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Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs
Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs
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Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs

Casanova, Jean-Laurent ; Anderson, Mark S

The Journal of clinical investigation, 2023-02, Vol.133 (3), p.1-11 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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Chronic mucocutaneous candidiasis disease associated with inborn errors of IL‐17 immunity
Chronic mucocutaneous candidiasis disease associated with inborn errors of IL‐17 immunity
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Chronic mucocutaneous candidiasis disease associated with inborn errors of IL‐17 immunity

Okada, Satoshi ; Puel, Anne ; Casanova, Jean‐Laurent ; Kobayashi, Masao

Clinical & translational immunology, 2016-12, Vol.5 (12), p.e114-n/a [Periódico revisado por pares]

Australia: Nature Publishing Group

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3
Antibodies against type I interferon: detection and association with severe clinical outcome in COVID‐19 patients
Antibodies against type I interferon: detection and association with severe clinical outcome in COVID‐19 patients
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Antibodies against type I interferon: detection and association with severe clinical outcome in COVID‐19 patients

Goncalves, David ; Mezidi, Mehdi ; Bastard, Paul ; Perret, Magali ; Saker, Kahina ; Fabien, Nicole ; Pescarmona, Rémi ; Lombard, Christine ; Walzer, Thierry ; Casanova, Jean‐Laurent ; Belot, Alexandre ; Richard, Jean‐Christophe ; Trouillet‐Assant, Sophie

Clinical & Translational Immunology, 2021, Vol.10 (8), p.e1327-n/a [Periódico revisado por pares]

Australia: John Wiley & Sons, Inc

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The intersection of COVID-19 and autoimmunity
The intersection of COVID-19 and autoimmunity
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The intersection of COVID-19 and autoimmunity

Knight, 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 J

The Journal of clinical investigation, 2021-12, Vol.131 (24), p.1-9 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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5
Human genetics of infectious diseases: between proof of principle and paradigm
Human genetics of infectious diseases: between proof of principle and paradigm
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Human genetics of infectious diseases: between proof of principle and paradigm

Alcaïs, Alexandre ; Abel, Laurent ; Casanova, Jean-Laurent

The Journal of clinical investigation, 2009-09, Vol.119 (9), p.2506-2514 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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6
Controlling for human population stratification in rare variant association studies
Controlling for human population stratification in rare variant association studies
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Controlling for human population stratification in rare variant association studies

Bouaziz, Matthieu ; Mullaert, Jimmy ; Bigio, Benedetta ; Seeleuthner, Yoann ; Casanova, Jean-Laurent ; Alcais, Alexandre ; Abel, Laurent ; Cobat, Aurélie

Scientific reports, 2021-09, Vol.11 (1), p.19015-19015, Article 19015 [Periódico revisado por pares]

England: Nature Publishing Group

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7
PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations
PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations
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PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

Zhang, Peng ; Bigio, Benedetta ; Rapaport, Franck ; Zhang, Shen-Ying ; Casanova, Jean-Laurent ; Abel, Laurent ; Boisson, Bertrand ; Itan, Yuval Stegle, Oliver

Bioinformatics, 2018-12, Vol.34 (24), p.4307-4309 [Periódico revisado por pares]

England: Oxford University Press

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8
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing
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A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing

Nabavizadeh, 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, Bruno

EMBO molecular medicine, 2023-02, Vol.15 (2), p.e16478-n/a [Periódico revisado por pares]

England: John Wiley & Sons, Inc

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9
Genetics and clinical phenotypes in common variable immunodeficiency
Genetics and clinical phenotypes in common variable immunodeficiency
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Genetics and clinical phenotypes in common variable immunodeficiency

Cunningham-Rundles, Charlotte ; Casanova, Jean-Laurent ; Boisson, Bertrand

Frontiers in genetics, 2024-01, Vol.14, p.1272912-1272912 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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10
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency
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Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

Al-Herz, Waleed ; Bousfiha, Aziz ; Casanova, Jean-Laurent ; Chatila, Talal ; Conley, Mary Ellen ; Cunningham-Rundles, Charlotte ; Etzioni, Amos ; Franco, Jose Luis ; Gaspar, H Bobby ; Holland, Steven M ; Klein, Christoph ; Nonoyama, Shigeaki ; Ochs, Hans D ; Oksenhendler, Erik ; Picard, Capucine ; Puck, Jennifer M ; Sullivan, Kate ; Tang, Mimi L K

Frontiers in immunology, 2014-04, Vol.5, p.162-162 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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