Emergence of Lyme Disease on the French Riviera, a Retrospective Survey von Sevestre, Jacques, Benichou, Antoine, Rio, Vanessa, Delaunay, Pascal, Gonfrier, Géraldine, Martaresche, Cécile, Carlo, Virginie, Nakam, Sarah, Mondain, Véronique, Carles, Michel, Jeandel, Pierre Yves, Durant, Jacques

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AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data von Quinodoz, Mathieu, Peter, Virginie G, Bedoni, Nicola, Royer Bertrand, Béryl, Cisarova, Katarina, Salmaninejad, Arash, Sepahi, Neda, Rodrigues, Raquel, Piran, Mehran, Mojarrad, Majid, Pasdar, Alireza, Ghanbari Asad, Ali, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Santos, Maria Luisa, Superti-Furga, Andrea, Rivolta, Carlo

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Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity von Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N., Unger, Sheila, Superti-Furga, Andrea, Rivolta, Carlo

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Genomic and transcriptomic landscape of conjunctival melanoma von Cisarova, Katarina, Folcher, Marc, El Zaoui, Ikram, Pescini-Gobert, Rosanna, Peter, Virginie G, Royer-Bertrand, Beryl, Zografos, Leonidas, Schalenbourg, Ann, Nicolas, Michael, Rimoldi, Donata, Leyvraz, Serge, Riggi, Nicolò, Moulin, Alexandre P, Rivolta, Carlo

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Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite von Grünewald, Thomas G P, Bernard, Virginie, Gilardi-Hebenstreit, Pascale, Raynal, Virginie, Surdez, Didier, Aynaud, Marie-Ming, Mirabeau, Olivier, Cidre-Aranaz, Florencia, Tirode, Franck, Zaidi, Sakina, Perot, Gaëlle, Jonker, Anneliene H, Lucchesi, Carlo, Le Deley, Marie-Cécile, Oberlin, Odile, Marec-Bérard, Perrine, Véron, Amélie S, Reynaud, Stephanie, Lapouble, Eve, Boeva, Valentina, Frio, Thomas Rio, Alonso, Javier, Bhatia, Smita, Pierron, Gaëlle, Cancel-Tassin, Geraldine, Cussenot, Olivier, Cox, David G, Morton, Lindsay M, Machiela, Mitchell J, Chanock, Stephen J, Charnay, Patrick, Delattre, Olivier

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A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion von Pierron, Gaëlle, Tirode, Franck, Lucchesi, Carlo, Reynaud, Stéphanie, Ballet, Stelly, Cohen-Gogo, Sarah, Perrin, Virginie, Coindre, Jean-Michel, Delattre, Olivier

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Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice von Moye, Abigail R, Bedoni, Nicola, Cunningham, Jessica G, Sanzhaeva, Urikhan, Tucker, Eric S, Mathers, Peter, Peter, Virginie G, Quinodoz, Mathieu, Paris, Liliana P, Coutinho-Santos, Luísa, Camacho, Pedro, Purcell, Madeleine G, Winkelmann, Abbie C, Foster, James A, Pugacheva, Elena N, Rivolta, Carlo, Ramamurthy, Visvanathan

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Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies von Rehman, Atta Ur, Sepahi, Neda, Bedoni, Nicola, Ravesh, Zeinab, Salmaninejad, Arash, Cancellieri, Francesca, Peter, Virginie G., Quinodoz, Mathieu, Mojarrad, Majid, Pasdar, Alireza, Asad, Ali Ghanbari, Ghalamkari, Saman, Piran, Mehran, Piran, Mehrdad, Superti-Furga, Andrea, Rivolta, Carlo

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Nucleolar protein trafficking in response to HIV-1 Tat: rewiring the nucleolus von Jarboui, Mohamed Ali, Bidoia, Carlo, Woods, Elena, Roe, Barbara, Wynne, Kieran, Elia, Giuliano, Hall, William W, Gautier, Virginie W

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New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV von Peter, Virginie G., Quinodoz, Mathieu, Sadio, Silvia, Held, Sebastian, Rodrigues, Márcia, Soares, Marta, Sousa, Ana Berta, Coutinho Santos, Luisa, Damme, Markus, Rivolta, Carlo

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Surgical increase in thoracic kyphosis predicts increase of cervical lordosis after thoracic fusion for adolescent idiopathic scoliosis von Clement, Jean-Luc, Le Goff, Ludovic, Oborocianu, Ioana, Rosello, Olivier, Bertoncelli, Carlo, Solla, Federico, Rampal, Virginie

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70-Gene Signature as an Aid to Treatment Decisions in Early-Stage Breast Cancer von Cardoso, Fatima, van’t Veer, Laura J, Bogaerts, Jan, Slaets, Leen, Viale, Giuseppe, Delaloge, Suzette, Pierga, Jean-Yves, Brain, Etienne, Causeret, Sylvain, DeLorenzi, Mauro, Glas, Annuska M, Golfinopoulos, Vassilis, Goulioti, Theodora, Knox, Susan, Matos, Erika, Meulemans, Bart, Neijenhuis, Peter A, Nitz, Ulrike, Passalacqua, Rodolfo, Ravdin, Peter, Rubio, Isabel T, Saghatchian, Mahasti, Smilde, Tineke J, Sotiriou, Christos, Stork, Lisette, Straehle, Carolyn, Thomas, Geraldine, Thompson, Alastair M, van der Hoeven, Jacobus M, Vuylsteke, Peter, Bernards, René, Tryfonidis, Konstantinos, Rutgers, Emiel, Piccart, Martine

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Simultaneous Labeling of Adipogenic and Osteogenic Differentiating Stem Cells for Live Confocal Analysis von Vaghi, Patrizia, Oldani, Amanda, Fulghieri, Paola, Pollara, Lidia, Valente, Enza Maria, Sottile, Virginie

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Cladribine and cytarabine in refractory multisystem Langerhans cell histiocytosis: results of an international phase 2 study von Donadieu, Jean, Bernard, Frederic, van Noesel, Max, Barkaoui, Mohamed, Bardet, Odile, Mura, Rosella, Arico, Maurizio, Piguet, Christophe, Gandemer, Virginie, Armari Alla, Corinne, Clausen, Niels, Jeziorski, Eric, Lambilliote, Anne, Weitzman, Sheila, Henter, Jan Inge, Van Den Bos, Cor

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Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective von Austin, Christopher P., Cutillo, Christine M., Lau, Lilian P.L., Jonker, Anneliene H., Rath, Ana, Julkowska, Daria, Thomson, David, Terry, Sharon F., Montleau, Béatrice, Ardigò, Diego, Hivert, Virginie, Boycott, Kym M., Baynam, Gareth, Kaufmann, Petra, Taruscio, Domenica, Lochmüller, Hanns, Suematsu, Makoto, Incerti, Carlo, Draghia‐Akli, Ruxandra, Norstedt, Irene, Wang, Lu, Dawkins, Hugh J.S.

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Fine-tuning FAM161A gene augmentation therapy to restore retinal function von Arsenijevic, Yvan, Chang, Ning, Mercey, Olivier, El Fersioui, Younes, Koskiniemi-Kuendig, Hanna, Joubert, Caroline, Bemelmans, Alexis-Pierre, Rivolta, Carlo, Banin, Eyal, Sharon, Dror, Guichard, Paul, Hamel, Virginie, Kostic, Corinne

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The preventable proportion of healthcare-associated infections 2005-2016: Systematic review and meta-analysis von Schreiber, Peter W, Sax, Hugo, Wolfensberger, Aline, Clack, Lauren, Kuster, Stefan P

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Primary Pulmonary Vein Stenosis: Outcomes, Risk Factors, and Severity Score in a Multicentric Study von Kalfa, David, MD, PhD, Belli, Emre, MD, Bacha, Emile, MD, Lambert, Virginie, MD, PhD, di Carlo, Duccio, MD, Kostolny, Martin, MD, Salminen, Jukka, MD, Nosal, Matej, MD, Poncelet, Alain, MD, PhD, Horer, Jurgen, MD, PhD, Berggren, Hakan, MD, Yemets, Illya, MD, Hazekamp, Mark, MD, Maruszewski, Bohdan, MD, Sarris, George, MD, Pozzi, Marco, MD, Ebels, Tjark, MD, Lacour-Gayet, François, MD

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New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV von Peter, Virginie G., Quinodoz, Mathieu, Sadio, Silvia, Held, Sebastian, Rodrigues, Márcia, Soares, Marta, Sousa, Ana Berta, Santos, Luisa Coutinho, Damme, Markus, Rivolta, Carlo

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The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene von Peter, Virginie G, Quinodoz, Mathieu, Pinto-Basto, Jorge, Sousa, Sergio B, Di Gioia, Silvio Alessandro, Soares, Gabriela, Ferraz Leal, Gabriela, Silva, Eduardo D, Pescini Gobert, Rosanna, Miyake, Noriko, Matsumoto, Naomichi, Engle, Elizabeth C, Unger, Sheila, Shapiro, Frederic, Superti-Furga, Andrea, Rivolta, Carlo, Campos-Xavier, Belinda

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