Genuardi, Maurizio
Genuardi, Maurizio
ROMA - Dipartimento di Scienze della vita e sanità pubblica
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.
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.
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
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
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
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
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
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
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center
2022 Poliani, L; Greco, L; Barile, M; Buono, Ad; Bianchi, P; Basso, G; Giatti, V; Genuardi, Maurizio; Malesci, A; Laghi, L
European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer
2022 I Vergote, 1; A González-Martín, 2; I Ray-Coquard, 3; P Harter, 4; N Colombo, 5; P Pujol, 6; D Lorusso, 7; M R Mirza, 8; B Brasiuniene, 9; R Madry, 10; J, D Brenton 11; M G E, M Ausems 12; R Büttner, 13; D Lambrechts, 14; Genuardi, Maurizio; European experts’ consensus, Group
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis
2022 Abiusi, Emanuela; Vaisfeld, Alessandro; Fiori, Simona; Novelli, A; Spartano, Serena; Faggiano, Maria Vittoria; 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; Bertini, Enrico Silvio; Lanzone, Antonio; Lamarca, G; Genuardi, Maurizio; Pane, Marika; Donati, Ma; Mercuri, Eugenio Maria; Tiziano, Francesco Danilo
Gastrointestinal manifestarions in PTEN hamartoma tumor syndrome.
2022 D'Emo, G.; Genuardi, Maurizio
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 | 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. | |
| 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 | 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 | 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-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 | 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 | 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 | 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-2022 | Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center | Poliani, L; Greco, L; Barile, M; Buono, Ad; Bianchi, P; Basso, G; Giatti, V; Genuardi, Maurizio; Malesci, A; Laghi, L | |
| 1-gen-2022 | European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer | I Vergote, 1; A González-Martín, 2; I Ray-Coquard, 3; P Harter, 4; N Colombo, 5; P Pujol, 6; D Lorusso, 7; M R Mirza, 8; B Brasiuniene, 9; R Madry, 10; J, D Brenton 11; M G E, M Ausems 12; R Büttner, 13; D Lambrechts, 14; Genuardi, Maurizio; European experts’ consensus, Group | |
| 1-gen-2022 | 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, Maria Vittoria; 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; Bertini, Enrico Silvio; Lanzone, Antonio; Lamarca, G; Genuardi, Maurizio; Pane, Marika; Donati, Ma; Mercuri, Eugenio Maria; Tiziano, Francesco Danilo | |
| 1-gen-2022 | Gastrointestinal manifestarions in PTEN hamartoma tumor syndrome. | D'Emo, G.; Genuardi, Maurizio | |
| 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 |