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The italian national genomic strategy: current status, challenges, and future perspectives in clinical practice and public health Causio, Francesco Andrea; Farina, Sara; Maio, Alessandra; Beccia, Flavia; Russo, Luigi; Baccolini, Valentina; Chiara, Matteo; Cicchetti, Americo; Colombo, Gualtiero I.; Comande, Giovanni; Coviello, Domenico; De Maria, Ruggero; Delledonne, Massimo; De Vito, Corrado; Galeone, Daniela; Gasparini, Paolo; Horner, David; Martinelli, Giovanni; Marzuillo, Carolina; Palazzani, Laura; Pitini, Erica; Sanguinetti, Maurizio; Scarpa, Aldo; Tartaglia, Marco; Tiziano, Francesco Danilo; Tonon, Giovanni; Dallapiccola, Bruno; Villari, Paolo; Calabro, Giovanna Elisa; Boccia, Stefania Share Save
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Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study) Grati, Francesca Romana; Bestetti, Ilaria; de Siero, Daria; Malvestiti, Francesca; Villa, Nicoletta; Sala, Elena; Crosti, Francesca; Parisi, Valentina; Nardone, Anna Maria; Di Giacomo, Gianluca; Pettinari, Antonella; Tortora, Giada; Montaldi, Annamaria; Calo, Annapaola; Saccilotto, Donatella; Zanchetti, Sara; Celli, Paola; Guerneri, Silvana; Silipigni, Rosamaria; Cardarelli, Laura; Lippi, Elisabetta; Cavani, Simona; Malacarne, Michela; Genesio, Rita; Beltrami, Nicola; Pittalis, Maria Carla; Desiderio, Laura; Gentile, Mattia; Ficarella, Romina; Recalcati, Maria Paola; Catusi, Ilaria; Garzo, Maria; Miele, Lorena; Corti, Cecilia; Ghezzo, Sara; Bertini, Veronica; Cambi, Francesca; Valetto, Angelo; Facchinetti, Barbara; Bernardini, Laura; Capalbo, Anna; Balducci, Federica; Pelo, Elisabetta; Minuti, Barbara; Pescucci, Chiara; Giuliani, Costanza; Renieri, Alessandra; Longo, Ilaria; Tita, Rossella; Castello, Giuseppe; Casalone, Rosario; Righi, Rossana; Raso, Barbara; Civolani, Alessandro; Muzi, Maria Cristina; di Natale, Manuela; Varriale, Luigia; Gasperini, Daniela; Nuzzi, Maria Cristina; Cellamare, Angelo; Casieri, Paola; Busuito, Rosa; Ceccarini, Caterina; Cesarano, Carla; Privitera, Orsola; Melani, Daniela; Menozzi, Cristina; Falcinelli, Cristina; Calabrese, Olga; Battaglia, Paola; Tanzariello, Antonella; Stampalija, Tamara; Ardisia, Carmela; Gasparini, Paolo; Benn, Peter; Novelli, Antonio Share Save
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction Reurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L. Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G. Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E.; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A.; ten Brink, Jacoline B.; Klaver, Caroline C. W.; Tranebjaerg, Lisbeth; Rendtorff, Nanna D.; Vermeer, Sascha; Smits, Jeroen J.; Pennings, Ronald J. E.; Aben, Marco; Oostrik, Jaap; Astuti, Galuh D. N.; Galbany, Jordi Corominas; Kroes, Hester Y.; Phan, Milan; Zelst-Stams, Wendy A. G. van; Thiadens, Alberta A. H. J.; Verheij, Joke B. G. M.; Schooneveld, Mary J. van; Bruijn, Suzanne E. de; Li, Catherina H. Z.; Hoyng, Carel B.; Gilissen, Christian; Vissers, Lisenka E. L. M.; Cremers, Frans P. M.; Kremer, Hannie; van Wijk, Erwin; Roosing, Susanne Share Save
Circular RNAs Could Encode Unique Proteins and Affect Cancer Pathways Crudele, Francesca; Bianchi, Nicoletta; Terrazzan, Anna; Ancona, Pietro; Frassoldati, Antonio; Gasparini, Paolo; D'Adamo, Adamo P.; Papaioannou, Dimitrios; Garzon, Ramiro; Wojcicka, Anna; Gaj, Pawel; Jazdzewski, Krystian; Palatini, Jeffrey; Volinia, Stefano Share Save
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High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis Tesolin, Paola; Bertinetto, Francesca Eleonora; Sonaglia, Arianna; Cappellani, Stefania; Concas, Maria Pina; Morgan, Anna; Ferrero, Norma Maria; Zabotti, Alen; Gasparini, Paolo; Amoroso, Antonio; Quartuccio, Luca; Girotto, Giorgia Share Save
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Genome-wide association studies on Northern Italy isolated populations provide further support concerning genetic susceptibility for major depressive disorder Dattilo, Vincenzo; Ulivi, Sheila; Minelli, Alessandra; La Bianca, Martina; Giacopuzzi, Edoardo; Bortolomasi, Marco; Bignotti, Stefano; Gennarelli, Massimo; Gasparini, Paolo; Concas, Maria Pina Share Save
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals Winkler, Thomas W.; Rasheed, Humaira; Teumer, Alexander; Gorski, Mathias; Rowan, Bryce X.; Stanzick, Kira J.; Thomas, Laurent F.; Tin, Adrienne; Hoppmann, Anselm; Chu, Audrey Y.; Tayo, Bamidele; Thio, Chris H. L.; Cusi, Daniele; Chai, Jin-Fang; Sieber, Karsten B.; Horn, Katrin; Li, Man; Scholz, Markus; Cocca, Massimiliano; Wuttke, Matthias; van der Most, Peter J.; Yang, Qiong; Ghasemi, Sahar; Nutile, Teresa; Li, Yong; Pontali, Giulia; Guenther, Felix; Dehghan, Abbas; Correa, Adolfo; Parsa, Afshin; Feresin, Agnese; de Vries, Aiko P. J.; Zonderman, Alan B.; Smith, Albert, V; Oldehinkel, Albertine J.; De Grandi, Alessandro; Rosenkranz, Alexander R.; Franke, Andre; Teren, Andrej; Metspalu, Andres; Hicks, Andrew A.; Morris, Andrew P.; Toenjes, Anke; Morgan, Anna; Podgornaia, Anna, I; Peters, Annette; Koerner, Antje; Mahajan, Anubha; Campbell, Archie; Freedman, Barry, I; Spedicati, Beatrice; Ponte, Belen; Schoettker, Ben; Brumpton, Ben; Banas, Bernhard; Kraemer, Bernhard K.; Jung, Bettina; Asvold, Bjorn Olav; Smith, Blair H.; Ning, Boting; Penninx, Brenda W. J. H.; Vanderwerff, Brett R.; Psaty, Bruce M.; Kammerer, Candace M.; Langefeld, Carl D.; Hayward, Caroline; Spracklen, Cassandra N.; Robinson-Cohen, Cassianne; Hartman, Catharina A.; Lindgren, Cecilia M.; Wang, Chaolong; Sabanayagam, Charumathi; Heng, Chew-Kiat; Lanzani, Chiara; Khor, Chiea-Chuen; Cheng, Ching-Yu; Fuchsberger, Christian; Gieger, Christian; Shaffer, Christian M.; Schulz, Christina-Alexandra; Willer, Cristen J.; Chasman, Daniel, I; Gudbjartsson, Daniel F.; Ruggiero, Daniela; Toniolo, Daniela; Czamara, Darina; Porteous, David J.; Waterworth, Dawn M.; Mascalzoni, Deborah; Mook-Kanamori, Dennis O.; Reilly, Dermot F.; Daw, E. Warwick; Hofer, Edith; Boerwinkle, Eric; Salvi, Erika; Bottinger, Erwin P.; Tai, E-Shyong; Catamo, Eulalia; Rizzi, Federica; Guo, Feng; Rivadeneira, Fernando; Guilianini, Franco; Sveinbjornsson, Gardar; Ehret, Georg; Waeber, Gerard; Biino, Ginevra; Girotto, Giorgia; Pistis, Giorgio; Nadkarni, Girish N.; Delgado, Graciela E.; Montgomery, Grant W.; Snieder, Harold; Campbell, Harry; White, Harvey D.; Gao, He; Stringham, Heather M.; Schmidt, Helena; Li, Hengtong; Brenner, Hermann; Holm, Hilma; Kirsten, Holgen; Kramer, Holly; Rudan, Igor; Nolte, Ilja M.; Tzoulaki, Ioanna; Olafsson, Isleifur; Martins, Jade; Cook, James P.; Wilson, James F.; Halbritter, Jan; Felix, Janine F.; Divers, Jasmin; Kooner, Jaspal S.; Lee, Jeannette Jen-Mai; O'Connell, Jeffrey; Rotter, Jerome, I; Liu, Jianjun; Xu, Jie; Thiery, Joachim; Arnlov, Johan; Kuusisto, Johanna; Jakobsdottir, Johanna; Tremblay, Johanne; Chambers, John C.; Whitfield, John B.; Gaziano, John M.; Marten, Jonathan; Coresh, Josef; Jonas, Jost B.; Mychaleckyj, Josyf C.; Christensen, Kaare; Eckardt, Kai-Uwe; Mohlke, Karen L.; Endlich, Karlhans; Dittrich, Katalin; Ryan, Kathleen A.; Rice, Kenneth M.; Taylor, Kent D.; Ho, Kevin; Nikus, Kjell; Matsuda, Koichi; Strauch, Konstantin; Miliku, Kozeta; Hveem, Kristian; Lind, Lars; Wallentin, Lars; Yerges-Armstrong, Laura M.; Raffield, Laura M.; Phillips, Lawrence S.; Launer, Lenore J.; Lyytikainen, Leo-Pekka; Lange, Leslie A.; Citterio, Lorena; Klaric, Lucija; Ikram, M. Arfan; Ising, Marcus; Kleber, Marcus E.; Francescatto, Margherita; Concas, Maria Pina; Ciullo, Marina; Piratsu, Mario; Orho-Melander, Marju; Laakso, Markku; Loeffler, Markus; Perola, Markus; de Borst, Martin H.; Gogele, Martin; La Bianca, Martina; Lukas, Mary Ann; Feitosa, Mary F.; Biggs, Mary L.; Wojczynski, Mary K.; Kavousi, Maryam; Kanai, Masahiro; Akiyama, Masato; Yasuda, Masayuki; Nauck, Matthias; Waldenberger, Melanie; Chee, Miao-Li; Chee, Miao-Ling; Boehnke, Michael; Preuss, Michael H.; Stumvoll, Michael; Province, Michael A.; Evans, Michele K.; O'Donoghue, Michelle L.; Kubo, Michiaki; Kahonen, Mika; Kastarinen, Mika; Nalls, Mike A.; Kuokkanen, Mikko; Ghanbari, Mohsen; Bochud, Murielle; Josyula, Navya Shilpa; Martin, Nicholas G.; Tan, Nicholas Y. Q.; Palmer, Nicholette D.; Pirastu, Nicola; Schupf, Nicole; Verweij, Niek; Hutri-Kahonen, Nina; Mononen, Nina; Bansal, Nisha; Devuyst, Olivier; Melander, Olle; Raitakari, Olli T.; Polasek, Ozren; Manunta, Paolo; Gasparini, Paolo; Mishra, Pashupati P.; Sulem, Patrick; Magnusson, Patrik K. E.; Elliott, Paul; Ridker, Paul M.; Hamet, Pavel; Svensson, Per O.; Joshi, Peter K.; Kovacs, Peter; Pramstaller, Peter P.; Rossing, Peter; Vollenweider, Peter; van der Harst, Pim; Dorajoo, Rajkumar; Sim, Ralene Z. H.; Burkhardt, Ralph; Tao, Ran; Noordam, Raymond; Magi, Reedik; Schmidt, Reinhold; de Mutsert, Renee; Rueedi, Rico; van Dam, Rob M.; Carroll, Robert J.; Gansevoort, Ron T.; Loos, Ruth J. F.; Felicita, Sala Cinzia; Sedaghat, Sanaz; Padmanabhan, Sandosh; Freitag-Wolf, Sandra; Pendergrass, Sarah A.; Graham, Sarah E.; Gordon, Scott D.; Hwang, Shih-Jen; Kerr, Shona M.; Vaccargiu, Simona; Patil, Snehal B.; Hallan, Stein; Bakker, Stephan J. L.; Lim, Su-Chi; Lucae, Susanne; Vogelezang, Suzanne; Bergmann, Sven; Corre, Tanguy; Ahluwalia, Tarunveer S.; Lehtimaki, Terho; Boutin, Thibaud S.; Meitinger, Thomas; Wong, Tien-Yin; Bergler, Tobias; Rabelink, Ton J.; Esko, Tonu; Haller, Toomas; Thorsteinsdottir, Unnur; Voelker, Uwe; Foo, Valencia Hui Xian; Salomaa, Veikko; Vitart, Veronique; Giedraitis, Vilmantas; Gudnason, Vilmundur; Jaddoe, Vincent W. V.; Huang, Wei; Zhang, Weihua; Wei, Wen Bin; Kiess, Wieland; Marz, Winfried; Koenig, Wolfgang; Lieb, Wolfgang; Gao, Xin; Sim, Xueling; Wang, Ya Xing; Friedlander, Yechiel; Tham, Yih-Chung; Kamatani, Yoichiro; Okada, Yukinori; Milaneschi, Yuri; Yu, Zhi; Stark, Klaus J.; Stefansson, Kari; Boeger, Carsten A.; Hung, Adriana M.; Kronenberg, Florian; Koettgen, Anna; Pattaro, Cristian; Heid, Iris M. Share Save
Large-scale GWAS of food liking reveals genetic determinants and genetic correlations with distinct neurophysiological traits May-Wilson, Sebastian; Matoba, Nana; Wade, Kaitlin H.; Hottenga, Jouke-Jan; Concas, Maria Pina; Mangino, Massimo; Grzeszkowiak, Eryk J.; Menni, Cristina; Gasparini, Paolo; Timpson, Nicholas J.; Veldhuizen, Maria G.; de Geus, Eco; Wilson, James F.; Pirastu, Nicola Share Save
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Altered Taste Function in Young Individuals With Type 1 Diabetes Catamo, Eulalia; Robino, Antonietta; Tinti, Davide; Dovc, Klemen; Franceschi, Roberto; Giangreco, Manuela; Gasparini, Paolo; Barbi, Egidio; Cauvin, Vittoria; Rabbone, Ivana; Battelino, Tadej; Tornese, Gianluca Share Save
Combined influence of TAS2R38 genotype and PROP phenotype on the intensity of basic tastes, astringency and pungency in the Italian taste project Robino, Antonietta; Concas, Maria Pina; Spinelli, Sara; Pierguidi, Lapo; Tepper, Beverly J.; Gasparini, Paolo; Prescott, John; Monteleone, Erminio; Toschi, Tullia Gallina; Torri, Luisa; Pagliarini, Ella; Gasperi, Flavia; Dinnella, Caterina Share Save
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