Sfoglia per Autore
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
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
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.
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
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
Update of penetrance estimates in Birt-Hogg-Dubé syndrome
2023 Bruinsma, Fj; Dowty, Jg; Win, Ak; Goddard, Lc; Agrawal, P; Attina', D; Bissada, N; De Luise, M; Eisen, Db; Furuya, M; Gasparre, G; Genuardi, Maurizio
Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'
2023 Forzano, F; Antonova, O; Clarke, A; de Wert, G; Hentze, S; Jamshidi, Y; Moreau, Y; Perola, M; Prokopenko, I; Read, A; Reymond, A; Stefansdottir, V; van El, C; Genuardi, Maurizio
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
2023 Garcia-Pelaez, J; Barbosa-Matos, R; Lobo, S; Dias, A; Garrido, L; Castedo, S; Sousa, S; Pinheiro, H; Sousa, L; Monteiro, R; Maqueda, Jj; Fernandes, S; Carneiro, F; Pinto, N; Lemos, C; Pinto, C; Teixeira, Mr; Aretz, S; Bajalica-Lagercrantz, S; Balmaña, J; Blatnik, A; Benusiglio, Pr; Blanluet, M; Bours, V; Brems, H; Brunet, J; Genuardi, Maurizio
A conserved motif in the disordered linker of human MLH1 is vital for DNA mismatch repair and its function is diminished by a cancer family mutation
2023 Wolf, K; Kosinski, J; Gibson, Tj; Wesch, N; Dötsch, V; Genuardi, Maurizio; Cordisco, El; Zeuzem, S; Brieger, A; Plotz, G.
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability
2023 Pasquetti, Domizia; Gazzellone, Annalisa; Rossi, S; Orteschi, D; L'Erario, Federica Francesca; Concolino, Paola; Minucci, Angelo; Dionisi-Vici, C; Genuardi, Maurizio; Silvestri, Gabriella; Chiurazzi, Pietro
Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid
2023 Sangiorgi, Eugenio; Giannuzzi, Federico; Molinario, Clelia; Rapari, Giulia; Riccio, Melania; Cuffaro, Giovanni; Castri, Federica; Benvenuto, Roberta; Genuardi, Maurizio; Massi, Daniela; Savino, Gustavo
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.
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis
2023 Abiusi, Emanuela; Vaisfeld, Alessandro; Fiori, Simona; Novelli, A.; Spartano, Serena; Faggiano, M. V.; Giovanniello, T.; Angeloni, A.; Vento, Giovanni; Santoloci, Roberta; Gigli, Francesca; D'Amico, A.; Costa, S.; Porzi, A.; Panella, M.; Ticci, C.; Daniotti, M.; Sacchini, M.; Boschi, I.; Dani, C.; Agostiniani, R.; Bertini, Enrico Silvio; Lanzone, Antonio; Lamarca, G.; Genuardi, Maurizio; Pane, Marika; Donati, M. A.; Mercuri, Eugenio Maria; Tiziano, Francesco Danilo
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?
2022 Lucci-Cordisco, E.; Amenta, S.; Panfili, A.; Del Valle, J.; Capellá, G.; Pineda, M.; Genuardi, M.
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup
2022 Bruno, W; Dalmasso, B; Barile, M; Andreotti, V; Elefanti, L; Colombino, M; Vanni, I; Allavena, E; Barbero, F; Passoni, E; Merelli, B; Pellegrini, S; Morgese, F; Danesi, R; Calò, V; Bazan, V; D'Elia, Av; Molica, C; Gensini, F; Sala, E; Uliana, V; Soma, Pf; Genuardi, M; Ballestrero, A; Spagnolo, F; Tanda, E; Queirolo, P; Mandalà, M; Stanganelli, I; Palmieri, G; Menin, C
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series
2022 Ronzano, N; Scala, M; Abiusi, Emanuela; Contaldo, Ilaria; Leoni, Chiara; Vari, Ms; Pisano, T; Battaglia, Domenica Immacolata; Genuardi, Maurizio; Elia, M; Striano, P; Pruna, D.
The challenge of the Molecular Tumor Board empowerment in clinical oncology practice: A Position Paper on behalf of the AIOM- SIAPEC/IAP-SIBioC-SIC-SIF-SIGU-SIRM Italian Scientific Societies
2022 Antonio Russo, 1; Lorena Incorvaia, 2; Ettore Capoluongo, 3; Pierosandro Tagliaferri, 4; Antonio Galvano, 2; Marzia Del Re, 5; Umberto Malapelle, 6; Rita Chiari, 7; Pierfranco Conte, 8; Romano Danesi, 5; Matteo Fassan, 9; Roberto Ferrara, 10; Genuardi, M; Paola Ghiorzo, 12; Stefania Gori, 13; Fiorella Guadagni, 14; Antonio Marchetti, 15; Paolo Marchetti, 16; Massimo Midiri, 17; Nicola Normanno, 18; Francesco Passiglia, 19; Carmine Pinto, 20; Nicola Silvestris, 21; Giovanni Tallini, 22; Simona Vatrano, 23; Bruno Vincenzi, 24; Saverio Cinieri, 25; Giordano Beretta, 26
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
2022 Francesca Forzano, 1; Olga Antonova, 2; Angus Clarke, 3; Guido de Wert, 4; Sabine Hentze, 5; Yalda Jamshidi, 6; Yves Moreau, 7; Markus Perola, 8; Inga Prokopenko, 9 10 11; Andrew Read, 12; Alexandre Reymond, 13; Vigdis Stefansdottir, 14; Carla van El, 15; Genuardi, M.; 16, 17; Executive Committee of the European Society of Human, Genetics; Public and Professional Policy Committee of the European Society of Human, Genetics
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
2022 Hendricks, Laj; Hoogerbrugge, N; Venselaar, H; Aretz, S; Spier, I; Legius, E; Brems, H; de Putter, R; Claes, Kbm; Evans, Dg; Woodward, Er; Genuardi, Maurizio; Brugnoletti, F; van Ierland, Y; Dijke, K; Tham, E; Tesi, B; Schuurs-Hoeijmakers, Jhm; Branchaud, M; Salvador, H; Jahn, A; Schnaiter, S; Anastasiadou, Vc; Brunet, J; Oliveira, C; Roht, L; Blatnik, A; Irmejs, A; Mensenkamp, Ar; Vos, Jr
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 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 | 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 | 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 | 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 | 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 | Update of penetrance estimates in Birt-Hogg-Dubé syndrome | Bruinsma, Fj; Dowty, Jg; Win, Ak; Goddard, Lc; Agrawal, P; Attina', D; Bissada, N; De Luise, M; Eisen, Db; Furuya, M; Gasparre, G; Genuardi, Maurizio | |
| 1-gen-2023 | Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection' | Forzano, F; Antonova, O; Clarke, A; de Wert, G; Hentze, S; Jamshidi, Y; Moreau, Y; Perola, M; Prokopenko, I; Read, A; Reymond, A; Stefansdottir, V; van El, C; Genuardi, Maurizio | |
| 1-gen-2023 | Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes | Garcia-Pelaez, J; Barbosa-Matos, R; Lobo, S; Dias, A; Garrido, L; Castedo, S; Sousa, S; Pinheiro, H; Sousa, L; Monteiro, R; Maqueda, Jj; Fernandes, S; Carneiro, F; Pinto, N; Lemos, C; Pinto, C; Teixeira, Mr; Aretz, S; Bajalica-Lagercrantz, S; Balmaña, J; Blatnik, A; Benusiglio, Pr; Blanluet, M; Bours, V; Brems, H; Brunet, J; Genuardi, Maurizio | |
| 1-gen-2023 | A conserved motif in the disordered linker of human MLH1 is vital for DNA mismatch repair and its function is diminished by a cancer family mutation | Wolf, K; Kosinski, J; Gibson, Tj; Wesch, N; Dötsch, V; Genuardi, Maurizio; Cordisco, El; Zeuzem, S; Brieger, A; Plotz, G. | |
| 1-gen-2023 | Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability | Pasquetti, Domizia; Gazzellone, Annalisa; Rossi, S; Orteschi, D; L'Erario, Federica Francesca; Concolino, Paola; Minucci, Angelo; Dionisi-Vici, C; Genuardi, Maurizio; Silvestri, Gabriella; Chiurazzi, Pietro | |
| 1-gen-2023 | Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid | Sangiorgi, Eugenio; Giannuzzi, Federico; Molinario, Clelia; Rapari, Giulia; Riccio, Melania; Cuffaro, Giovanni; Castri, Federica; Benvenuto, Roberta; Genuardi, Maurizio; Massi, Daniela; Savino, Gustavo | |
| 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. | |
| 1-gen-2023 | Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis | Abiusi, Emanuela; Vaisfeld, Alessandro; Fiori, Simona; Novelli, A.; Spartano, Serena; Faggiano, M. V.; Giovanniello, T.; Angeloni, A.; Vento, Giovanni; Santoloci, Roberta; Gigli, Francesca; D'Amico, A.; Costa, S.; Porzi, A.; Panella, M.; Ticci, C.; Daniotti, M.; Sacchini, M.; Boschi, I.; Dani, C.; Agostiniani, R.; Bertini, Enrico Silvio; Lanzone, Antonio; Lamarca, G.; Genuardi, Maurizio; Pane, Marika; Donati, M. A.; Mercuri, Eugenio Maria; Tiziano, Francesco Danilo | |
| 1-gen-2022 | Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels? | Lucci-Cordisco, E.; Amenta, S.; Panfili, A.; Del Valle, J.; Capellá, G.; Pineda, M.; Genuardi, M. | |
| 1-gen-2022 | Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup | Bruno, W; Dalmasso, B; Barile, M; Andreotti, V; Elefanti, L; Colombino, M; Vanni, I; Allavena, E; Barbero, F; Passoni, E; Merelli, B; Pellegrini, S; Morgese, F; Danesi, R; Calò, V; Bazan, V; D'Elia, Av; Molica, C; Gensini, F; Sala, E; Uliana, V; Soma, Pf; Genuardi, M; Ballestrero, A; Spagnolo, F; Tanda, E; Queirolo, P; Mandalà, M; Stanganelli, I; Palmieri, G; Menin, C | |
| 1-gen-2022 | Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series | Ronzano, N; Scala, M; Abiusi, Emanuela; Contaldo, Ilaria; Leoni, Chiara; Vari, Ms; Pisano, T; Battaglia, Domenica Immacolata; Genuardi, Maurizio; Elia, M; Striano, P; Pruna, D. | |
| 1-gen-2022 | The challenge of the Molecular Tumor Board empowerment in clinical oncology practice: A Position Paper on behalf of the AIOM- SIAPEC/IAP-SIBioC-SIC-SIF-SIGU-SIRM Italian Scientific Societies | Antonio Russo, 1; Lorena Incorvaia, 2; Ettore Capoluongo, 3; Pierosandro Tagliaferri, 4; Antonio Galvano, 2; Marzia Del Re, 5; Umberto Malapelle, 6; Rita Chiari, 7; Pierfranco Conte, 8; Romano Danesi, 5; Matteo Fassan, 9; Roberto Ferrara, 10; Genuardi, M; Paola Ghiorzo, 12; Stefania Gori, 13; Fiorella Guadagni, 14; Antonio Marchetti, 15; Paolo Marchetti, 16; Massimo Midiri, 17; Nicola Normanno, 18; Francesco Passiglia, 19; Carmine Pinto, 20; Nicola Silvestris, 21; Giovanni Tallini, 22; Simona Vatrano, 23; Bruno Vincenzi, 24; Saverio Cinieri, 25; Giordano Beretta, 26 | |
| 1-gen-2022 | The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice | Francesca Forzano, 1; Olga Antonova, 2; Angus Clarke, 3; Guido de Wert, 4; Sabine Hentze, 5; Yalda Jamshidi, 6; Yves Moreau, 7; Markus Perola, 8; Inga Prokopenko, 9 10 11; Andrew Read, 12; Alexandre Reymond, 13; Vigdis Stefansdottir, 14; Carla van El, 15; Genuardi, M.; 16, 17; Executive Committee of the European Society of Human, Genetics; Public and Professional Policy Committee of the European Society of Human, Genetics | |
| 1-gen-2022 | Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort | Hendricks, Laj; Hoogerbrugge, N; Venselaar, H; Aretz, S; Spier, I; Legius, E; Brems, H; de Putter, R; Claes, Kbm; Evans, Dg; Woodward, Er; Genuardi, Maurizio; Brugnoletti, F; van Ierland, Y; Dijke, K; Tham, E; Tesi, B; Schuurs-Hoeijmakers, Jhm; Branchaud, M; Salvador, H; Jahn, A; Schnaiter, S; Anastasiadou, Vc; Brunet, J; Oliveira, C; Roht, L; Blatnik, A; Irmejs, A; Mensenkamp, Ar; Vos, Jr |
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