Evaluating the Utility of a New Pathogenicity Predictor for Pediatric Cardiomyopathy von Rippert, Alyssa L., Trackman, Sarah, Burstein, Danielle, Gaynor, J. William, Griffis, Heather, Seymour, Christine, Ahrens-Nicklas, Rebecca

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A Novel Alu Element Insertion in ATM Induces Exon Skipping in Suspected HBOC Patients von Klein, Janin, Allister, Aldrige B., Schmidt, Gunnar, Otto, Annette, Heinecke, Kai, Bax-Knoche, Jördis, Beger, Carmela, Becker, Sarah, Bartels, Stephan, Ripperger, Tim, Bohne, Jens, Dörk, Thilo, Schlegelberger, Brigitte, Hofmann, Winfried, Steinemann, Doris

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ESHG warns against misuses of genetic tests and biobanks for discrimination purposes von Forzano, Francesca, Genuardi, Maurizio, Moreau, Yves

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Correction: ESHG warns against misuses of genetic tests and biobanks for discrimination purposes von Forzano, Francesca, Genuardi, Maurizio, Moreau, Yves

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Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome von Sangiorgi, Eugenio, Azzarà, Alessia, Molinario, Clelia, Pietrobono, Roberta, Rigante, Donato, Verrecchia, Elena, Sicignano, Ludovico Luca, Genuardi, Maurizio, Gurrieri, Fiorella, Manna, Raffaele

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Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A p... von Blatter, Robert, Tschupp, Benjamin, Aretz, Stefan, Bernstein, Inge, Colas, Chrystelle, Evans, D. Gareth, Genuardi, Maurizio, Hes, Frederik J., Hüneburg, Robert, Järvinen, Heikki, Lalloo, Fiona, Moeslein, Gabriela, Renkonen-Sinisalo, Laura, Resta, Nicoletta, Spier, Isabel, Varvara, Dora, Vasen, Hans, Latchford, Andrew R., Heinimann, Karl

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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results von Plon, Sharon E, Eccles, Diana M, Easton, Douglas, Foulkes, William D, Genuardi, Maurizio, Greenblatt, Marc S, Hogervorst, Frans B.L, Hoogerbrugge, Nicoline, Spurdle, Amanda B, Tavtigian, Sean V

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Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice von Forzano, Francesca, Antonova, Olga, Clarke, Angus, de Wert, Guido, Hentze, Sabine, Jamshidi, Yalda, Moreau, Yves, Perola, Markus, Prokopenko, Inga, Read, Andrew, Reymond, Alexandre, Stefansdottir, Vigdis, van El, Carla, Genuardi, Maurizio

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A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer von Viel, Alessandra, Bruselles, Alessandro, Meccia, Ettore, Fornasarig, Mara, Quaia, Michele, Canzonieri, Vincenzo, Policicchio, Eleonora, Urso, Emanuele Damiano, Agostini, Marco, Genuardi, Maurizio, Lucci-Cordisco, Emanuela, Venesio, Tiziana, Martayan, Aline, Diodoro, Maria Grazia, Sanchez-Mete, Lupe, Stigliano, Vittoria, Mazzei, Filomena, Grasso, Francesca, Giuliani, Alessandro, Baiocchi, Marta, Maestro, Roberta, Giannini, Giuseppe, Tartaglia, Marco, Alexandrov, Ludmil B., Bignami, Margherita

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Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene von Nobile, Veronica, Palumbo, Federica, Lanni, Stella, Ghisio, Valentina, Vitali, Alberto, Castagnola, Massimo, Marzano, Valeria, Maulucci, Giuseppe, De Angelis, Claudio, De Spirito, Marco, Pacini, Laura, D’Andrea, Laura, Ragno, Rino, Stazi, Giulia, Valente, Sergio, Mai, Antonello, Chiurazzi, Pietro, Genuardi, Maurizio, Neri, Giovanni, Tabolacci, Elisabetta

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Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation von Tabolacci, Elisabetta, Pomponi, Maria Grazia, Remondini, Laura, Pietrobono, Roberta, Nobile, Veronica, Pennacchio, Gaetana, Gurrieri, Fiorella, Neri, Giovanni, Genuardi, Maurizio, Chiurazzi, Pietro

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Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy von Pastorino, Roberta, Basile, Michele, Tognetto, Alessia, Di Marco, Marco, Grossi, Adriano, Lucci-Cordisco, Emanuela, Scaldaferri, Franco, De Censi, Andrea, Federici, Antonio, Villari, Paolo, Genuardi, Maurizio, Ricciardi, Walter, Boccia, Stefania

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Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach von Di Pietro, Maria Luisa, Zaçe, Drieda, Orfino, Alessia, Di Raimo, Francesca Romana, Poscia, Andrea, de Matteis, Elisabetta, Turchetti, Daniela, Godino, Lea, Bertonazzi, Benedetta, Franiuk, Marzena, Bruzzone, Carla, Varesco, Liliana, Lucci-Cordisco, Emanuela, Genuardi, Maurizio

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Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (M... von Aretz, Stefan, Genuardi, Maurizio, Hes, Frederik J

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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant von Borghesi, Alessandro, Mencarelli, Maria Antonietta, Memo, Luigi, Ferrero, Giovanni Battista, Bartuli, Andrea, Genuardi, Maurizio, Stronati, Mauro, Villani, Alberto, Renieri, Alessandra, Corsello, Giovanni

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Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers von Marangi, Giuseppe, Garcovich, Simone, Sante, Gabriele Di, Orteschi, Daniela, Frangella, Silvia, Scaldaferri, Franco, Genuardi, Maurizio, Peris, Ketty, Gurrieri, Fiorella, Zollino, Marcella

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Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach von Di Pietro, Maria Luisa, Zaçe, Drieda, Orfino, Alessia, Di Raimo, Francesca Romana, Poscia, Andrea, de Matteis, Elisabetta, Turchetti, Daniela, Godino, Lea, Bertonazzi, Benedetta, Franiuk, Marzena, Bruzzone, Carla, Varesco, Liliana, Lucci-Cordisco, Emanuela, Genuardi, Maurizio

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Gastrointestinal manifestations in PTEN hamartoma tumor syndrome von D'Ermo, Giuseppe, Genuardi, Maurizio

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3q29 microduplication syndrome: New evidence for the refinement of the critical region von Bauleo, Alessia, Pace, Vincenza, Montesanto, Alberto, De Stefano, Laura, Brando, Rossella, Puntorieri, Domenica, Cento, Luca, Genuardi, Maurizio, Falcone, Elena

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Workload measurement for molecular genetics laboratory: A survey study von Tagliafico, Enrico, Bernardis, Isabella, Grasso, Marina, D'Apice, Maria Rosaria, Lapucci, Cristina, Botta, Annalisa, Giachino, Daniela Francesca, Marinelli, Maria, Primignani, Paola, Russo, Silvia, Sani, Ilaria, Seia, Manuela, Fini, Sergio, Rimessi, Paola, Tenedini, Elena, Ravani, Anna, Genuardi, Maurizio, Ferlini, Alessandra

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