Godino, Lea; Ambrosini, Enrico; Barili, Valeria; Graziano, Claudio; Garavelli, Livia; Calabrese, Olga; Neri, Marcella; Sangiorgi, Luca; Bertonazzi, Benedetta; Innella, Giovanni; Turchetti, Daniela; Percesepe, Antonio, Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study, «JOURNAL OF COMMUNITY GENETICS», 2025, 16, pp. 139 - 150 [articolo]Open Access
Innella, Giovanni; Fortuno, Cristina; Caleca, Laura; Feng, Bing-Jian; Carroll, Courtney; Parsons, Michael T; Miccoli, Sara; Montagna, Marco; Calistri, Daniele; Cortesi, Laura; Pasini, Barbara; Manoukian, Siranoush; Giachino, Daniela; Matricardi, Laura; Foti, Maria Cristina; Zampiga, Valentina; Piombino, Claudia; Barbieri, Elena; Lutati, Francesca Vignolo; Azzolini, Jacopo; Danesi, Rita; Arcangeli, Valentina; Caputo, Sandrine M; Boutry-Kryza, Nadia; Goussot, Vincent; Hiraki, Susan; Richardson, Marcy; Ferrari, Simona; Radice, Paolo; Spurdle, Amanda B; Turchetti, Daniela, Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management, «CANCER MEDICINE», 2024, 13, pp. 1 - 13 [articolo]Open Access
Fortuno, Cristina; Feng, Bing-Jian; Carroll, Courtney; Innella, Giovanni; Kohlmann, Wendy; Lázaro, Conxi; Brunet, Joan; Feliubadaló, Lidia; Iglesias, Silvia; Menéndez, Mireia; Teulé, Alex; Ballinger, Mandy L; Thomas, David M; Campbell, Ainsley; Field, Mike; Harris, Marion; Kirk, Judy; Pachter, Nicholas; Poplawski, Nicola; Susman, Rachel; Tucker, Kathy; Wallis, Mathew; Williams, Rachel; Cops, Elisa; Goldgar, David; James, Paul A; Spurdle, Amanda B, Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum, «JCO PRECISION ONCOLOGY», 2024, 8, Article number: e2300453, pp. 1 - 18 [articolo]
Innella, Giovanni; Ferrari, Simona; Miccoli, Sara; Luppi, Elena; Fortuno, Cristina; Parsons, Michael T; Spurdle, Amanda B; Turchetti, Daniela, Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2, «JOURNAL OF MEDICAL GENETICS», 2024, 61, pp. 483 - 489 [articolo]Open Access
Innella, Giovanni; Coccia, Emanuele; Cristalli, Carlotta Pia; Zacchi, Eliana; Calabrese, Sara; Bacchi, Isabelle; Palombo, Flavia; Taormina, Sara; Evangelisti, Cecilia; Lanzoni, Giulia; Carelli, Valerio; Diquigiovanni, Chiara; Ferrari, Simona; Panza, Emanuele; Rossi, Cesare; Vaisfeld, Alessandro; Bonora, Elena; Turchetti, Daniela, Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice, «CLINICAL GENETICS», 2024, ., pp. 1 - 6 [articolo]Open Access
Severi, Giulia; Ambrosini, Enrico; Caramanna, Luca; Monti, Luigi; Magini, Pamela; Innella, Giovanni, Familial DMRT1-related non-obstructive azoospermia: a case report, «JOURNAL OF ASSISTED REPRODUCTION AND GENETICS», 2024, 0, pp. 1 - 5 [articolo]
Fiorentino, Francesca; Innella, Giovanni; Balducci, Federica; Marullo, Laura; Lanzoni, Giulia; Miccoli, Sara; Cardarelli, Laura; Turchetti, Daniela; Tempesta, Sergio, Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service, «FAMILIAL CANCER», 2024, 24, pp. 1 - 7 [articolo]
Innella, Giovanni; Ferrari, Simona; Miccoli, Sara; Turchetti, Daniela, Light and shade of multigene panel testing for hereditary cancer: Examples from the real world, «TUMORI», 2024, 0, pp. 1 - 7 [articolo]
Olivucci, Giulia; Iovino, Emanuela; Innella, Giovanni; Turchetti, Daniela; Pippucci, Tommaso; Magini, Pamela, Long read sequencing on its way to the routine diagnostics of genetic diseases, «FRONTIERS IN GENETICS», 2024, 15, pp. - - - [articolo]Open Access
Fortuno, Cristina; Cops, Elisa J; Davidson, Aimee L; Hadler, Johanna; Innella, Giovanni; Mckenzie, Maddison E; Parsons, Michael; Campbell, Ainsley M; Dubowsky, Andrew; Fargas, Verna; Field, Michael J; Mar Fan, Helen G; Nichols, Cassandra B; Poplawski, Nicola K; Warwick, Linda; Williams, Rachel; Beshay, Victoria; Edwards, Caitlin; Johns, Andrea; Mcphillips, Mary; Kumar, Vanessa Siva; Scott, Rodney; Williams, Mark; Scott, Hamish; James, Paul A; Spurdle, Amanda B, Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres, «EUROPEAN JOURNAL OF HUMAN GENETICS», 2024, 32, pp. 1632 - 1639 [articolo]Open Access
Hendricks, Linda A J; Hoogerbrugge, Nicoline; Mensenkamp, Arjen R; Brunet, Joan; Lleuger-Pujol, Roser; Høberg-Vetti, Hildegunn; Haavind, Marianne Tveit; Innella, Giovanni; Turchetti, Daniela; Aretz, Stefan; Spier, Isabel; Tischkowitz, Marc; Jahn, Arne; Links, Thera P; Olderode-Berends, Maran J W; Blatnik, Ana; Leter, Edward M; Evans, D Gareth; Woodward, Emma R; Steinke-Lange, Verena; Anastasiadou, Violetta C; Colas, Chrystelle; Villy, Marie-Charlotte; Benusiglio, Patrick R; Gerasimenko, Anna; Barili, Valeria; Branchaud, Maud; Houdayer, Claude; Tesi, Bianca; Yazicioglu, M Omer; van der Post, Rachel S; Schuurs-Hoeijmakers, Janneke H M; van Hest, Liselotte P; Adank, Muriel A; Duijkers, Floor; Nielsen, Maartje; Verbeek, Katja C J; van Ierland, Yvette; Giltay, Jacques C; Vos, Janet R, Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome, «JOURNAL OF THE NATIONAL CANCER INSTITUTE», 2023, 115, pp. 93 - 103 [articolo]Open Access
Trevisan, Lucia; Godino, Lea; Battistuzzi, Linda; Innella, Giovanni; Luppi, Elena; Buzzatti, Giulia; Gismondi, Viviana; Blondeaux, Eva; Bonelli, Luigina Ada; Turchetti, Daniela; Varesco, Liliana, Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?, «FAMILIAL CANCER», 2023, ?, pp. ? - ? [articolo]
Barbero, Giovanna; Zuntini, Roberta; Magini, Pamela; Desiderio, Laura; Bonaguro, Michela; Perrone, Anna Myriam; Rubino, Daniela; Grippa, Mina; De Leo, Antonio; Ceccarelli, Claudio; Godino, Lea; Miccoli, Sara; Ferrari, Simona; Santini, Donatella; De Iaco, Pierandrea; Zamagni, Claudio; Innella, Giovanni; Turchetti, Daniela, Characterization of BRCA Deficiency in Ovarian Cancer, «CANCERS», 2023, 15, Article number: 1530, pp. 1 - 18 [articolo]Open Access
Innella, Giovanni; Godino, Lea; Erini, Giulia; De Leo, Antonio; Santini, Donatella; Perrone, Anna Myriam; De Iaco, Pierandrea; Zamagni, Claudio; Turchetti, Daniela, Factors predicting BRCA1/2 pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis, «JOURNAL OF CLINICAL PATHOLOGY», 2023, 208753, pp. 510 - 517 [articolo]
Innella, Giovanni; Scarano, Emanuela; Palumbo, Pietro; Carella, Massimo; Severi, Giulia, New clinical features in an adult patient with Skraban-Deardorff syndrome, «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2022, N/A, pp. N/A - N/A [articolo]