Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
Belkadi, Aziz, Bolze, Alexandre, Itan, Yuval, Cobat, Aurélie, Vincent, Quentin B., Antipenko, Alexander, Shang, Lei, Boisson, Bertrand, Casanova, Jean-Laurent, Abel, Laurent
Published in Proceedings of the National Academy of Sciences - PNAS (28.04.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (28.04.2015)
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Journal Article
TNF and IL-1 exhibit distinct ubiquitin requirements for inducing NEMO-IKK supramolecular structures
Tarantino, Nadine, Tinevez, Jean-Yves, Crowell, Elizabeth Faris, Boisson, Bertrand, Henriques, Ricardo, Mhlanga, Musa, Agou, Fabrice, Israël, Alain, Laplantine, Emmanuel
Published in The Journal of cell biology (20.01.2014)
Published in The Journal of cell biology (20.01.2014)
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A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection
Casanova, Jean-Laurent, Su, Helen C., Abel, Laurent, Aiuti, Alessandro, Almuhsen, Saleh, Arias, Andres Augusto, Bastard, Paul, Biggs, Catherine, Bogunovic, Dusan, Boisson, Bertrand, Boisson-Dupuis, Stephanie, Bolze, Alexandre, Bondarenko, Anastasia, Bousfiha, Aziz, Brodin, Petter, Bustamante, Jacinta, Butte, Manish, Casari, Giorgio, Ciancanelli, Michael, Cobat, Aurelie, Condino-Neto, Antonio, Cooper, Megan, Dalgard, Clifton, Espinosa, Sara, Feldman, Hagit, Fellay, Jacques, Franco, Jose Luis, Hagin, David, Itan, Yuval, Jouanguy, Emmanuelle, Lucas, Carrie, Mansouri, Davood, Meyts, Isabelle, Milner, Joshua, Mogensen, Trine, Morio, Tomohiro, Ng, Lisa, Notarangelo, Luigi D., Okada, Satoshi, Ozcelik, Tayfun, Soler Palacín, Pere, Planas, Anna, Prando, Carolina, Puel, Anne, Pujol, Aurora, Redin, Claire, Renia, Laurent, Rodriguez Gallego, Jose Carlos, Quintana-Murci, Lluis, Sancho-Shimizu, Vanessa, Sankaran, Vijay, Seppänen, Mikko R.J., Shahrooei, Mohammad, Snow, Andrew, Spaan, András, Tangye, Stuart, Tur, Jordi Perez, Turvey, Stuart, Vinh, Donald C., von Bernuth, Horst, Wang, Xiaochuan, Zawadzki, Pawel, Zhang, Qian, Zhang, Shenying
Published in Cell (11.06.2020)
Published in Cell (11.06.2020)
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The mutation significance cutoff: gene-level thresholds for variant predictions
Itan, Yuval, Shang, Lei, Boisson, Bertrand, Ciancanelli, Michael J, Markle, Janet G, Martinez-Barricarte, Ruben, Scott, Eric, Shah, Ishaan, Stenson, Peter D, Gleeson, Joseph, Cooper, David N, Quintana-Murci, Lluis, Zhang, Shen-Ying, Abel, Laurent, Casanova, Jean-Laurent
Published in Nature methods (01.02.2016)
Published in Nature methods (01.02.2016)
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Journal Article
Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency
Ciancanelli, Michael J., Huang, Sarah X. L., Luthra, Priya, Garner, Hannah, Itan, Yuval, Volpi, Stefano, Lafaille, Fabien G., Trouillet, Céline, Schmolke, Mirco, Albrecht, Randy A., Israelsson, Elisabeth, Lim, Hye Kyung, Casadio, Melina, Hermesh, Tamar, Lorenzo, Lazaro, Leung, Lawrence W., Pedergnana, Vincent, Boisson, Bertrand, Okada, Satoshi, Picard, Capucine, Ringuier, Benedicte, Troussier, Françoise, Chaussabel, Damien, Abel, Laurent, Pellier, Isabelle, Notarangelo, Luigi D., García-Sastre, Adolfo, Basler, Christopher F., Geissmann, Frédéric, Zhang, Shen-Ying, Snoeck, Hans-Willem, Casanova, Jean-Laurent
Published in Science (American Association for the Advancement of Science) (24.04.2015)
Published in Science (American Association for the Advancement of Science) (24.04.2015)
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Journal Article
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child
Ogishi, Masato, Yang, Rui, Aytekin, Caner, Langlais, David, Bourgey, Mathieu, Khan, Taushif, Ali, Fatima Al, Rahman, Mahbuba, Delmonte, Ottavia M., Chrabieh, Maya, Zhang, Peng, Gruber, Conor, Pelham, Simon J., Spaan, András N., Rosain, Jérémie, Lei, Wei-Te, Drutman, Scott, Hellmann, Matthew D., Callahan, Margaret K., Adamow, Matthew, Wong, Phillip, Wolchok, Jedd D., Rao, Geetha, Ma, Cindy S., Nakajima, Yuka, Yaguchi, Tomonori, Chamoto, Kenji, Williams, Samuel C., Emile, Jean-Francois, Rozenberg, Flore, Glickman, Michael S., Rapaport, Franck, Kerner, Gaspard, Allington, Garrett, Tezcan, Ilhan, Cagdas, Deniz, Hosnut, Ferda O., Dogu, Figen, Ikinciogullari, Aydan, Rao, V. Koneti, Kainulainen, Leena, Béziat, Vivien, Bustamante, Jacinta, Vilarinho, Silvia, Lifton, Richard P., Boisson, Bertrand, Abel, Laurent, Bogunovic, Dusan, Marr, Nico, Notarangelo, Luigi D., Tangye, Stuart G., Honjo, Tasuku, Gros, Philippe, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent
Published in Nature medicine (01.09.2021)
Published in Nature medicine (01.09.2021)
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Journal Article
Exome and genome sequencing for inborn errors of immunity
Meyts, Isabelle, MD, PhD, Bosch, Barbara, MD, Bolze, Alexandre, PhD, Boisson, Bertrand, PhD, Itan, Yuval, PhD, Belkadi, Aziz, PhD, Pedergnana, Vincent, PhD, Moens, Leen, PhD, Picard, Capucine, MD, PhD, Cobat, Aurélie, MD, PhD, Bossuyt, Xavier, MD, PhD, Abel, Laurent, MD, PhD, Casanova, Jean-Laurent, MD, PhD
Published in Journal of allergy and clinical immunology (01.10.2016)
Published in Journal of allergy and clinical immunology (01.10.2016)
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Journal Article
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
Béziat, Vivien, Tavernier, Simon J, Chen, Yin-Huai, Ma, Cindy S, Materna, Marie, Laurence, Arian, Staal, Jens, Aschenbrenner, Dominik, Roels, Lisa, Worley, Lisa, Claes, Kathleen, Gartner, Lisa, Kohn, Lisa A, De Bruyne, Marieke, Schmitz-Abe, Klaus, Charbonnier, Louis-Marie, Keles, Sevgi, Nammour, Justine, Vladikine, Natasha, Maglorius Renkilaraj, Majistor Raj Luxman, Seeleuthner, Yoann, Migaud, Mélanie, Rosain, Jérémie, Jeljeli, Mohamed, Boisson, Bertrand, Van Braeckel, Eva, Rosenfeld, Jill A, Dai, Hongzheng, Burrage, Lindsay C, Murdock, David R, Lambrecht, Bart N, Avettand-Fenoel, Véronique, Vogel, Tiphanie P, Esther, Charles R, Haskologlu, Sule, Dogu, Figen, Ciznar, Peter, Boutboul, David, Ouachée-Chardin, Marie, Amourette, Jean, Lebras, Marie-Noëlle, Gauvain, Clément, Tcherakian, Colas, Ikinciogullari, Aydan, Beyaert, Rudi, Abel, Laurent, Milner, Joshua D, Grimbacher, Bodo, Couderc, Louis-Jean, Butte, Manish J, Freeman, Alexandra F, Catherinot, Émilie, Fieschi, Claire, Chatila, Talal A, Tangye, Stuart G, Uhlig, Holm H, Haerynck, Filomeen, Casanova, Jean-Laurent, Puel, Anne
Published in The Journal of experimental medicine (01.06.2020)
Published in The Journal of experimental medicine (01.06.2020)
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Journal Article
Genetics and clinical phenotypes in common variable immunodeficiency
Cunningham-Rundles, Charlotte, Casanova, Jean-Laurent, Boisson, Bertrand
Published in Frontiers in genetics (11.01.2024)
Published in Frontiers in genetics (11.01.2024)
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Journal Article
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
Kreins, Alexandra Y, Ciancanelli, Michael J, Okada, Satoshi, Kong, Xiao-Fei, Ramírez-Alejo, Noé, Kilic, Sara Sebnem, El Baghdadi, Jamila, Nonoyama, Shigeaki, Mahdaviani, Seyed Alireza, Ailal, Fatima, Bousfiha, Aziz, Mansouri, Davood, Nievas, Elma, Ma, Cindy S, Rao, Geetha, Bernasconi, Andrea, Sun Kuehn, Hye, Niemela, Julie, Stoddard, Jennifer, Deveau, Paul, Cobat, Aurelie, El Azbaoui, Safa, Sabri, Ayoub, Lim, Che Kang, Sundin, Mikael, Avery, Danielle T, Halwani, Rabih, Grant, Audrey V, Boisson, Bertrand, Bogunovic, Dusan, Itan, Yuval, Moncada-Velez, Marcela, Martinez-Barricarte, Ruben, Migaud, Melanie, Deswarte, Caroline, Alsina, Laia, Kotlarz, Daniel, Klein, Christoph, Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Cormier-Daire, Valerie, Rose-John, Stefan, Picard, Capucine, Hammarstrom, Lennart, Puel, Anne, Al-Muhsen, Saleh, Abel, Laurent, Chaussabel, Damien, Rosenzweig, Sergio D, Minegishi, Yoshiyuki, Tangye, Stuart G, Bustamante, Jacinta, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie
Published in The Journal of experimental medicine (21.09.2015)
Published in The Journal of experimental medicine (21.09.2015)
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Journal Article
Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia
Boisson, Bertrand, Laplantine, Emmanuel, Dobbs, Kerry, Cobat, Aurélie, Tarantino, Nadine, Hazen, Melissa, Lidov, Hart G W, Hopkins, Gregory, Du, Likun, Belkadi, Aziz, Chrabieh, Maya, Itan, Yuval, Picard, Capucine, Fournet, Jean-Christophe, Eibel, Hermann, Tsitsikov, Erdyni, Pai, Sung-Yun, Abel, Laurent, Al-Herz, Waleed, Casanova, Jean-Laurent, Israel, Alain, Notarangelo, Luigi D
Published in The Journal of experimental medicine (01.06.2015)
Published in The Journal of experimental medicine (01.06.2015)
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Journal Article
The human gene damage index as a gene-level approach to prioritizing exome variants
Itan, Yuval, Shang, Lei, Boisson, Bertrand, Patin, Etienne, Bolze, Alexandre, Moncada-Vélez, Marcela, Scott, Eric, Ciancanelli, Michael J., Lafaille, Fabien G., Markle, Janet G., Martinez-Barricarte, Ruben, de Jong, Sarah Jill, Kong, Xiao-Fei, Nitschke, Patrick, Belkadi, Aziz, Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Stenson, Peter D., Gleeson, Joseph G., Cooper, David N., Quintana-Murci, Lluis, Claverie, Jean-Michel, Zhang, Shen-Ying, Abel, Laurent, Casanova, Jean-Laurent
Published in Proceedings of the National Academy of Sciences - PNAS (03.11.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (03.11.2015)
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Journal Article
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
Published in Bioinformatics (15.12.2018)
Published in Bioinformatics (15.12.2018)
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Journal Article
A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS
Yamashita, Motoi, Kuehn, Hye Sun, Okuyama, Kazuki, Okada, Satoshi, Inoue, Yuzaburo, Mitsuiki, Noriko, Imai, Kohsuke, Takagi, Masatoshi, Kanegane, Hirokazu, Takeuchi, Masahiro, Shimojo, Naoki, Tsumura, Miyuki, Padhi, Aditya K., Zhang, Kam Y. J., Boisson, Bertrand, Casanova, Jean-Laurent, Ohara, Osamu, Rosenzweig, Sergio D., Taniuchi, Ichiro, Morio, Tomohiro
Published in Nature immunology (01.07.2021)
Published in Nature immunology (01.07.2021)
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Journal Article
Inherited IL-18BP deficiency in human fulminant viral hepatitis
Belkaya, Serkan, Michailidis, Eleftherios, Korol, Cecilia B, Kabbani, Mohammad, Cobat, Aurélie, Bastard, Paul, Lee, Yoon Seung, Hernandez, Nicholas, Drutman, Scott, de Jong, Ype P, Vivier, Eric, Bruneau, Julie, Béziat, Vivien, Boisson, Bertrand, Lorenzo-Diaz, Lazaro, Boucherit, Soraya, Sebagh, Mylène, Jacquemin, Emmanuel, Emile, Jean-François, Abel, Laurent, Rice, Charles M, Jouanguy, Emmanuelle, Casanova, Jean-Laurent
Published in The Journal of experimental medicine (05.08.2019)
Published in The Journal of experimental medicine (05.08.2019)
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Journal Article
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance
Rapaport, Franck, Boisson, Bertrand, Gregor, Anne, Béziat, Vivien, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Jouanguy, Emmanuelle, Puel, Anne, Rosain, Jérémie, Zhang, Qian, Zhang, Shen-Ying, Gleeson, Joseph G., Quintana-Murci, Lluis, Casanova, Jean-Laurent, Abel, Laurent, Patin, Etienne
Published in Proceedings of the National Academy of Sciences - PNAS (19.01.2021)
Published in Proceedings of the National Academy of Sciences - PNAS (19.01.2021)
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Journal Article
An essential role for the Zn2+ transporter ZIP7 in B cell development
Anzilotti, Consuelo, Swan, David J., Boisson, Bertrand, Deobagkar-Lele, Mukta, Oliveira, Catarina, Chabosseau, Pauline, Engelhardt, Karin R., Xu, Xijin, Chen, Rui, Alvarez, Luis, Berlinguer-Palmini, Rolando, Bull, Katherine R., Cawthorne, Eleanor, Cribbs, Adam P., Crockford, Tanya L., Dang, Tarana Singh, Fearn, Amy, Fenech, Emma J., de Jong, Sarah J., Lagerholm, B. Christoffer, Ma, Cindy S., Sims, David, van den Berg, Bert, Xu, Yaobo, Cant, Andrew J., Kleiner, Gary, Leahy, T. Ronan, de la Morena, M. Teresa, Puck, Jennifer M., Shapiro, Ralph S., van der Burg, Mirjam, Chapman, J. Ross, Christianson, John C., Davies, Benjamin, McGrath, John A., Przyborski, Stefan, Santibanez Koref, Mauro, Tangye, Stuart G., Werner, Andreas, Rutter, Guy A., Padilla-Parra, Sergi, Casanova, Jean-Laurent, Cornall, Richard J., Conley, Mary Ellen, Hambleton, Sophie
Published in Nature immunology (01.03.2019)
Published in Nature immunology (01.03.2019)
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