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Material Type: Artigo
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Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNsCasanova, Jean-Laurent ; Anderson, Mark SThe Journal of clinical investigation, 2023-02, Vol.133 (3), p.1-11 [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |
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2 |
Material Type: Artigo
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The intersection of COVID-19 and autoimmunityKnight, Jason S ; Caricchio, Roberto ; Casanova, Jean-Laurent ; Combes, Alexis J ; Diamond, Betty ; Fox, Sharon E ; Hanauer, David A ; James, Judith A ; Kanthi, Yogendra ; Ladd, Virginia ; Mehta, Puja ; Ring, Aaron M ; Sanz, Ignacio ; Selmi, Carlo ; Tracy, Russell P ; Utz, Paul J ; Wagner, Catriona A ; Wang, Julia Y ; McCune, William JThe Journal of clinical investigation, 2021-12, Vol.131 (24), p.1-9 [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |
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3 |
Material Type: Artigo
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Human genetics of infectious diseases: a unified theoryCasanova, Jean-Laurent ; Abel, LaurentThe EMBO journal, 2007-02, Vol.26 (4), p.915-922 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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4 |
Material Type: Artigo
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Human genetics of infectious diseases: between proof of principle and paradigmAlcaïs, Alexandre ; Abel, Laurent ; Casanova, Jean-LaurentThe Journal of clinical investigation, 2009-09, Vol.119 (9), p.2506-2514 [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |
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5 |
Material Type: Artigo
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PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variationsZhang, Peng ; Bigio, Benedetta ; Rapaport, Franck ; Zhang, Shen-Ying ; Casanova, Jean-Laurent ; Abel, Laurent ; Boisson, Bertrand ; Itan, Yuval Stegle, OliverBioinformatics, 2018-12, Vol.34 (24), p.4307-4309 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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6 |
Material Type: Artigo
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A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencingNabavizadeh, Nasrinsadat ; Bressin, Annkatrin ; Shboul, Mohammad ; Moreno Traspas, Ricardo ; Chia, Poh Hui ; Bonnard, Carine ; Szenker‐Ravi, Emmanuelle ; Sarıbaş, Burak ; Beillard, Emmanuel ; Altunoglu, Umut ; Hojati, Zohreh ; Drutman, Scott ; Freier, Susanne ; El‐Khateeb, Mohammad ; Fathallah, Rajaa ; Casanova, Jean‐Laurent ; Soror, Wesam ; Arafat, Alaa ; Escande‐Beillard, Nathalie ; Mayer, Andreas ; Reversade, BrunoEMBO molecular medicine, 2023-02, Vol.15 (2), p.e16478-n/a [Periódico revisado por pares]England: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegiaLaunay, 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 ; Gutiérrez-Solana, Luis González ; Casasnovas, Carlos ; Area-Gomez, Estela ; Pujol, AuroraThe Journal of clinical investigation, 2023-07, Vol.133 (14) [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |
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8 |
Material Type: Artigo
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Notch, RORC and IL-23 signals cooperate to promote multi-lineage human innate lymphoid cell differentiationCroft, Carys A ; Thaller, Anna ; Marie, Solenne ; Doisne, Jean-Marc ; Surace, Laura ; Yang, Rui ; Puel, Anne ; Bustamante, Jacinta ; Casanova, Jean-Laurent ; Di Santo, James PNature communications, 2022-07, Vol.13 (1), p.4344-4344, Article 4344 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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9 |
Material Type: Artigo
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Blockade of interferon signaling decreases gut barrier integrity and promotes severe West Nile virus diseaseLin, Shih-Ching ; Zhao, Fang R ; Janova, Hana ; Gervais, Adrian ; Rucknagel, Summer ; Murray, Kristy O ; Casanova, Jean-Laurent ; Diamond, Michael SNature communications, 2023-09, Vol.14 (1), p.5973-5973, Article 5973 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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10 |
Material Type: Artigo
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Evolutionary dynamics of human Toll-like receptors and their different contributions to host defenseBarreiro, Luis B ; Ben-Ali, Meriem ; Quach, Hélène ; Laval, Guillaume ; Patin, Etienne ; Pickrell, Joseph K ; Bouchier, Christiane ; Tichit, Magali ; Neyrolles, Olivier ; Gicquel, Brigitte ; Kidd, Judith R ; Kidd, Kenneth K ; Alcaïs, Alexandre ; Ragimbeau, Josiane ; Pellegrini, Sandra ; Abel, Laurent ; Casanova, Jean-Laurent ; Quintana-Murci, Lluís McVean, GilPLoS genetics, 2009-07, Vol.5 (7), p.e1000562-e1000562 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |