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Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

Bolze, Alexandre ; Mahlaoui, Nizar ; Byun, Minji ; Turner, Bridget ; Trede, Nikolaus ; Ellis, Steven R ; Abhyankar, Avinash ; Itan, Yuval ; Patin, Etienne ; Brebner, Samuel ; Sackstein, Paul ; Puel, Anne ; Picard, Capucine ; Abel, Laurent ; Quintana-Murci, Lluis ; Faust, Saul N ; Williams, Anthony P ; Baretto, Richard ; Duddridge, Michael ; Kini, Usha ; Pollard, Andrew J ; Gaud, Catherine ; Frange, Pierre ; Orbach, Daniel ; Emile, Jean-Francois ; Stephan, Jean-Louis ; Sorensen, Ricardo ; Plebani, Alessandro ; Hammarstrom, Lennart ; Conley, Mary Ellen ; Selleri, Licia ; Casanova, Jean-Laurent Bolze, Alexandre (correspondence author) ; Bolze, Alexandre (record owner)

Science (New York, N.Y.), May 24, 2013, Vol.340(6135), pp.976-978 [Peer Reviewed Journal]

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Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

Mina, Erika ; Borghesi, Alessandro ; Zhou, Hao ; Bougarn, Salim ; Boughorbel, Sabri ; Israel, Laura ; Meloni, Ilaria ; Chrabieh, Maya ; Ling, Yun ; Itan, Yuval ; Renieri, Alessandra ; Mazzucchelli, Iolanda ; Basso, Sabrina ; Pavone, Piero ; Falsaperla, Raffaele ; Ciccone, Roberto ; Cerbo, Rosa ; Stronati, Mauro ; Picard, Capucine ; Zuffardi, Orsetta ; Abel, Laurent ; Chaussabel, Damien ; Marr, Nico ; Li, Xiaoxia ; Casanova, Jean-Laurent ; Puel, Anne Mina, Erika (correspondence author)

Proceedings of the National Academy of Sciences, USA, January 2017, Vol.114(4), p.E514 [Peer Reviewed Journal]

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Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

Belkadi, Aziz ; Bolze, Alexandre ; Itan, Yuval ; Cobat, Aurélie ; Vincent, Quentin ; Antipenko, Alexander ; Shang, Lei ; Boisson, Bertrand ; Casanova, Jean-Laurent ; Abel, Laurent

Proceedings of the National Academy of Sciences of the United States of America, Apr 28, 2015, p.5473 [Peer Reviewed Journal]

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The human gene damage index as a gene-level approach to prioritizing exome variants.(GENETICS)(Report)

Itan, Yuval ; Shang, Lei ; Boisson, Bertrand ; Patin, Etienne ; Bolze, Alexandre ; Moncada-Velez, 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, Stephanie ; Stenson, Peter D. ; Gleeson, Joseph G. ; Cooper, David N. ; Quintana-Murci, Lluis ; Claverie, Jean-Michel ; Zhang, Shen-Ying ; Abel, Laurent ; Casanova, Jean-Laurent

Proceedings of the National Academy of Sciences of the United States, Nov 3, 2015, Vol.112(44), p.13615 [Peer Reviewed Journal]

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Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.

Puel, Anne ; Cypowyj, Sophie ; Bustamante, Jacinta ; Wright, Jill F ; Liu, Luyan ; Lim, Hye Kyung ; Migaud, Mélanie ; Israel, Laura ; Chrabieh, Maya ; Audry, Magali ; Gumbleton, Matthew ; Toulon, Antoine ; Bodemer, Christine ; El-Baghdadi, Jamila ; Whitters, Matthew ; Paradis, Theresa ; Brooks, Jonathan ; Collins, Mary ; Wolfman, Neil M ; Al-Muhsen, Saleh ; Galicchio, Miguel ; Abel, Laurent ; Picard, Capucine ; Casanova, Jean-Laurent Puel, Anne (correspondence author) ; Puel, Anne (record owner)

Science (New York, N.Y.), April 1, 2011, Vol.332(6025), pp.65-68 [Peer Reviewed Journal]

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Human intracellular ISG15 prevents interferon-[alpha]/[Beta] over-amplification and auto-inflammation

Zhang, Xianqin ; Bogunovic, Dusan ; Payelle-Brogard, Béatrice ; Francois-Newton, Véronique ; Speer, Scott ; Yuan, Chao ; Volpi, Stefano ; Li, Zhi ; Sanal, Ozden ; Mansouri, Davood ; Tezcan, Ilhan ; Rice, Gillian ; Chen, Chunyuan ; Mansouri, Nahal ; Mahdaviani, Seyed ; Itan, Yuval ; Boisson, Bertrand ; Okada, Satoshi ; Zeng, Lu ; Wang, Xing ; Jiang, Hui ; Liu, Wenqiang ; Han, Tiantian ; Liu, Delin ; Ma, Tao ; Wang, Bo ; Liu, Mugen ; Liu, Jing-Yu ; Wang, Qing ; Yalnizoglu, Dilek ; Radoshevich, Lilliana ; Uzé, Gilles ; Gros, Philippe ; Rozenberg, Flore ; Zhang, Shen-Ying ; Jouanguy, Emmanuelle ; Bustamante, Jacinta ; García-Sastre, Adolfo ; Abel, Laurent ; Lebon, Pierre ; Notarangelo, Luigi ; Crow, Yanick ; Boisson-Dupuis, Stéphanie ; Casanova, Jean-Laurent ; Pellegrini, Sandra

Nature, Jan 1, 2015, pp.89-93J [Peer Reviewed Journal]

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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 Belkadi, Aziz (correspondence author) ; Belkadi, Aziz (record owner)

Proceedings of the National Academy of Sciences of the United States of America, April 28, 2015, Vol.112(17), pp.5473-5478 [Peer Reviewed Journal]

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Mycobacterial Disease and Impaired IFN- gamma Immunity in Humans with Inherited ISG15 Deficiency

Bogunovic, Dusan ; Byun, Minji ; Durfee, Larissa ; Abhyankar, Avinash ; Sanal, Ozden ; Mansouri, Davood ; Salem, Sandra ; Radovanovic, Irena ; Grant, Audrey ; Adimi, Parisa ; Mansouri, Nahal ; Okada, Satoshi ; Bryant, Vanessa ; Kong, Xiao-Fei ; Kreins, Alexandra ; Velez, Marcela ; Boisson, Bertrand ; Khalilzadeh, Soheila ; Ozcelik, Ugur ; Darazam, Ilad ; Schoggins, John ; Rice, Charles ; Al-Muhsen, Saleh ; Behr, Marcel ; Vogt, Guillaume ; Puel, Anne ; Bustamante, Jacinta ; Gros, Philippe ; Huibregtse, Jon ; Abel, Laurent ; Boisson-Dupuis, Stephanie ; Casanova, Jean-Laurent Bogunovic, Dusan (correspondence author)

Science, Sep 28, 2012, Vol.337(6102), pp.1684-1688 [Peer Reviewed Journal]

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Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Bolze, Alexandre ; Boisson, Bertrand ; Bosch, Barbara ; Antipenko, Alexander ; Bouaziz, Matthieu ; Sackstein, Paul ; Chaker-Margot, Malik ; Barlogis, Vincent ; Briggs, Tracy ; Colino, Elena ; Elmore, Aurora C ; Fischer, Alain ; Genel, Ferah ; Hewlett, Angela ; Jedidi, Maher ; Kelecic, Jadranka ; Krüger, Renate ; Ku, Cheng-Lung ; Kumararatne, Dinakantha ; Lefevre-Utile, Alain ; Loughlin, Sam ; Mahlaoui, Nizar ; Markus, Susanne ; Garcia, Juan-Miguel ; Nizon, Mathilde ; Oleastro, Matias ; Pac, Malgorzata ; Picard, Capucine ; Pollard, Andrew J ; Rodriguez-Gallego, Carlos ; Thomas, Caroline ; Von Bernuth, Horst ; Worth, Austen ; Meyts, Isabelle ; Risolino, Maurizio ; Selleri, Licia ; Puel, Anne ; Klinge, Sebastian ; Abel, Laurent ; Casanova, Jean-Laurent Bolze, Alexandre (correspondence author) ; Bolze, Alexandre (record owner)

Proceedings of the National Academy of Sciences of the United States of America, August 21, 2018, Vol.115(34), pp.E8007-E8016 [Peer Reviewed Journal]

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PIncomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.(PNAS Plus Significance Statements)(Report)(Author abstract)

Bolze, Alexandre ; Boisson, Bertrand ; Bosch, Barbara ; Antipenko, Alexander ; Bouaziz, Matthieu ; Sackstein, Paul ; Chaker-Margot, Malik ; Barlogis, Vincent ; Briggs, Tracy ; Colino, Elena ; Elmore, Aurora C. ; Fischer, Alain ; Genel, Ferah ; Hewlett, Angela ; Jedidi, Maher ; Kelecic, Jadranka ; Kruger, Renate ; Kumararatne, Dinakantha ; Lefevre-Utile, Alain ; Loughlin, Sam ; Mahlaoui, Nizar ; Markus, Susanne ; Garcia, Juan-Miguel ; Nizon, Mathilde ; Oleastro, Matias ; Pac, Malgorzata ; Picard, Capucine ; Pollard, Andrew J. ; Rodriguez-Gallego, Carlos ; Thomas, Caroline ; Bernuth, Horst Von ; Worth, Austen ; Meyts, Isabelle ; Risolino, Maurizio ; Selleri, Licia ; Puel, Anne ; Klinge, Sebastian ; Abel, Laurent ; Casanova, Jean-Laurent

Proceedings of the National Academy of Sciences of the United States, August 21, 2018, Vol.115(34), p.8480(1) [Peer Reviewed Journal]

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