Search Results - Belkadi, Aziz

Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits by Thareja, Gaurav, Al-Sarraj, Yasser, Belkadi, Aziz, Almotawa, Maryam, Suhre, Karsten, Albagha, Omar M. E.

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Identification of genetic variants controlling RNA editing and their effect on RNA structure stabilization by Belkadi, Aziz, Thareja, Gaurav, Halama, Anna, Mahmoud, Yasmin, Jones, Danielle, Agnew, Sam, Malek, Joel, Suhre, Karsten

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Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants by Belkadi, Aziz, Bolze, Alexandre, Itan, Yuval, Cobat, Aurélie, Vincent, Quentin B., Antipenko, Alexander, Shang, Lei, Boisson, Bertrand, Casanova, Jean-Laurent, Abel, Laurent

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Ratios of Acetaminophen Metabolites Identify New Loci of Pharmacogenetic Relevance in a Genome-Wide Association Study by Thareja, Gaurav, Evans, Anne M., Wood, Spencer D., Stephan, Nisha, Zaghlool, Shaza, Halama, Anna, Kastenmüller, Gabi, Belkadi, Aziz, Albagha, Omar M. E., Suhre, Karsten

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A biallelic ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis by Boisson, Bertrand, Wang, Chenhui, Pedergnana, Vincent, Wu, Ling, Cypowyj, Sophie, Rybojad, Michel, Belkadi, Aziz, Picard, Capucine, Abel, Laurent, Fieschi, Claire, Puel, Anne, Li, Xiaoxia, Casanova, Jean-Laurent

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Exome and genome sequencing for inborn errors of immunity by Meyts, Isabelle, Bosch, Barbara, Bolze, Alexandre, Boisson, Bertrand, Itan, Yuval, Belkadi, Aziz, Pedergnana, Vincent, Moens, Leen, Picard, Capucine, Cobat, Aurélie, Bossuyt, Xavier, Abel, Laurent, Casanova, Jean-Laurent

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Single Nucleotide Variant Counts Computed from RNA Sequencing and Cellular Traffic into Human Kidney Allografts by Thareja, Gaurav, Yang, Hua, Hayat, Shahina, Mueller, Franco B., Lee, John R., Lubetzky, Michelle, Dadhania, Darshana M., Belkadi, Aziz, Seshan, Surya V., Suhre, Karsten, Suthanthiran, Manikkam, Muthukumar, Thangamani

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Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage by Belkadi, Aziz, Pedergnana, Vincent, Cobat, Aurélie, Itan, Yuval, Vincent, Quentin B., Abhyankar, Avinash, Shang, Lei, El Baghdadi, Jamila, Bousfiha, Aziz, Alcais, Alexandre, Boisson, Bertrand, Casanova, Jean-Laurent, Abel, Laurent

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Deep sequencing of DNA from urine of kidney allograft recipients to estimate donor/recipient-specific DNA fractions by Belkadi, Aziz, Thareja, Gaurav, Dadhania, Darshana, Lee, John R., Muthukumar, Thangamani, Snopkowski, Catherine, Li, Carol, Halama, Anna, Abdelkader, Sara, Abdulla, Silvana, Mahmoud, Yasmin, Malek, Joel, Suthanthiran, Manikkam, Suhre, Karsten

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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery by Scott, Eric M., Halees, Anason, Itan, Yuval, Spencer, Emily G., He, Yupeng, Azab, Mostafa Abdellateef, Gabriel, Stacey B., Belkadi, Aziz, Boisson, Bertrand, Abel, Laurent, Clark, Andrew G., Alkuraya, Fowzan S., Casanova, Jean-Laurent, Gleeson, Joseph G.

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Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis by Ling, Yun, Cypowyj, Sophie, Aytekin, Caner, Galicchio, Miguel, Camcioglu, Yildiz, Nepesov, Serdar, Ikinciogullari, Aydan, Dogu, Figen, Belkadi, Aziz, Levy, Romain, Migaud, Mélanie, Boisson, Bertrand, Bolze, Alexandre, Itan, Yuval, Goudin, Nicolas, Cottineau, Julien, Picard, Capucine, Abel, Laurent, Bustamante, Jacinta, Casanova, Jean-Laurent, Puel, Anne

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Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer by Vincent, Quentin B., Belkadi, Aziz, Fayard, Cindy, Marion, Estelle, Adeye, Ambroise, Ardant, Marie-Françoise, Johnson, Christian R., Agossadou, Didier, Lorenzo, Lazaro, Guergnon, Julien, Bole-Feysot, Christine, Manry, Jeremy, Nitschké, Patrick, Theodorou, Ioannis, Casanova, Jean-Laurent, Marsollier, Laurent, Chauty, Annick, Abel, Laurent, Alcaïs, Alexandre

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Detection of infiltrating fibroblasts by single-cell transcriptomics in human kidney allografts by Suryawanshi, Hemant, Yang, Hua, Lubetzky, Michelle, Morozov, Pavel, Lagman, Mila, Thareja, Gaurav, Alonso, Alicia, Li, Carol, Snopkowski, Catherine, Belkadi, Aziz, Mueller, Franco B., Lee, John R., Dadhania, Darshana M., Salvatore, Steven P., Seshan, Surya V., Sharma, Vijay K., Suhre, Karsten, Suthanthiran, Manikkam, Tuschl, Thomas, Muthukumar, Thangamani

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Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency by Martínez-Barricarte, Rubén, Megged, Orli, Stepensky, Polina, Casimir, Pierre, Moncada-Velez, Marcela, Averbuch, Diana, Assous, Marc Victor, Abuzaitoun, Omar, Kong, Xiao-Fei, Pedergnana, Vincent, Deswarte, Caroline, Migaud, Mélanie, Rose-John, Stefan, Itan, Yuval, Boisson, Bertrand, Belkadi, Aziz, Conti, Francesca, Abel, Laurent, Vogt, Guillaume, Boisson-Dupuis, Stephanie, Casanova, Jean-Laurent, Bustamante, Jacinta

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Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia by 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.

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A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance by Khourieh, Joëlle, Rao, Geetha, Habib, Tanwir, Avery, Danielle T., Lefèvre-Utile, Alain, Chandesris, Marie-Olivia, Belkadi, Aziz, Chrabieh, Maya, Alwaseem, Hanan, Grandin, Virginie, Sarrot-Reynauld, Françoise, Sénéchal, Agathe, Lortholary, Olivier, Kong, Xiao-Fei, Boisson-Dupuis, Stéphanie, Picard, Capucine, Puel, Anne, Béziat, Vivien, Zhang, Qian, Abel, Laurent, Molina, Henrik, Marr, Nico, Tangye, Stuart G., Casanova, Jean-Laurent, Boisson, Bertrand

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Recurrent rhinovirus infections in a child with inherited MDA5 deficiency by Lamborn, Ian T., Jing, Huie, Zhang, Yu, Drutman, Scott B., Abbott, Jordan K., Munir, Shirin, Bade, Sangeeta, Murdock, Heardley M., Santos, Celia P., Brock, Linda G., Masutani, Evan, Fordjour, Emmanuel Y., McElwee, Joshua J., Hughes, Jason D., Nichols, Dave P., Belkadi, Aziz, Oler, Andrew J., Happel, Corinne S., Matthews, Helen F., Abel, Laurent, Collins, Peter L., Subbarao, Kanta, Gelfand, Erwin W., Ciancanelli, Michael J., Casanova, Jean-Laurent, Su, Helen C.

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Human adaptive immunity rescues an inborn error of innate immunity by Israel, Laura, Wang, Ying, Bulek, Katarzyna, Mina, Erika Della, Zhang, Zhao, Pedergnagna, Chrabieh, Vincent, Maya, Lemmens, Nicole A., Sancho-Shimizu, Vanessa, Descatoire, Marc, Lasseau, Théo, Israelsson, Elisabeth, Lorenzo, Lazaro, Yun, Ling, Belkadi, Aziz, Moran, Andrew, Weisman, Leonard E., Vandenesh, François, Batteux, Frederic, Weller, Sandra, Levin, Michael, Herberg, Jethro, Abhyankar, Avinash, Prando, Carolina, Itan, Yuval, van Wamel, Willem, Picard, Capucine, Abel, Laurent, Chaussabel, Damien, Li, Xiaoxia, Beutler, Bruce, Arkwright, Peter D., Casanova, Jean-Laurent, Puel, Anne

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Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations by Wang, Yi, Ma, Cindy S., Ling, Yun, Bousfiha, Aziz, Camcioglu, Yildiz, Jacquot, Serge, Payne, Kathryn, Crestani, Elena, Roncagalli, Romain, Belkadi, Aziz, Kerner, Gaspard, Lorenzo, Lazaro, Deswarte, Caroline, Chrabieh, Maya, Patin, Etienne, Vincent, Quentin B., Müller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Ailal, Fatima, Quintana-Murci, Lluis, Fraitag, Sylvie, Alyanakian, Marie-Alexandra, Leruez-Ville, Marianne, Picard, Capucine, Puel, Anne, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Malissen, Marie, Malissen, Bernard, Abel, Laurent, Hovnanian, Alain, Notarangelo, Luigi D., Jouanguy, Emmanuelle, Tangye, Stuart G., Béziat, Vivien, Casanova, Jean-Laurent

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Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency by Cottineau, Julien, Kottemann, Molly C., Lach, Francis P., Kang, Young-Hoon, Vély, Frédéric, Deenick, Elissa K., Lazarov, Tomi, Gineau, Laure, Wang, Yi, Farina, Andrea, Chansel, Marie, Lorenzo, Lazaro, Piperoglou, Christelle, Ma, Cindy S., Nitschke, Patrick, Belkadi, Aziz, Itan, Yuval, Boisson, Bertrand, Jabot-Hanin, Fabienne, Picard, Capucine, Bustamante, Jacinta, Eidenschenk, Céline, Boucherit, Soraya, Aladjidi, Nathalie, Lacombe, Didier, Barat, Pascal, Qasim, Waseem, Hurst, Jane A., Pollard, Andrew J., Uhlig, Holm H., Fieschi, Claire, Michon, Jean, Bermudez, Vladimir P., Abel, Laurent, de Villartay, Jean-Pierre, Geissmann, Frédéric, Tangye, Stuart G., Hurwitz, Jerard, Vivier, Eric, Casanova, Jean-Laurent, Smogorzewska, Agata, Jouanguy, Emmanuelle

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