Ambrosetti, Irene; Cristalli, Carlotta Pia; Montanari, Francesca; Caramanna, Luca; Modestino, Francesco; Capelli, Irene; Aiello, Valeria; Lerario, Sarah; Evangelisti, Cecilia; Neri, Iria; Brunocilla, Eugenio; Rossi, Cesare; Seri, Marco; Turchetti, Daniela; Innella, Giovanni, Low-Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review, «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2026, x, pp. 1 - 9 [articolo]
Hendricks, Linda A J; Verbeek, Katja C J; Schuurs-Hoeijmakers, Janneke H M; De Putter, Robin; Brems, Hilde; Van Daele, Sien H; Anastasiadou, Violetta C; Foretová, Lenka; Benusiglio, Patrick R; Gerasimenko, Anna; Colas, Chrystelle; Villy, Marie-Charlotte; Houdayer, Claude; Branchaud, Maud; Hüneburg, Robert; Aretz, Stefan; Jahn, Arne; Steinke-Lange, Verena; Innella, Giovanni; Turchetti, Daniela; Barili, Valeria; Genuardi, Maurizio; Panfili, Arianna; Baldassarri, Margherita; Irmejs, Arvīds; De Jong, Mirjam M; Links, Thera P; Leter, Edward M; Bosch, Daniëlle G M; Donze, Stephany H; Van Der Post, Rachel S; Mensenkamp, Arjen R; Westdorp, Harm; Høberg-Vetti, Hildegunn; Tveit Haavind, Marianne; Jørgensen, Kjersti; Mæhle, Lovise; Briskemyr, Siri; Garcia, Juliette Dupont; Blatnik, Ana; Balmaña, Judith; Torres, Maite; Brunet, Joan; Lleuger-Pujol, Roser; Tham, Emma; Tischkowitz, Marc; Evans, D Gareth; Hyder, Zerin; Hoogerbrugge, Nicoline; Vos, Janet R, Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study, «BJC REPORTS», 2025, 3, Article number: 42, pp. 1 - 10 [articolo]Open Access
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, G.; Erini, G.; De Leo, A.; Godino, L.; Caramanna, L.; Ferrari, S.; Miccoli, S.; Perrone, A. M.; Zamagni, C.; De Iaco, P.; Turchetti, D.; Rucci, P., Development of a risk score based on clinical–pathological features to predict the presence of germline BRCA1/2 pathogenic variants in ovarian cancer patients, «ESMO OPEN», 2025, 10, Article number: 105300, pp. 1 - 7 [articolo]Open Access
Innella, Giovanni; Erini, Giulia; De Leo, Antonio; Godino, Lea; Caramanna, Luca; Ferrari, Simona; Miccoli, Sara; Perrone, Anna Myriam; Zamagni, Claudio; De Iaco, Pierandrea; Turchetti, Daniela; Rucci, Paola, Machine learning prediction of germline BRCA1/2 pathogenic variants in patients with ovarian cancer, «BMJ HEALTH & CARE INFORMATICS», 2025, 32, pp. 1 - 5 [articolo]
Innella, G.; Erini, G.; De Leo, A.; Godino, L.; Caramanna, L.; Ferrari, S.; Miccoli, S.; Perrone, A. M.; Zamagni, C.; De Iaco, P.; Turchetti, D.; Rucci, P., Response to: Re: ‘Development of a risk score based on clinical–pathological features to predict the presence of germline BRCA1/2 pathogenic variants in ovarian cancer patients’, «ESMO OPEN», 2025, 10, pp. 1 - 2 [articolo]Open Access
Hendricks, Linda A J; Verbeek, Katja C J; Schuurs-Hoeijmakers, Janneke H M; De Jong, Mirjam M; Links, Thera P; Brems, Hilde; Aerden, Mio; Brunet, Joan; Lleuger-Pujol, Roser; Hüneburg, Robert; Aretz, Stefan; Colas, Chrystelle; Villy, Marie-Charlotte; Woodward, Emma R; Evans, D Gareth; Bosch, Daniëlle G M; Donze, Stephany H; Foretová, Lenka; Blatnik, Ana; Leter, Edward M; Tischkowitz, Marc; Jahn, Arne; De Putter, Robin; Dupont, Juliette; Briskemyr, Siri; Steinke-Lange, Verena; Baldassarri, Margherita; Anastasiadou, Violetta C; Irmejs, Arvīds; Oliveira, Carla; Van Der Post, Rachel S; Mensenkamp, Arjen R; Tesi, Bianca; Mu, Ninni; Benusiglio, Patrick R; Gerasimenko, Anna; Innella, Giovanni; Turchetti, Daniela; Houdayer, Claude; Branchaud, Maud; Høberg-Vetti, Hildegunn; Haavind, Marianne Tveit; Balmaña, Judith; Torres, Maite; Genuardi, Maurizio; Panfili, Arianna; Jørgensen, Kjersti; Mæhle, Lovise; Hoogerbrugge, Nicoline; Vos, Janet R, The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS), «GENETICS IN MEDICINE», 2025, 27, Article number: 101467, pp. 1 - 8 [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, 41, pp. 3173 - 3177 [articolo]Open Access
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
