Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene von Pastural, Elodie, Barrat, Franck J., Dufourcq-Lagelouse, Rémi, Certain, Stéphanie, Sanal, Ozden, Jabado, Nada, Seger, Reinhard, Griscelli, Claude, Fischer, Alain, Basile, Geneviève de Saint

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Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3) von Feldmann, Jérôme, Callebaut, Isabelle, Raposo, Graça, Certain, Stéphanie, Bacq, Delphine, Dumont, Cécile, Lambert, Nathalie, Ouachée-Chardin, Marie, Chedeville, Gaëlle, Tamary, Hannah, Minard-Colin, Véronique, Vilmer, Etienne, Blanche, Stéphane, Le Deist, Françoise, Fischer, Alain, de Saint Basile, Geneviève

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Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes von Feldmann, Jérôme, Prieur, Anne-Marie, Quartier, Pierre, Berquin, Patrick, Certain, Stéphanie, Cortis, Elisabetta, Teillac-Hamel, Dominique, Fischer, Alain, Basile, Geneviève de Saint

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Gene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 Disease von Cavazzana-Calvo, Marina, Hacein-Bey, Salima, Geneviève de Saint Basile, Gross, Fabian, Yvon, Eric, Nusbaum, Patrick, Selz, Françoise, Hue, Christophe, Certain, Stéphanie, Casanova, Jean-Laurent, Bousso, Philippe, Le Deist, Françoise, Fischer, Alain

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Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis von Stepp, Susan E., Dufourcq-Lagelouse, Rémi, Le Deist, Françoise, Bhawan, Sadhna, Certain, Stéphanie, Mathew, Porunelloor A., Henter, Jan-Inge, Bennett, Michael, Fischer, Alain, Geneviève de Saint Basile, Kumar, Vinay

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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome von Ménasché, Gaël, Pastural, Elodie, Feldmann, Jérôme, Certain, Stéphanie, Ersoy, Fügen, Dupuis, Sophie, Wulffraat, Nico, Bianchi, Diana, Fischer, Alain, Le Deist, Françoise, de Saint Basile, Geneviève

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Perforin gene defects in familiar hemophagocytic lymphohistiocytosis von Stepp, SE, Dufourcq-Lagelouse, R, Le, Deist F, Bhawan, S, Certain, S, Mathew, PA, Henter, JI, Bennett, M, Fischer, A, Saint, Basile GD

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Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis von Feldmann, Jérôme, Le Deist, Françoise, Ouachée‐Chardin, Marie, Certain, Stéphanie, Alexander, Sarah, Quartier, Pierre, Haddad, Elie, Wulffraat, Nico, Casanova, Jean Laurent, Blanche, Stéphane, Fischer, Alain, De Saint Basile, Geneviève

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Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome von Certain, Stéphanie, Barrat, Franck, Pastural, Elodie, Deist, Françoise Le, Goyo-Rivas, Jose, Jabado, Nada, Benkerrou, Malika, Seger, Reinhard, Vilmer, Etienne, Beullier, Gilles, Schwarz, Klaus, Fischer, Alain, Basile, Geneviève de Saint

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Perioperative hyperglycemia and risk of adverse events among patients with and without diabetes von Kotagal, Meera, Symons, Rebecca G, Hirsch, Irl B, Umpierrez, Guillermo E, Dellinger, E Patchen, Farrokhi, Ellen T, Flum, David R

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Combination of Mucosa-Exposure Device and Computer-Aided Detection for Adenoma Detection During Colonoscopy: A Randomized Trial von Spadaccini, Marco, Hassan, Cesare, Rondonotti, Emanuele, Antonelli, Giulio, Andrisani, Gianluca, Lollo, Gianluca, Auriemma, Francesco, Iacopini, Federico, Facciorusso, Antonio, Maselli, Roberta, Fugazza, Alessandro, Bambina Bergna, Irene Maria, Cereatti, Fabrizio, Mangiavillano, Benedetto, Radaelli, Franco, Di Matteo, Francesco, Gross, Seth A., Sharma, Prateek, Mori, Yuichi, Bretthauer, Michael, Rex, Douglas K., Repici, Alessandro, Amato, Arnaldo, Andrealli, Alida, Bevivino, Gerolamo, Carrara, Silvia, Capogreco, Antonio, Colombo, Matteo, De Gottardi, Andrea, De Marco, Alessandro, Di Fonzo, Michela, Di Paolo, Dhanai, Galtieri, Piera Alessia, Lamonaca, Laura, Lenoci, Nicoletta, Paduano, Danilo, Paggi, Silvia, Pellegatta, Gaia, Scardino, Giulia, Schilirò, Alessandro

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China rheumatoid arthritis registry of patients with Chinese medicine (CERTAIN): Rationale, design, and baseline characteristics of the first 11,764 enrollees von Gong, Xun, Liu, Wei-xiang, Li, Da, Peng, Qiu-wei, Xia, Cong-min, Chang, Tian, Guan, Jin-zhi, Song, Meng-ge, Zhang, Fu-yuan, Tang, Xiao-po, Liu, Ying, Liu, Jian, Peng, Jiang-yun, He, Dong-yi, Huang, Qing-chun, Gao, Ming-li, Yu, Jian-ping, Liu, Wei, Zhang, Jian-yong, Zhu, Yue-lan, Hou, Xiu-juan, Wang, Hai-dong, Fang, Yong-fei, Wang, Yue, Su, Yin, Tian, Xin-ping, Su, Xiao, Meng, Qing-liang, Wen, Shu-yun, Wang, Bei, Li, Ze-guang, Liu, Ju, Jiang, Hong, Hu, Yan, Li, Hui-Ling, Wei, Shu-Feng, Zhu, Wan-Hua, Lyu, Ai-ping, Zhang, Chi, Jiang, Quan

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Incidence, risk factors, management strategies, and outcomes of antibody-mediated rejection in pediatric kidney transplant recipients—a multicenter analysis of the Cooperative Euro... von Fichtner, Alexander, Gauché, Laura, Süsal, Caner, Tran, Thuong Hien, Waldherr, Rüdiger, Krupka, Kai, Guzzo, Isabella, Carraro, Andrea, Oh, Jun, Zirngibl, Matthias, Weitz, Marcus, König, Jens, Büscher, Anja, Berta, Laszlo, Simon, Thomas, Awan, Atif, Rusai, Krisztina, Topaloglu, Rezan, Peruzzi, Licia, Printza, Nikoleta, Kim, Jon Jin, Weber, Lutz T., Melk, Anette, Pape, Lars, Rieger, Susanne, Patry, Christian, Höcker, Britta, Tönshoff, Burkhard

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Implementation of a “real-world” learning health care system: Washington state's Comparative Effectiveness Research Translation Network (CERTAIN) von Flum, David R., MD, MPH, Alfonso-Cristancho, Rafael, MD, MSc, PhD, Devine, Emily B., PharmD, PhD, MBA, Devlin, Allison, MS, Farrokhi, Ellen, MD, Tarczy-Hornoch, Peter, MD, Kessler, Larry, ScD, Lavallee, Danielle, PharmD, PhD, Patrick, Donald L., PhD, Gore, John L., MD, Sullivan, Sean D., PhD

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A model for incorporating patient and stakeholder voices in a learning health care network: Washington State's Comparative Effectiveness Research Translation Network von Devine, Emily Beth, Alfonso-Cristancho, Rafael, Devlin, Allison, Edwards, Todd C, Farrokhi, Ellen T, Kessler, Larry, Lavallee, Danielle C, Patrick, Donald L, Sullivan, Sean D, Tarczy-Hornoch, Peter, Yanez, N. David, Flum, David R

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Interleukin‐2 (IL‐2) receptor γ chain mutations in X‐linked severe combined immunodeficiency disease result in the loss of high‐affinity IL‐2 receptor binding von Disanto, James P., Certain, Stéphanie, Fischer, Alain, Basile, Geneviève De Saint, Dautry‐Varsat, Alice

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Variability in invasive mediastinal staging for lung cancer: A multicenter regional study von Thornblade, Lucas W., Wood, Douglas E., Mulligan, Michael S., Farivar, Alexander S., Hubka, Michal, Costas, Kimberly E., Krishnadasan, Bahirathan, Farjah, Farhood

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Cefepime–Taniborbactam in Complicated Urinary Tract Infection von Wagenlehner, Florian M., Gasink, Leanne B., McGovern, Paul C., Moeck, Greg, McLeroth, Patrick, Dorr, MaryBeth, Dane, Aaron, Henkel, Tim

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A Survey on Critical Care Resources and Practices in Low- and Middle-Income Countries von Vukoja, Marija, Riviello, Elisabeth, Gavrilovic, Srdjan, Adhikari, Neill K.J, Kashyap, Rahul, Bhagwanjee, Satish, Gajic, Ognjen, Kilickaya, Oguz

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Development of an Emergency Department Safety Checklist through a global consensus process von Rovati, Lucrezia, Privitera, Daniele, Finch, Alexander S, Litell, John M, Brogan, Autumn M, Tekin, Aysun, Castillo Zambrano, Claudia, Dong, Yue, Gajic, Ognjen, Madsen, Bo E

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