The role of genetic testing in the identification of young athletes with inherited primitive cardiac disorders at risk of exercise sudden-death by Francesco Danilo Tiziano, Vincenzo Palmieri, Maurizio Genuardi, Paolo Zeppilli

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A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report by Cristina Grippaudo, Concetta Cafiero, Isabella D’Apolito, Agnese Re, Maurizio Genuardi, Pietro Chiurazzi, Sylvia A. Frazier-Bowers

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A rare combination consisting of aldosterone-producing adenoma and adrenal myelolipoma in a patient with heterozygosity for retinoblastoma (RB) gene by Chiara Caliumi, Giorgio De Toma, Alfredo Bossini, Rosario Cianci, Cesare Bosman, Maurizio Genuardi, Sabrina Cerci, Claudio Letizia

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

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Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid by Eugenio Sangiorgi, Federico Giannuzzi, Clelia Molinario, Giulia Rapari, Melania Riccio, Giovanni Cuffaro, Federica Castri, Roberta Benvenuto, Maurizio Genuardi, Daniela Massi, Gustavo Savino

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Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report by Valeria Novelli, Antonio Bisignani, Gemma Pelargonio, Guido Primiano, Maria Lucia Narducci, Vincenzo Palmieri, Francesco Danilo Tiziano, Paolo Zeppilli, Serenella Servidei, Filippo Crea, Maurizio Genuardi

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Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability by Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, Daniela Orteschi, Federica Francesca L’Erario, Paola Concolino, Angelo Minucci, Carlo Dionisi-Vici, Maurizio Genuardi, Gabriella Silvestri, Pietro Chiurazzi

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

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

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Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis by Elisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, Roberta Pietrobono, Daniela Orteschi, Veronica Nobile, Cecilia Pucci, Elisa Musto, Marika Pane, Eugenio M. Mercuri, Giovanni Neri, Maurizio Genuardi, Pietro Chiurazzi, Marcella Zollino

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Integrating a Comprehensive Cancer Genome Profiling into Clinical Practice: A Blueprint in an Italian Referral Center by Camilla Nero, Simona Duranti, Flavia Giacomini, Angelo Minucci, Luciano Giacò, Alessia Piermattei, Maurizio Genuardi, Tina Pasciuto, Andrea Urbani, Gennaro Daniele, Domenica Lorusso, Raffaele Pignataro, Giampaolo Tortora, Nicola Normanno, Giovanni Scambia

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Mother and Daughter Carrying of the Same Pathogenic Variant in <i>FGFR2</i> with Discordant Phenotype by Filomena Lo Vecchio, Elisabetta Tabolacci, Veronica Nobile, Maria Grazia Pomponi, Roberta Pietrobono, Giovanni Neri, Simona Amenta, Ettore Candida, Cristina Grippaudo, Ettore Lo Cascio, Alessia Vita, Federica Tiberio, Alessandro Arcovito, Wanda Lattanzi, Maurizio Genuardi, Pietro Chiurazzi

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Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases – Is It Time to Update the EU’s Orphan Regulation? And if so, What Should be Changed? by Denis Horgan, Barbara Moss, Stefania Boccia, Maurizio Genuardi, Maciej Gajewski, Gabriele Capurso, Pierre Fenaux, Beatrice Gulbis, Mariangela Pellegrini, Maria del Mar Mañú Pereira, Victoria Gutiérrez Valle, Iñaki  Gutiérrez Ibarluzea, Alastair Kent, Ivana Cattaneo, Beata Jagielska, Ivica Belina, Birute Tumiene, Adrian Ward, Marisa Papaluca

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

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<i>BRCA1/2</i> Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories by Ettore Capoluongo, Nicla La Verde, Massimo Barberis, Maria Angela Bella, Fiamma Buttitta, Paola Carrera, Nicoletta Colombo, Laura Cortesi, Maurizio Genuardi, Massimo Gion, Valentina Guarneri, Domenica Lorusso, Antonio Marchetti, Paolo Marchetti, Nicola Normanno, Barbara Pasini, Matilde Pensabene, Sandro Pignata, Paolo Radice, Enrico Ricevuto, Anna Sapino, Pierosandro Tagliaferri, Pierfrancesco Tassone, Chiara Trevisiol, Mauro Truini, Liliana Varesco, Antonio Russo, Stefania Gori

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Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in <em>ACD</em>, <em>ATM</em>, <em>BAP1</em>, and <em>POT1</em> by Lorenza Pastorino, Virginia Andreotti, Bruna Dalmasso, Irene Vanni, Giulia Ciccarese, Mario Mandalà, Giuseppe Spadola, Maria Antonietta Pizzichetta, Giovanni Ponti, Maria Grazia Tibiletti, Elena Sala, Maurizio Genuardi, Pietro Chiurazzi, Gabriele Maccanti, Siranoush Manoukian, Serena Sestini, Rita Danesi, Valentina Zampiga, Roberta La Starza, Ignazio Stanganelli, Alberto Ballestrero, Luca Mastracci, Federica Grillo, Stefania Sciallero, Federica Cecchi, Enrica Teresa Tanda, Francesco Spagnolo, Paola Queirolo, Italian Melanoma Intergroup (IMI), Alisa M. Goldstein, William Bruno, Paola Ghiorzo

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Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation by Bryony A. Thompson, Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee, Fahd Al-Mulla, Daniel Buchanan, Susan Farrington, Ian Frayling, Maurizio Genuardi, Elke Holinski-Feder, Maija R. J. Kohonen-Corish, Andreas Laner, Alexandra Martins, Finlay Macrae, Pål Møller, Monika Morak, Elisabet Ognedal, John-Paul Plazzer, Lene Juel Rasmussen, Carli Tops

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Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report by Toni Seppälä, Kirsi Pylvänäinen, Dafydd Gareth Evans, Heikki Järvinen, Laura Renkonen-Sinisalo, Inge Bernstein, Elke Holinski-Feder, Paola Sala, Annika Lindblom, Finlay Macrae, Ignacio Blanco, Rolf Sijmons, Jacqueline Jeffries, Hans Vasen, John Burn, Sigve Nakken, Eivind Hovig, Einar Andreas Rødland, Kukatharmini Tharmaratnam, Wouter H. de Vos tot Nederveen Cappel, James Hill, Juul Wijnen, Mark Jenkins, Maurizio Genuardi, Kate Green, Fiona Lalloo, Lone Sunde, Miriam Mints, Lucio Bertario, Marta Pineda, Matilde Navarro, Monika Morak, Ian M. Frayling, John-Paul Plazzer, Julian R. Sampson, Gabriel Capella, Gabriela Möslein, Jukka-Pekka Mecklin, Pål Møller, in collaboration with The Mallorca Group

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