IDH2 inhibition enhances proteasome inhibitor responsiveness in hematological malignancies von Bergaggio, Elisa, Riganti, Chiara, Garaffo, Giulia, Vitale, Nicoletta, Mereu, Elisabetta, Bandini, Cecilia, Pellegrino, Elisa, Pullano, Verdiana, Omedè, Paola, Todoerti, Katia, Cascione, Luciano, Audrito, Valentina, Riccio, Anna, Rossi, Antonio, Bertoni, Francesco, Deaglio, Silvia, Neri, Antonino, Palumbo, Antonio, Piva, Roberto

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Preclinical alternative drug discovery programs for monogenic rare diseases. Should small molecules or gene therapy be used? The case of hereditary spastic paraplegias von Sebastiano, Matteo Rossi, Hadano, Shinji, Cesca, Fabrizia, Caron, Giulia, Lamacchia, Lorenzo, Francisco, Serena, Brusco, Alfredo, Pullano, Verdiana, Baj, Gabriele, Gurgone, Antonia, Chiantia, Giuseppe, Giustetto, Maurizio, Russo, Silvia, Higgins, Anna J., van Putte, Wouter, Vecchia, Stefania Della, Battini, Roberta, Maria Santorelli, Filippo, Ermondi, Giuseppe

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Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome von Carli, Diana, Cardaropoli, Simona, Tessaris, Daniele, Coppo, Paola, La Selva, Roberta, Cesario, Claudia, Lepri, Francesca Romana, Pullano, Verdiana, Palumbo, Martina, Ramenghi, Ugo, Brusco, Alfredo, Medico, Enzo, De Sanctis, Luisa, Ferrero, Giovanni Battista, Mussa, Alessandro

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Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes von Giovenino, Chiara, Trajkova, Slavica, Pavinato, Lisa, Cardaropoli, Simona, Pullano, Verdiana, Ferrero, Enza, Sukarova-Angelovska, Elena, Carestiato, Silvia, Salmin, Paola, Rinninella, Antonina, Battaglia, Anthony, Bertoli, Luca, Fadda, Antonio, Palermo, Flavia, Carli, Diana, Mussa, Alessandro, Dimartino, Paola, Bruselles, Alessandro, Froukh, Tawfiq, Mandrile, Giorgia, Pasini, Barbara, De Rubeis, Silvia, Buxbaum, Joseph D, Pippucci, Tommaso, Tartaglia, Marco, Rossato, Marzia, Delledonne, Massimo, Ferrero, Giovanni Battista, Brusco, Alfredo

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Identification of the DNA methylation signature of Mowat-Wilson syndrome von Caraffi, Stefano Giuseppe, van der Laan, Liselot, Rooney, Kathleen, Trajkova, Slavica, Zuntini, Roberta, Relator, Raissa, Haghshenas, Sadegheh, Levy, Michael A, Baldo, Chiara, Mandrile, Giorgia, Lauzon, Carolyn, Cordelli, Duccio Maria, Ivanovski, Ivan, Fetta, Anna, Sukarova, Elena, Brusco, Alfredo, Pavinato, Lisa, Pullano, Verdiana, Zollino, Marcella, McConkey, Haley, Tartaglia, Marco, Ferrero, Giovanni Battista, Sadikovic, Bekim, Garavelli, Livia

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Identification of the DNA methylation signature of Mowat-Wilson syndrome von Caraffi, Stefano Giuseppe, van der Laan, Liselot, Rooney, Kathleen, Trajkova, Slavica, Zuntini, Roberta, Relator, Raissa, Haghshenas, Sadegheh, Levy, Michael A, Baldo, Chiara, Mandrile, Giorgia, Lauzon, Carolyn, Cordelli, Duccio Maria, Ivanovski, Ivan, Fetta, Anna, Sukarova, Elena, Brusco, Alfredo, Pavinato, Lisa, Pullano, Verdiana, Zollino, Marcella, McConkey, Haley, Tartaglia, Marco, Ferrero, Giovanni Battista, Sadikovic, Bekim, Garavelli, Livia

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Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus von Scala, Marcello, Bradley, Clarrisa A., Howe, Jennifer L., Trost, Brett, Salazar, Nelson Bautista, Shum, Carole, Mendes, Marla, Reuter, Miriam S., Anagnostou, Evdokia, MacDonald, Jeffrey R., Ko, Sangyoon Y., Frankland, Paul W., Charlebois, Jessica, Elsabbagh, Mayada, Granger, Leslie, Anadiotis, George, Pullano, Verdiana, Brusco, Alfredo, Keller, Roberto, Parisotto, Sarah, Pedro, Helio F., Lusk, Laina, McDonnell, Pamela Pojomovsky, Helbig, Ingo, Mullegama, Sureni V., Douine, Emilie D., Corona, Rosario Ivetth, Russell, Bianca E., Nelson, Stanley F., Graziano, Claudio, Schwab, Maria, Simone, Laurie, Zara, Federico, Scherer, Stephen W.

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DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity von Trajkova, Slavica, Kerkhof, Jennifer, Rossi Sebastiano, Matteo, Pavinato, Lisa, Ferrero, Enza, Giovenino, Chiara, Carli, Diana, Di Gregorio, Eleonora, Marinoni, Roberta, Mandrile, Giorgia, Palermo, Flavia, Carestiato, Silvia, Cardaropoli, Simona, Pullano, Verdiana, Rinninella, Antonina, Giorgio, Elisa, Pippucci, Tommaso, Dimartino, Paola, Rzasa, Jessica, Rooney, Kathleen, McConkey, Haley, Petlichkovski, Aleksandar, Pasini, Barbara, Sukarova-Angelovska, Elena, Campbell, Christopher M., Metcalfe, Kay, Jenkinson, Sarah, Banka, Siddharth, Mussa, Alessandro, Ferrero, Giovanni Battista, Sadikovic, Bekim, Brusco, Alfredo

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