;
Nellen, Jeaninne (Department of Infectious Diseases. Amsterdam UMC) ;
Peters, Edgar (Department of Infectious Diseases. Amsterdam UMC) ;
van der Poll, Tom (Department of Infectious Diseases. Amsterdam UMC) ;
Prins, Jan M. (Department of Infectious Diseases. Amsterdam UMC) ;
Reijnders, Tom (Department of Infectious Diseases. Amsterdam UMC) ;
Schinkel, Michiel (Department of Infectious Diseases. Amsterdam UMC) ;
Sigaloff, Kim (Department of Infectious Diseases. Amsterdam UMC) ;
Stijnis, Cornelis S. (Department of Infectious Diseases. Amsterdam UMC) ;
van der Valk, Marc (Department of Infectious Diseases. Amsterdam UMC) ;
van Vugt, Michèle (Department of Infectious Diseases. Amsterdam UMC) ;
Joost Wiersinga, W. (Department of Infectious Diseases. Amsterdam UMC) ;
Algera, Anna Geke (Department of Intensive Care. Amsterdam UMC) ;
van Baarle, Frank (Department of Intensive Care. Amsterdam UMC) ;
Bos, Lieuwe D.. (Department of Intensive Care. Amsterdam UMC) ;
Botta, Michela (Department of Intensive Care. Amsterdam UMC) ;
de Bruin, Sanne (Department of Intensive Care. Amsterdam UMC) ;
Bulle, Esther (Department of Intensive Care. Amsterdam UMC) ;
Elbers, Paul (Department of Intensive Care. Amsterdam UMC) ;
Fleuren, Lucas (Department of Intensive Care. Amsterdam UMC) ;
Girbes, Armand (Department of Intensive Care. Amsterdam UMC) ;
Hagens, Laura (Department of Intensive Care. Amsterdam UMC) ;
Heunks, Leo (Department of Intensive Care. Amsterdam UMC) ;
Horn, Janneke (Department of Intensive Care. Amsterdam UMC) ;
van Mourik, Niels (Department of Intensive Care. Amsterdam UMC) ;
Paulus, Frederique (Department of Intensive Care. Amsterdam UMC) ;
Raasveld, Jorinde (Department of Intensive Care. Amsterdam UMC) ;
Schultz, Marcus J. (Department of Intensive Care. Amsterdam UMC) ;
Smit, Marry (Department of Intensive Care. Amsterdam UMC) ;
Stilma, Willemke (Department of Intensive Care. Amsterdam UMC) ;
Thoral, Patrick (Department of Intensive Care. Amsterdam UMC) ;
Tsonas, Anissa M (Department of Intensive Care. Amsterdam UMC) ;
de Vries, Heder (Department of Intensive Care. Amsterdam UMC) ;
Bax, Diane (Experimental Immunology. Amsterdam UMC) ;
Cloherty, Alex (Experimental Immunology. Amsterdam UMC) ;
Beudel, Martijn (Department of Neurology. Amsterdam UMC. Amsterdam Neuroscience) ;
Brouwer, Matthijs C. (Department of Neurology. Amsterdam UMC. Amsterdam Neuroscience) ;
Koning, Rutger (Department of Neurology. Amsterdam UMC. Amsterdam Neuroscience) ;
van de Beek, Diederik (Amsterdam UMC. University Medical Center) ;
Bogaard, H. J. (Department of Pulmonology. Amsterdam UMC) ;
de Brabander, J. (Department of Infectious Diseases. Amsterdam UMC) ;
de Bree, G. (Department of Infectious Diseases. Amsterdam UMC) ;
Bugiani, Marianna (Department of Pathology. Amsterdam UMC) ;
Geerts, Bart (Department of Anesthesiology. Amsterdam UMC) ;
Hollmann, Markus W. (Department of Anesthesiology. Amsterdam UMC) ;
Preckel, Benedikt (Department of Anesthesiology. Amsterdam UMC) ;
Veelo, Denise (Department of Anesthesiology. Amsterdam UMC) ;
Geijtenbeek, Theo (Department of Experimental Immunology. Amsterdam UMC) ;
Hafkamp, Florianne (Department of Experimental Immunology. Amsterdam UMC) ;
Hamann, Jorg (Amsterdam UMC Biobank Core Facility. Amsterdam UMC) ;
Hemke, Robert (Department of Radiology. Amsterdam UMC) ;
de Jong, Menno D. (Department of Medical Microbiology. Amsterdam UMC) ;
Schuurman, Alex (Department of Internal Medicine. Amsterdam UMC) ;
Teunissen, Charlotte (Neurochemical Laboratory. Amsterdam UMC) ;
Vlaar, Alexander P. J. (Department of Intensive Care. Amsterdam UMC) ;
Wouters, Dorien (Department of Clinical Chemistry. Amsterdam UMC) ;
Zwinderman, A. H. (Department of Clinical Epidemiology. Biostatistics and Bioinformatics. Amsterdam UMC) ;
Abel, Laurent (INSERM U1163. University of Paris. Imagine Institute) ;
Aiuti, Alessandro (San Raffaele Telethon Institute for Gene Therapy. IRCCS Ospedale San Raffaele) ;
Muhsen, Saleh Al (King Saud University) ;
Al-Mulla, Fahd (Kuwait University) ;
Anderson, Mark S. (University of California. San Francisco) ;
Feldman, Hagit Baris (Genetics Institute. Tel Aviv Sourasky Medical Center. Sackler Faculty of Medicine. Tel Aviv University) ;
Bogunovic, Dusan (Icahn School of Medicine) ;
Itan, Yuval (Icahn School of Medicine) ;
Bolze, Alexandre (Helix) ;
Cirulli, Elizabeth (Helix) ;
Barrett, Kelly Schiabor . (Helix) ;
Washington, Nicole (Helix) ;
Bondarenko, Anastasiia (Shupyk National Medical Academy for Postgraduate Education) ;
Bousfiha, Ahmed A. (Clinical Immunology Unit. Pediatric Infectious Disease Departement. Faculty of Medicine and Pharmacy. Averroes University Hospital. LICIA Laboratoire d'Immunologie Clinique. D'Inflammation et d'Allergie. Hassann II University) ;
Brodin, Petter (Karolinska Institutet (Estocolm, Suècia)) ;
Bryceson, Yenan (Karolinska Institutet (Estocolm, Suècia)) ;
Bustamante, Carlos D. (Stanford University) ;
Butte, Manish J (University of California) ;
Casari, Giorgio (Medical Genetics. IRCCS Ospedale San Raffaele) ;
Chakravorty, Samya (Emory University. Department of Pediatrics. Children's Healthcare of Atlanta) ;
Christodoulou, John (Murdoch Children's Research Institute) ;
Le Mestre, S. (University of São Paulo) ;
Condino-Neto, Antonio (University of São Paulo) ;
Cooper, Megan A. (Washington University School of Medicine) ;
Dalgard, Clifton L. (American Genome Center. Uniformed Services University of the Health Sciences) ;
David, Alessia (Centre for Bioinformatics and System Biology. Department of Life Sciences. Imperial College London. South Kensington Campus) ;
DeRisi, Joseph L. (Chan Zuckerberg Biohub) ;
Desai, Murkesh (Bai Jerbai Wadia Hospital for Children) ;
Drolet, Beth A. (School of Medicine and Public Health. University of Wisconsin) ;
Espinosa, Sara (Instituto Nacional de Pediatria. (National Institute of Pediatrics)) ;
Fellay, Jacques (Swiss Federal Institute of Technology Lausanne) ;
Flores, Carlos (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ;
Franco, Jose Luis (University of Antioquia) ;
Gregersen, Peter K. (Feinstein Institute for Medical Research. Northwell Health USA) ;
Haerynck, Filomeen (Department of Paediatric Immunology and Pulmonology. Centre for Primary Immunodeficiency Ghent (CPIG). PID Research Lab. Jeffrey Modell Diagnosis and Research Centre. Ghent University Hospital) ;
Hagin, David (Genetics Institute. Tel Aviv Sourasky Medical Center) ;
Halwani, Rabih (Sharjah Institute of Medical Research. College of Medicine. University of Sharjah) ;
Heath, Jim (Institute for Systems Biology) ;
Henrickson, Sarah E. (Children's Hospital of Philadelphia (Pennsilvània)) ;
Hsieh, Elena (Anschutz Medical Campus) ;
Imai, Kohsuke (Riken) ;
Karamitros, Timokratis (Hellenic Pasteur Institute) ;
Kisand, Kai (University of Tartu) ;
Ku, Cheng-Lung. (Chang Gung University) ;
Lau, Yu-Lung (University of Hong Kong) ;
Ling, Yun (Shanghai Public Health Clinical Center. Fudan University) ;
Lucas, Carrie L. (Yale School of Medicine) ;
Mansouri, Davoud (Shahid Beheshti University of Medical Sciences) ;
Marodi, Laszlo (Semmelweis University Budapest) ;
Milner, Joshua (Columbia University Medical Center) ;
Mironska, Kristina (University Clinic for Children's Diseases) ;
Morio, Tomohiro (Tokyo Medical & Dental University Hospital) ;
Notarangelo, Luigi (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ;
Su, Helen C. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ;
Novelli, Antonio (Bambino Gesù Children's Hospital) ;
Novelli, Giuseppe (Department of Biomedicine and Prevention. University of Rome "Tor Vergata) ;
O'Farrelly, Cliona (Trinity College) ;
Okada, Satoshi (Hiroshima University) ;
Ozcelik, Tayfun (Bilkent University) ;
Perez de Diego, Rebeca (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Planas, Anna M. (IIBB-CSIC. IDIBAPS) ;
Prando, Carolina (Faculdades Pequeno Príncipe. Instituto de Pesquisa Pelé Pequeno Príncipe) ;
Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ;
Quintana-Murci, Luis (Institut Pasteur. CNRS. UMR 2000. Collège de France) ;
Renia, Laurent (Infectious Diseases Horizontal Technology Center. Singapore Immunology Network. Agency for Science Technology (A*STAR)) ;
Renieri, Alessandra (Medical Genetics. University of Siena) ;
Rodríguez-Gallego, Carlos (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Sancho Shimizu, Vanessa (Imperial College London) ;
Sankaran, Vijay (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Shahrooei, Mohammed (Saeed Pathobiology and Genetic Lab) ;
Snow, Andrew (Uniformed Services University of the Health Sciences) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ;
Tangye, Stuart (Garvan Institute of Medical Research (Darlinghurst, Austràlia)) ;
Turvey, Stuart (University of British Columbia) ;
Uddin, Furkan (Holy Family Red Crescent Medical College. Centre for Precision Therapeutics. NeuroGen Children's Healthcare. Genetics and Genomic Medicine Centre. NeuroGen Children's Healthcare) ;
Uddin, Mohammed J. (Centre for Applied Genomics. Department of Genetics and Genome Biology. Hospital for Sick Children) ;
van de Beek, Diederik (Amsterdam UMC. University Medical Center) ;
Vazquez, Sara E. (University of California) ;
Vinh, Donald C. (McGill University Health Centre) ;
von Bernuth, Horst (Charité-Berlin University Hospital Center) ;
Zawadzki, Pawel (Molecular Biophysics Division. Faculty of Physics. A. Mickiewicz University) ;
Jing, H. (NIAID Clinical Genomics Program. National Institutes of Health) ;
Tung, W. (NIAID Clinical Genomics Program. National Institutes of Health) ;
Meguro, K. (NIAID Clinical Genomics Program. National Institutes of Health) ;
Shaw, E. (NIAID Clinical Genomics Program. National Institutes of Health) ;
Jing, Huie (NIAID Clinical Genomics Program. National Institutes of Health) ;
Tung, Wesley (NIAID Clinical Genomics Program. National Institutes of Health) ;
Shafer, S. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Zheng, L. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Zhang, Z. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Kubo, S. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Chauvin, S. D. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Meguro, K. (NIAID Clinical Genomics Program. National Institutes of Health) ;
Shaw, Elana (NIAID Clinical Genomics Program. National Institutes of Health) ;
Lenardo, M. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Luthers, Christopher R. (Department of Pharmacology & Molecular Therapeutics. Uniformed Services University of the Health Sciences) ;
Bauman, Bradly M. (Department of Pharmacology & Molecular Therapeutics. Uniformed Services University of the Health Sciences) ;
Shafer, Samantha (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Zheng, Lixin (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Zhang, Zinan (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Kubo, Satoshi (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Chauvin, Samuel D. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Lenardo, Michael (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Lack, Justin (NIAID Collaborative Bioinformatics Resource. Frederick National Laboratory for Cancer Research. Leidos Biomedical Research. Inc.) ;
Karlins, Eric (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ;
Hupalo, Daniel M. (American Genome Center. Uniformed Services University of the Health Sciences) ;
Rosenberger, John (American Genome Center. Uniformed Services University of the Health Sciences) ;
Sukumar, Gauthaman (American Genome Center. Uniformed Services University of the Health Sciences) ;
Wilkerson, Matthew D. (American Genome Center. Uniformed Services University of the Health Sciences) ;
Zhang, Xijun (American Genome Center. Uniformed Services University of the Health Sciences) ;
Universitat Autònoma de Barcelona
Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19). We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern Toll-like receptor 3 (TLR3)- and interferon regulatory factor 7 (IRF7)-dependent type I interferon (IFN) immunity to influenza virus in 659 patients with life-threatening COVID-19 pneumonia relative to 534 subjects with asymptomatic or benign infection. [...]
2020 - 10.1126/science.abd4570
Science, Vol. 370 Núm. 6515 (23 2020) , p. eabd4570
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6 p, 2.2 MB |
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy
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Rodríguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Schlüter, Agatha (Instituto de Salud Carlos III) ;
Verdura, Edgard (Instituto de Salud Carlos III) ;
Ruiz, Montserrat (Instituto de Salud Carlos III) ;
Martínez, Juan José (Instituto de Salud Carlos III) ;
Gourlaouen, Isabelle (Laboratory of Excellence GR-Ex) ;
Ka, Chandran (Hôpital Morvan. CHRU de Brest) ;
Lobato, Ricardo (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Casasnovas, Carlos (Hospital Universitari de Bellvitge) ;
Le Gac, Gérald (IBSAM. Université de Bretagne Occidentale. Université Bretagne Loire) ;
Fourcade, Stéphane (Instituto de Salud Carlos III) ;
Pujol, Aurora 1968- (Institució Catalana de Recerca i Estudis Avançats)
To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. We applied whole-exome sequencing (WES) to a vanishing white matter disease patient associated with premature ovarian failure at 26 years of age. [...]
2020 - 10.1002/acn3.51131
Annals of Clinical and Translational Neurology, Vol. 7, Num. 9 (august 2020) , p. 1574-1579
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9.
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10 p, 757.2 KB |
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
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Baldassarri, Margherita (University of Siena. Department of Medical Biotechnologies) ;
Picchiotti, Nicola (University of Pavia. Department of Mathematics) ;
Fava, Francesca (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ;
Fallerini, Chiara (University of Siena. Department of Medical Biotechnologies) ;
Benetti, Elisa (University of Siena. Department of Medical Biotechnologies) ;
Daga, Sergio (University of Siena. Department of Medical Biotechnologies) ;
Valentino, Floriana (University of Siena. Department of Medical Biotechnologies) ;
Doddato, Gabriella (University of Siena. Department of Medical Biotechnologies) ;
Furini, Simone (University of Siena. Department of Medical Biotechnologies) ;
Giliberti, Annarita (University of Siena. Department of Medical Biotechnologies) ;
Tita, Rossella (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ;
Amitrano, Sara (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ;
Bruttini, Mirella (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ;
Croci, Susanna (University of Siena. Department of Medical Biotechnologies) ;
Meloni, Ilaria (University of Siena. Department of Medical Biotechnologies) ;
Pinto, Anna Maria (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ;
Iuso, Nicola (University of Siena. Department of Medical Biotechnologies) ;
Gabbi, Chiara ;
Sciarra, Francesca (Sapienza University of Rome. Department of Experimental Medicine) ;
Venneri, Mary Anna (Sapienza University of Rome. Department of Experimental Medicine) ;
Gori, Marco (Université Côte d'Azur) ;
Sanarico, Maurizio ;
Crawley, Francis P. (Good Clinical Practice Alliance-Europe (GCPA) and Strategic Initiative for Developing Capacity in Ethical Review-Europe (SIDCER) (Leuven, Bèlgica)) ;
Pagotto, Uberto (University of Bologna. Department of Medical and Surgical Sciences) ;
Fanelli, Flaminia (University of Bologna. Department of Medical and Surgical Sciences) ;
Mezzullo, Marco (University of Bologna. Department of Medical and Surgical Sciences) ;
Domínguez-Garrido, Elena (Fundación Rioja Salud. Molecular Diagnostic Unit) ;
Planas-Serra, Laura (Spanish Covid HGE) ;
Schlüter, Agatha (Spanish Covid HGE) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Lapunzina, Pablo (Hospital Universitario La Paz (Madrid)) ;
Tenorio, Jair (Hospital Universitario La Paz (Madrid)) ;
Pujol, Aurora 1968- (Institució Catalana de Recerca i Estudis Avançats) ;
Castagna, Maria Grazia (University of Siena. Department of Medical, Surgical and Neurological Sciences) ;
Marcelli, Marco (Baylor College of Medicine (Houston, Estats Units d'Amèrica). Department of Medicine) ;
Isidori, Andrea M. (Sapienza University of Rome. Department of Experimental Medicine) ;
Renieri, Alessandra (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ;
Frullanti, Elisa (University of Siena. Department of Medical, Surgical and Neurological Sciences) ;
Mari, Francesca (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ;
Universitat Autònoma de Barcelona
While SARS-CoV-2 similarly infects men and women, COVID-19 outcome is less favorable in men. Variability in COVID-19 severity may be explained by differences in the host genome. We compared poly-amino acids variability from WES data in severely affected COVID-19 patients versus SARS-CoV-2 PCR-positive oligo-asymptomatic subjects. [...]
2021 - 10.1016/j.ebiom.2021.103246
EBioMedicine, Vol. 65 (february 2021) , p. 103246
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