Genuardi, Maurizio
Genuardi, Maurizio
ROMA - Dipartimento di Scienze della vita e sanità pubblica
A decalogue of Molecular Tumor Board (MTB) recommendations from the CAN.HEAL Consortium.
2025 Ciliberto, G; De Maria Marchiano, Ruggero; Giacomini, P; Trapani, Valentina; Betti, Marina Giovanna; Bucci, G; Buglioni, S; D'Auria, Leandro Maria; De Angelis, R; De Nicolo, A; Dupain, C; Frederickx, N; Genuardi, Maurizio; Indraccolo, S; Kolanowska, M; Mazzarella, Luca; Nowak, F; Pallocca, M; Scerri, J; Sgambato, Alessandro; Stoklosa, T; Van Den Bulcke, M; Van Valckenborgh, E; Von Bubnoff, N; Zeuli, M; Kamal, M; Le Tourneau, C.
Advancing towards clear and patient-centred language in cancer genetics.
2025 Van Pottelberghe, S; Hes, Fj; Genuardi, Maurizio
BRCA cascade counselling and testing in Italy: current position and future directions
2025 Costanzo, Simona; Godino, L; De Summa, S; Marvulli, Tm; Genuardi, Maurizio; Di Pietro, Maria Luisa; Cordisco, El; Turchetti, D; Miccoli, S; Deledda, Giulia; Fantoni, G; Viassolo, V; Brunetti, O; De Luca, R; Digennaro, M; Romito, Francesco; Campanella, Massimo Giuseppe; Patruno, M.
Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study
2025 Hendricks, Laj; Verbeek, Kcj; Schuurs-Hoeijmakers, Jhm; De Putter, R; Brems, H; Van Daele, Sh; Anastasiadou, Vc; Foretová, L; Benusiglio, Pr; Gerasimenko, A; Colas, C; Villy, Mc; Houdayer, C; Branchaud, M; Hüneburg, R; Aretz, S; Jahn, A; Steinke-Lange, V; Innella, G; Turchetti, D; Barili, V; Genuardi, Maurizio; Panfili, A; Baldassarri, M; Irmejs, A; De Jong, Mm; Links, Tp; Leter, Em; Bosch, Dgm; Donze, Sh; Van Der Post, Rs; Mensenkamp, Ar; Westdorp, H; Høberg-Vetti, H; Tveit Haavind, M; Jørgensen, K; Mæhle, L; Briskemyr, S; Garcia, Jd; Blatnik, A; Balmaña, J; Torres, M; Brunet, J; Lleuger-Pujol, R; Tham, E; Tischkowitz, M; Evans, Dg; Hyder, Z; Hoogerbrugge, N; Vos, Jr.
Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype.
2025 Bellani, I; Trevisan, Valentina; Viscogliosi, Germana; Pomponi, Mg; Chiurazzi, Pietro; Mussa, A; Zampino, Giuseppe; Genuardi, Maurizio; Leoni, C.
Enviromental maternal exposures and the risk of premature birth and intrauterine growth restriction: The Generation Gemelli study protocol of newborn exposome
2025 Villani, Leonardo; Pezzullo, Angelo Maria; Pastorino, Roberta; Maio, Alessandra; Stollagli, Francesca; Tirone, Chiara; Barba, Marta; Maria Cozzolino, Angela; Pires Marafon, Denise; Porcelli, Martina; Sbordone, Annamaria; Letizia Patti, Maria; Bottoni, Anthea; Paladini, Angela; Fattore, Simona; Romeo, Domenico Marco Maurizio; Parolini, Ornella; Lattanzi, Wanda; Rindi, Guido; Tamagnone, Luca; Marazza, Marco; Genuardi, Maurizio; Tabolacci, Elisabetta; Mercuri, Eugenio Maria; Chiaretti, Antonio; Pasciuto, Tina; Sanguinetti, Maurizio; Valentini, Vincenzo; Scambia, Giovanni; Ricciardi, Walter; Vento, Giovanni; Lanzone, Antonio; Boccia, Stefania
Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes
2025 Hinić, S; Mensenkamp, Ar; Schuurs-Hoeijmakers, Jhm; Brugnoletti, F; Vreede, L; Van Veen, Em; Mijzen, B; Van Der Post, Rs; Genuardi, Maurizio; Ligtenberg, Mjl; Hoogerbrugge, N; De Voer, Rm.
GAPO syndrome: a comprehensive examination and review of 105 clinical cases
2025 Modafferi, Clarissa; D'Ambrosio, P; Andaloro, Silvia; Lauretti, Giulia; Antignani, Fulvia; Pompili, Maurizio; Giuliante, Felice; Biolato, Marco; Niccolini, Benedetta; Fargnoli, Arcangelo; Bogliardi, Francesco Maria; Concolino, Paola; Zampino, Giuseppe; Minucci, Angelo; Genuardi, Maurizio; Tabolacci, Elisabetta; Chiurazzi, Pietro
Lifestyle and environmental factors in women carrying BRCA pathogenic variants with and without cancer
2025 Fabi, Alessandra; Franco, A; Cortesi, L; Lucci Cordisco, Emanuela; Rossi, A; Terribile, Daniela Andreina; Fiorio, E; Paris, Ida; Terrana, G; Mocini, E; Salutari, Vanda; Pavese, F; L'Erario, Federica Francesca; Pasquetti, D; Palazzo, Antonella; Di Guglielmo, Enrico; Sanchez, Alejandro Martin; D'Archi, Sabatino; Giontella, E; Di Leone, Alba; Cardinali, L; Saltarelli, R; Scardina, Lorenzo; Ferretti, E; Carbognin, L; Milella, M; Baldari, C; Bei, R; Carcagni, A; Garganese, Giorgia; Franceschini, Gianluca; Genuardi, Maurizio; Giannarelli, Diana; Migliaccio, S.
Practical tricks and recommendations on BRCA1/2 testing in prostate cancer: From therapy to cancer prevention
2025 Tibiletti, Mg; Carnevali, I; Cimadamore, A; Oliani, C; Lapini, A; Genuardi, Maurizio; Bracarda, S; Rescigno, P
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
2025 Di Giosaffatte, N; Daniele, P; Petrizzelli, F; Iacovino, C; Canciani, C; Garau, Ml; Santoro, Michele Cosimo; Trevisan, Valentina; Panfili, A; Cavone, S; Guida, V; D'Asdia, Mc; Bernardini, Lucia; Majore, S; Ferraris, Alessia; Valiante, M; Gensini, F; Radio, Fc; Tortora, Giampaolo; Cassina, M; Miele, Guglielmo; Priolo, M; Sirchia, F; Piccinno, L; Flex, E; Zampino, Giuseppe; Genuardi, Maurizio; Nigro, V; Salviati, L; Papi, L; Grammatico, P; Leoni, C; Piluso, G; Giustini, S; Mazza, T; Upadhyaya, M; Tartaglia, M; Trevisson, E; De Luca, A.
The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).
2025 Hendricks, Laj; Verbeek, Kcj; Schuurs-Hoeijmakers, Jhm; De Jong, Mm; Links, Tp; Brems, H; Aerden, M; Brunet, J; Lleuger-Pujol, R; Hüneburg, R; Aretz, S; Colas, C; Villy, Mc; Woodward, Er; Evans, Dg; Bosch, Dgm; Donze, Sh; Foretová, L; Blatnik, A; Leter, Em; Tischkowitz, M; Jahn, A; De Putter, R; Dupont, J; Briskemyr, S; Steinke-Lange, V; Baldassarri, M; Anastasiadou, Vc; Irmejs, A; Oliveira, C; Van Der Post, Rs; Mensenkamp, Ar; Tesi, B; Mu, N; Benusiglio, Pr; Gerasimenko, A; Innella, G; Turchetti, D; Houdayer, C; Branchaud, M; Høberg Vetti, H; Tveit Haavind, M; Balmaña, J; Torres, M; Genuardi, Maurizio; Panfili, A; Jørgensen, K; Mæhle, L; Hoogerbrugge, N; Vos, Jr.
A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2?
2024 Biolato, Marco; Terranova, Rosy; Viceconti, Nicholas; Marrone, Giuseppe; Miele, Luca; Giustiniani, Maria Cristina; Francalanci, Paola; Gazzellone, Annalisa; Bauleo, Alessia; Falcone, Elena; Genuardi, Maurizio; Grieco, Antonio
ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome
2024 Geilswijk, M; Genuardi, Maurizio; Woodward, Er; Nightingale, K; Huber, J; Madsen, Mg; van der Heij, D; Lisseman, I; Marle-Ballange, J; Mccarthy, C; Menko, Fh; Moorselaar, Rjav; Radzikowska, E; Richard, S; Rajan, N; Sommerlund, M; Wetscherek, Mta; Di Donato, N; Maher, Er; Brunet, J
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
2024 Spier, I; Yin, X; Richardson, M; Pineda, M; Laner, A; Ritter, D; Boyle, J; Mur, P; Hansen, Tvo; Shi, X; Mahmood, K; Plazzer, Jp; Ognedal, E; Nordling, M; Farrington, Sm; Yamamoto, G; Baert-Desurmont, S; Martins, A; Borras, E; Tops, C; Webb, E; Beshay, V; Genuardi, Maurizio
Genetic counselling legislation and practice in cancer in EU Member States
2024 Mccrary, Jm; Van Valckenborgh, E; Poirel, Ha; de Putter, R; van Rooij, J; Horgan, D; Dierks, Ml; Antonova, O; Brunet, J; Chirita-Emandi, A; Colas, C; Dalmas, M; Ehrencrona, H; Grima, C; Janavičius, R; Klink, B; Koczok, K; Krajc, M; Lace, B; Leitsalu, L; Mistrik, M; Paneque, M; Primorac, D; Roetzer, Km; Ronez, J; Slámová, L; Spanou, E; Stamatopoulos, K; Stoklosa, T; Strang-Karlsson, S; Szakszon, K; Szczałuba, K; Turner, J; van Dooren, Mf; van Zelst-Stams, Wag; Vassallo, Lm; Wadt, Kaw; Žigman, T; Ripperger, T; Genuardi, Maurizio; Van den Bulcke, M; Bergmann, Ak.
Multigenic panels in breast cancer: Clinical utility and management of patients with pathogenic variants other than BRCA1/2
2024 Fabi, A.; Cortesi, L.; Duranti, S.; Lucci Cordisco, Emanuela; Di Leone, Alba; Terribile, Daniela Andreina; Paris, Ida; De Belvis, Antonio; Orlandi, Armando; Marazzi, Fabio; Muratore, Maria Giuseppina; Garganese, Giorgia; Fuso, Paola; Paoletti, Fabio; Dell'Aquila, R.; Minucci, Angelo; Scambia, Giovanni; Franceschini, Gianluca; Masetti, Riccardo; Genuardi, Maurizio
Personalized treatment in a boy with NF1 and inoperable plexiform orbital neurofibroma
2024 Trevisan, Valentina; Viscogliosi, Germana; Savino, Gustavo; Salerni, Annabella; Perri, L; Russo, Rosellina; Benenati, M; Calandrelli, Rosalinda; Onesimo, Roberta; Giorgio, Valentina; Rigante, Donato; Genuardi, Maurizio; Zampino, Giuseppe; Leoni, Chiara
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
2024 Hinić, S; Cybulski, C; Van der Post, Rs; Vos, Jr; Schuurs-Hoeijmakers, J; Brugnoletti, F; Koene, S; Vreede, L; van Zelst-Stams, Wag; Kets, Cm; Haadsma, M; Spruijt, L; Wevers, Mr; Evans, Dg; Wimmer, K; Schnaiter, S; Volk, Ae; Möllring, A; de Putter, R; Soikkonen, L; Kahre, T; Tooming, M; de Jong, Mm; Vaz, F; Mensenkamp, Ar; Genuardi, Maurizio
3q29 microduplication syndrome: New evidence for the refinement of the critical region
2023 Bauleo, A; Pace, V; Montesanto, A; De Stefano, L; Brando, R; Puntorieri, D; Cento, L; Genuardi, Maurizio; Falcone, E.
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2025 | A decalogue of Molecular Tumor Board (MTB) recommendations from the CAN.HEAL Consortium. | Ciliberto, G; De Maria Marchiano, Ruggero; Giacomini, P; Trapani, Valentina; Betti, Marina Giovanna; Bucci, G; Buglioni, S; D'Auria, Leandro Maria; De Angelis, R; De Nicolo, A; Dupain, C; Frederickx, N; Genuardi, Maurizio; Indraccolo, S; Kolanowska, M; Mazzarella, Luca; Nowak, F; Pallocca, M; Scerri, J; Sgambato, Alessandro; Stoklosa, T; Van Den Bulcke, M; Van Valckenborgh, E; Von Bubnoff, N; Zeuli, M; Kamal, M; Le Tourneau, C. | |
| 1-gen-2025 | Advancing towards clear and patient-centred language in cancer genetics. | Van Pottelberghe, S; Hes, Fj; Genuardi, Maurizio | |
| 1-gen-2025 | BRCA cascade counselling and testing in Italy: current position and future directions | Costanzo, Simona; Godino, L; De Summa, S; Marvulli, Tm; Genuardi, Maurizio; Di Pietro, Maria Luisa; Cordisco, El; Turchetti, D; Miccoli, S; Deledda, Giulia; Fantoni, G; Viassolo, V; Brunetti, O; De Luca, R; Digennaro, M; Romito, Francesco; Campanella, Massimo Giuseppe; Patruno, M. | |
| 1-gen-2025 | Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study | Hendricks, Laj; Verbeek, Kcj; Schuurs-Hoeijmakers, Jhm; De Putter, R; Brems, H; Van Daele, Sh; Anastasiadou, Vc; Foretová, L; Benusiglio, Pr; Gerasimenko, A; Colas, C; Villy, Mc; Houdayer, C; Branchaud, M; Hüneburg, R; Aretz, S; Jahn, A; Steinke-Lange, V; Innella, G; Turchetti, D; Barili, V; Genuardi, Maurizio; Panfili, A; Baldassarri, M; Irmejs, A; De Jong, Mm; Links, Tp; Leter, Em; Bosch, Dgm; Donze, Sh; Van Der Post, Rs; Mensenkamp, Ar; Westdorp, H; Høberg-Vetti, H; Tveit Haavind, M; Jørgensen, K; Mæhle, L; Briskemyr, S; Garcia, Jd; Blatnik, A; Balmaña, J; Torres, M; Brunet, J; Lleuger-Pujol, R; Tham, E; Tischkowitz, M; Evans, Dg; Hyder, Z; Hoogerbrugge, N; Vos, Jr. | |
| 1-gen-2025 | Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype. | Bellani, I; Trevisan, Valentina; Viscogliosi, Germana; Pomponi, Mg; Chiurazzi, Pietro; Mussa, A; Zampino, Giuseppe; Genuardi, Maurizio; Leoni, C. | |
| 1-gen-2025 | Enviromental maternal exposures and the risk of premature birth and intrauterine growth restriction: The Generation Gemelli study protocol of newborn exposome | Villani, Leonardo; Pezzullo, Angelo Maria; Pastorino, Roberta; Maio, Alessandra; Stollagli, Francesca; Tirone, Chiara; Barba, Marta; Maria Cozzolino, Angela; Pires Marafon, Denise; Porcelli, Martina; Sbordone, Annamaria; Letizia Patti, Maria; Bottoni, Anthea; Paladini, Angela; Fattore, Simona; Romeo, Domenico Marco Maurizio; Parolini, Ornella; Lattanzi, Wanda; Rindi, Guido; Tamagnone, Luca; Marazza, Marco; Genuardi, Maurizio; Tabolacci, Elisabetta; Mercuri, Eugenio Maria; Chiaretti, Antonio; Pasciuto, Tina; Sanguinetti, Maurizio; Valentini, Vincenzo; Scambia, Giovanni; Ricciardi, Walter; Vento, Giovanni; Lanzone, Antonio; Boccia, Stefania | |
| 1-gen-2025 | Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes | Hinić, S; Mensenkamp, Ar; Schuurs-Hoeijmakers, Jhm; Brugnoletti, F; Vreede, L; Van Veen, Em; Mijzen, B; Van Der Post, Rs; Genuardi, Maurizio; Ligtenberg, Mjl; Hoogerbrugge, N; De Voer, Rm. | |
| 1-gen-2025 | GAPO syndrome: a comprehensive examination and review of 105 clinical cases | Modafferi, Clarissa; D'Ambrosio, P; Andaloro, Silvia; Lauretti, Giulia; Antignani, Fulvia; Pompili, Maurizio; Giuliante, Felice; Biolato, Marco; Niccolini, Benedetta; Fargnoli, Arcangelo; Bogliardi, Francesco Maria; Concolino, Paola; Zampino, Giuseppe; Minucci, Angelo; Genuardi, Maurizio; Tabolacci, Elisabetta; Chiurazzi, Pietro | |
| 1-gen-2025 | Lifestyle and environmental factors in women carrying BRCA pathogenic variants with and without cancer | Fabi, Alessandra; Franco, A; Cortesi, L; Lucci Cordisco, Emanuela; Rossi, A; Terribile, Daniela Andreina; Fiorio, E; Paris, Ida; Terrana, G; Mocini, E; Salutari, Vanda; Pavese, F; L'Erario, Federica Francesca; Pasquetti, D; Palazzo, Antonella; Di Guglielmo, Enrico; Sanchez, Alejandro Martin; D'Archi, Sabatino; Giontella, E; Di Leone, Alba; Cardinali, L; Saltarelli, R; Scardina, Lorenzo; Ferretti, E; Carbognin, L; Milella, M; Baldari, C; Bei, R; Carcagni, A; Garganese, Giorgia; Franceschini, Gianluca; Genuardi, Maurizio; Giannarelli, Diana; Migliaccio, S. | |
| 1-gen-2025 | Practical tricks and recommendations on BRCA1/2 testing in prostate cancer: From therapy to cancer prevention | Tibiletti, Mg; Carnevali, I; Cimadamore, A; Oliani, C; Lapini, A; Genuardi, Maurizio; Bracarda, S; Rescigno, P | |
| 1-gen-2025 | Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer. | Di Giosaffatte, N; Daniele, P; Petrizzelli, F; Iacovino, C; Canciani, C; Garau, Ml; Santoro, Michele Cosimo; Trevisan, Valentina; Panfili, A; Cavone, S; Guida, V; D'Asdia, Mc; Bernardini, Lucia; Majore, S; Ferraris, Alessia; Valiante, M; Gensini, F; Radio, Fc; Tortora, Giampaolo; Cassina, M; Miele, Guglielmo; Priolo, M; Sirchia, F; Piccinno, L; Flex, E; Zampino, Giuseppe; Genuardi, Maurizio; Nigro, V; Salviati, L; Papi, L; Grammatico, P; Leoni, C; Piluso, G; Giustini, S; Mazza, T; Upadhyaya, M; Tartaglia, M; Trevisson, E; De Luca, A. | |
| 1-gen-2025 | The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS). | Hendricks, Laj; Verbeek, Kcj; Schuurs-Hoeijmakers, Jhm; De Jong, Mm; Links, Tp; Brems, H; Aerden, M; Brunet, J; Lleuger-Pujol, R; Hüneburg, R; Aretz, S; Colas, C; Villy, Mc; Woodward, Er; Evans, Dg; Bosch, Dgm; Donze, Sh; Foretová, L; Blatnik, A; Leter, Em; Tischkowitz, M; Jahn, A; De Putter, R; Dupont, J; Briskemyr, S; Steinke-Lange, V; Baldassarri, M; Anastasiadou, Vc; Irmejs, A; Oliveira, C; Van Der Post, Rs; Mensenkamp, Ar; Tesi, B; Mu, N; Benusiglio, Pr; Gerasimenko, A; Innella, G; Turchetti, D; Houdayer, C; Branchaud, M; Høberg Vetti, H; Tveit Haavind, M; Balmaña, J; Torres, M; Genuardi, Maurizio; Panfili, A; Jørgensen, K; Mæhle, L; Hoogerbrugge, N; Vos, Jr. | |
| 1-gen-2024 | A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2? | Biolato, Marco; Terranova, Rosy; Viceconti, Nicholas; Marrone, Giuseppe; Miele, Luca; Giustiniani, Maria Cristina; Francalanci, Paola; Gazzellone, Annalisa; Bauleo, Alessia; Falcone, Elena; Genuardi, Maurizio; Grieco, Antonio | |
| 1-gen-2024 | ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome | Geilswijk, M; Genuardi, Maurizio; Woodward, Er; Nightingale, K; Huber, J; Madsen, Mg; van der Heij, D; Lisseman, I; Marle-Ballange, J; Mccarthy, C; Menko, Fh; Moorselaar, Rjav; Radzikowska, E; Richard, S; Rajan, N; Sommerlund, M; Wetscherek, Mta; Di Donato, N; Maher, Er; Brunet, J | |
| 1-gen-2024 | Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel | Spier, I; Yin, X; Richardson, M; Pineda, M; Laner, A; Ritter, D; Boyle, J; Mur, P; Hansen, Tvo; Shi, X; Mahmood, K; Plazzer, Jp; Ognedal, E; Nordling, M; Farrington, Sm; Yamamoto, G; Baert-Desurmont, S; Martins, A; Borras, E; Tops, C; Webb, E; Beshay, V; Genuardi, Maurizio | |
| 1-gen-2024 | Genetic counselling legislation and practice in cancer in EU Member States | Mccrary, Jm; Van Valckenborgh, E; Poirel, Ha; de Putter, R; van Rooij, J; Horgan, D; Dierks, Ml; Antonova, O; Brunet, J; Chirita-Emandi, A; Colas, C; Dalmas, M; Ehrencrona, H; Grima, C; Janavičius, R; Klink, B; Koczok, K; Krajc, M; Lace, B; Leitsalu, L; Mistrik, M; Paneque, M; Primorac, D; Roetzer, Km; Ronez, J; Slámová, L; Spanou, E; Stamatopoulos, K; Stoklosa, T; Strang-Karlsson, S; Szakszon, K; Szczałuba, K; Turner, J; van Dooren, Mf; van Zelst-Stams, Wag; Vassallo, Lm; Wadt, Kaw; Žigman, T; Ripperger, T; Genuardi, Maurizio; Van den Bulcke, M; Bergmann, Ak. | |
| 1-gen-2024 | Multigenic panels in breast cancer: Clinical utility and management of patients with pathogenic variants other than BRCA1/2 | Fabi, A.; Cortesi, L.; Duranti, S.; Lucci Cordisco, Emanuela; Di Leone, Alba; Terribile, Daniela Andreina; Paris, Ida; De Belvis, Antonio; Orlandi, Armando; Marazzi, Fabio; Muratore, Maria Giuseppina; Garganese, Giorgia; Fuso, Paola; Paoletti, Fabio; Dell'Aquila, R.; Minucci, Angelo; Scambia, Giovanni; Franceschini, Gianluca; Masetti, Riccardo; Genuardi, Maurizio | |
| 1-gen-2024 | Personalized treatment in a boy with NF1 and inoperable plexiform orbital neurofibroma | Trevisan, Valentina; Viscogliosi, Germana; Savino, Gustavo; Salerni, Annabella; Perri, L; Russo, Rosellina; Benenati, M; Calandrelli, Rosalinda; Onesimo, Roberta; Giorgio, Valentina; Rigante, Donato; Genuardi, Maurizio; Zampino, Giuseppe; Leoni, Chiara | |
| 1-gen-2024 | The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2 | Hinić, S; Cybulski, C; Van der Post, Rs; Vos, Jr; Schuurs-Hoeijmakers, J; Brugnoletti, F; Koene, S; Vreede, L; van Zelst-Stams, Wag; Kets, Cm; Haadsma, M; Spruijt, L; Wevers, Mr; Evans, Dg; Wimmer, K; Schnaiter, S; Volk, Ae; Möllring, A; de Putter, R; Soikkonen, L; Kahre, T; Tooming, M; de Jong, Mm; Vaz, F; Mensenkamp, Ar; Genuardi, Maurizio | |
| 1-gen-2023 | 3q29 microduplication syndrome: New evidence for the refinement of the critical region | Bauleo, A; Pace, V; Montesanto, A; De Stefano, L; Brando, R; Puntorieri, D; Cento, L; Genuardi, Maurizio; Falcone, E. |