Opportunities and tradeoffs in single-cell transcriptomic technologies von Conte, Matilde I, Fuentes-Trillo, Azahara, Domínguez Conde, Cecilia

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SARS-CoV-2 infection induces DNA damage, through CHK1 degradation and impaired 53BP1 recruitment, and cellular senescence von Gioia, Ubaldo, Tavella, Sara, Martínez-Orellana, Pamela, Cicio, Giada, Colliva, Andrea, Ceccon, Marta, Cabrini, Matteo, Henriques, Ana C., Fumagalli, Valeria, Paldino, Alessia, Presot, Ettore, Rajasekharan, Sreejith, Iacomino, Nicola, Pisati, Federica, Matti, Valentina, Sepe, Sara, Conte, Matilde I., Barozzi, Sara, Lavagnino, Zeno, Carletti, Tea, Volpe, Maria Concetta, Cavalcante, Paola, Iannacone, Matteo, Rampazzo, Chiara, Bussani, Rossana, Tripodo, Claudio, Zacchigna, Serena, Marcello, Alessandro, d’Adda di Fagagna, Fabrizio

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Incontinentia pigmenti: report on data from 2000 to 2013 von Fusco, Francesca, Paciolla, Mariateresa, Conte, Matilde Immacolata, Pescatore, Alessandra, Esposito, Elio, Mirabelli, Peppino, Lioi, Maria Brigida, Ursini, Matilde Valeria

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Human NK cell deficiency as a result of biallelic mutations in MCM10 von Mace, Emily M, Paust, Silke, Conte, Matilde I, Baxley, Ryan M, Schmit, Megan M, Patil, Sagar L, Guilz, Nicole C, Mukherjee, Malini, Pezzi, Ashley E, Chmielowiec, Jolanta, Tatineni, Swetha, Chinn, Ivan K, Akdemir, Zeynep Coban, Jhangiani, Shalini N, Muzny, Donna M, Stray-Pedersen, Asbjørg, Bradley, Rachel E, Moody, Mo, Connor, Philip P, Heaps, Adrian G, Steward, Colin, Banerjee, Pinaki P, Gibbs, Richard A, Borowiak, Malgorzata, Lupski, James R, Jolles, Stephen, Bielinsky, Anja K, Orange, Jordan S

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Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia von Conte, Matilde I, Poli, M Cecilia, Taglialatela, Angelo, Leuzzi, Giuseppe, Chinn, Ivan K, Salinas, Sandra A, Rey-Jurado, Emma, Olivares, Nixa, Veramendi-Espinoza, Liz, Ciccia, Alberto, Lupski, James R, Aldave Becerra, Juan Carlos, Mace, Emily M, Orange, Jordan S

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Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males von Fusco, Francesca, Conte, Matilde Immacolata, Diociaiuti, Andrea, Bigoni, Stefania, Branda, Maria Francesca, Ferlini, Alessandra, El Hachem, Maya, Ursini, Matilde Valeria

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An ELF4 hypomorphic variant results in NK cell deficiency von Salinas, Sandra Andrea, Mace, Emily M, Conte, Matilde I, Park, Chun Shik, Li, Yu, Rosario-Sepulveda, Joshua I, Mahapatra, Sanjana, Moore, Emily K, Hernandez, Evelyn R, Chinn, Ivan K, Reed, Abigail E, Lee, Barclay J, Frumovitz, Alexander, Gibbs, Richard A, Posey, Jennifer E, Forbes Satter, Lisa R, Thatayatikom, Akaluck, Allenspach, Eric J, Wensel, Theodore G, Lupski, James R, Lacorazza, H Daniel, Orange, Jordan S

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CDC45 haploinsufficiency as a novel cause of natural killer cell deficiency von Guilz, Nicole C., Conte, Matilde I, Salinas, S. Andrea, Chinn, Ivan K., Lupski, James R., Mace, Emily M

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Partial loss of function mutations in GINS4 lead to natural killer cell deficiency with neutropenia von Conte, Matilde, Taglialatela, Angelo, Leuzzi, Giuseppe, Chinn, Ivan, Salinas, Sandra, Poli, Cecilia, Espinoza, Liz Veramendi, Ciccia, Alberto, Lupski, James, Becerra, Juan Aldave, Mace, Emily, Orange, Jordan

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Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease von Conte, Matilde Immacolata, Pescatore, Alessandra, Paciolla, Mariateresa, Esposito, Elio, Miano, Maria Giuseppina, Lioi, Maria Brigida, McAleer, Maeve A., Giardino, Giuliana, Pignata, Claudio, Irvine, Alan D., Scheuerle, Angela E., Royer, Ghislaine, Hadj-Rabia, Smail, Bodemer, Christine, Bonnefont, Jean-Paul, Munnich, Arnold, Smahi, Asma, Steffann, Julie, Fusco, Francesca, Ursini, Matilde Valeria

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B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand von Giardino, Giuliana, Cirillo, Emilia, Gallo, Vera, Esposito, Tiziana, Fusco, Francesca, Conte, Matilde Immacolata, Quinti, Isabella, Ursini, Matilde Valeria, Carsetti, Rita, Pignata, Claudio

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Rare Mendelian Primary Immunodeficiency diseases associated to impaired NF-κB signaling von Paciolla, Mariateresa, Pescatore, Alessandra, Conte, Matilde Immacolata, Esposito, Elio, Incoronato, Mariarosaria, Lioi, Maria Brigida, Fusco, Francesca, Ursini, Matilde Valeria

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Neuroendocrine tumors of the gastro-entero-pancreatic system von Massironi, Sara, Sciola, Valentina, Peracchi, Maddalena, Ciafardini, Clorinda, Spampatti, Matilde Pia, Conte, Dario

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Evolution of HER2-low expression from primary to recurrent breast cancer von Miglietta, Federica, Griguolo, Gaia, Bottosso, Michele, Giarratano, Tommaso, Lo Mele, Marcello, Fassan, Matteo, Cacciatore, Matilde, Genovesi, Elisa, De Bartolo, Debora, Vernaci, Grazia, Amato, Ottavia, Conte, PierFranco, Guarneri, Valentina, Dieci, Maria Vittoria

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Transition to secondary progression in relapsing-onset multiple sclerosis: Definitions and risk factors von Iaffaldano, Pietro, Lucisano, Giuseppe, Patti, Francesco, Brescia Morra, Vincenzo, De Luca, Giovanna, Lugaresi, Alessandra, Zaffaroni, Mauro, Inglese, Matilde, Salemi, Giuseppe, Cocco, Eleonora, Conte, Antonella, Ferraro, Diana, Galgani, Simonetta, Bergamaschi, Roberto, Pozzilli, Carlo, Salvetti, Marco, Lus, Giacomo, Rovaris, Marco, Maniscalco, Giorgia Teresa, Logullo, Francesco Ottavio, Paolicelli, Damiano, Achille, Mariaclara, Marrazzo, Giuseppina, Lovato, Valeria, Comi, Giancarlo, Filippi, Massimo, Amato, Maria Pia, Trojano, Maria

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Enzymatically active apurinic/apyrimidinic endodeoxyribonuclease 1 is released by mammalian cells through exosomes von Mangiapane, Giovanna, Parolini, Isabella, Conte, Kristel, Malfatti, Matilde Clarissa, Corsi, Jessica, Sanchez, Massimo, Pietrantoni, Agostina, D’Agostino, Vito G., Tell, Gianluca

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Clinical impact of videocapsule and double balloon enteroscopy on small bowel bleeding: Results from a large monocentric cohort in the last 19 years von Elli, Luca, Scaramella, Lucia, Tontini, Gian Eugenio, Topa, Matilde, Conte, Dario, Sidhu, Reena, Rondonotti, Emanuele, Penagini, Roberto, Vecchi, Maurizio

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Long-term disability trajectories in relapsing multiple sclerosis patients treated with early intensive or escalation treatment strategies von Iaffaldano, Pietro, Lucisano, Giuseppe, Caputo, Francesca, Paolicelli, Damiano, Patti, Francesco, Zaffaroni, Mauro, Brescia Morra, Vincenzo, Pozzilli, Carlo, De Luca, Giovanna, Inglese, Matilde, Salemi, Giuseppe, Maniscalco, Giorgia Teresa, Cocco, Eleonora, Sola, Patrizia, Lus, Giacomo, Conte, Antonella, Amato, Maria Pia, Granella, Franco, Gasperini, Claudio, Bellantonio, Paolo, Totaro, Rocco, Rovaris, Marco, Salvetti, Marco, Torri Clerici, Valentina Liliana Adriana, Bergamaschi, Roberto, Maimone, Davide, Scarpini, Elio, Capobianco, Marco, Comi, Giancarlo, Filippi, Massimo, Trojano, Maria

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Towards a validated definition of the clinical transition to secondary progressive multiple sclerosis: A study from the Italian MS Register von Iaffaldano, Pietro, Lucisano, Giuseppe, Guerra, Tommaso, Patti, Francesco, Onofrj, Marco, Brescia Morra, Vincenzo, Zaffaroni, Mauro, Pozzilli, Carlo, Cocco, Eleonora, Sola, Patrizia, Salemi, Giuseppe, Inglese, Matilde, Bergamaschi, Roberto, Gasperini, Claudio, Conte, Antonella, Salvetti, Marco, Lus, Giacomo, Maniscalco, Giorgia Teresa, Totaro, Rocco, Vianello, Marika, Granella, Franco, Ferraro, Elisabetta, Aguglia, Umberto, Gatto, Maurizia, Sangalli, Francesca, Chisari, Clara Grazia, De Luca, Giovanna, Carotenuto, Antonio, Baroncini, Damiano, Colombo, Delia, Nica, Mihaela, Paolicelli, Damiano, Comi, Giancarlo, Filippi, Massimo, Amato, Maria Pia, Trojano, Maria

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Relapse‐associated worsening in a real‐life multiple sclerosis cohort: the role of age and pyramidal phenotype von Zanghì, Aurora, Galgani, Simonetta, Bellantonio, Paolo, Zaffaroni, Mauro, Borriello, Giovanna, Inglese, Matilde, Romano, Silvia, Conte, Antonella, Patti, Francesco, Trojano, Maria, Avolio, Carlo, D'Amico, Emanuele

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