GERMANI, Aldo
GERMANI, Aldo
DIPARTIMENTO DI MEDICINA CLINICA E MOLECOLARE
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome
2022 Micolonghi, Caterina; Piane, Maria; Germani, Aldo; Sadeghi, Soha; Libi, Fabio; Savio, Camilla; Fabiani, Marco; Mancini, Rita; Ranieri, Danilo; Pizzuti, Antonio; Corleto, Vito Domenico; Parisi, Pasquale; Visco, Vincenzo; Di Nardo, Giovanni; Petrucci, Simona
A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort
2016 Rubattu, Speranza; Bozzao, Cristina; Pennacchini, Ermelinda; Pagannone, Erika; Musumeci, Maria Beatrice; Piane, Maria; Germani, Aldo; Savio, Camilla; Francia, Pietro; Volpe, Massimo; Autore, Camillo; Chessa, Luciana
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy
2023 Micolonghi, Caterina; Fabiani, Marco; Pagannone, Erika; Savio, Camilla; Ricci, Marta; Caroselli, Silvia; Gambioli, Vittoria; Musumeci, Maria Beatrice; Germani, Aldo; TINI MELATO, Giacomo; Autore, Camillo; Pizzuti, Antonio; Visco, Vincenzo; Rubattu, Speranza Donatella; Petrucci, Simona; Piane, Maria
A SMYD3 small-molecule Inhibitor impairing cancer cell growth
2015 Peserico, Alessia; Germani, Aldo; Sanese, Paola; Barbosa, Armenio Jorge; Di Virgilio, Valeria; Fittipaldi, Raffaella; Fabini, Edoardo; Bertucci, Carlo; Varchi, Greta; Moyer, Mary Pat; Caretti, Giuseppina; Del Rio, Alberto; Simone, Cristiano
Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers
2020 Germani, Aldo; Petrucci, Simona; De Marchis, Laura; Libi, Fabio; Savio, Camilla; Amanti, Claudio; Bonifacino, Adriana; Campanella, Barbara; Capalbo, Carlo; Lombardi, Augusto; Maggi, Stefano; Mattei, Mauro; Osti, Mattia Falchetto; Pellegrini, Patrizia; Speranza, Annarita; Stanzani, Gianluca; Vitale, Valeria; Pizzuti, Antonio; Torrisi, Maria Rosaria; Piane, Maria
Blocking p38/ERK crosstalk affects colorectal cancer growth by inducing apoptosis in vitro and in preclinical mouse models
2012 Chiacchiera, Fulvio; Grossi, Valentina; Cappellari, Marianna; Peserico, Alessia; Simonatto, Marta; Germani, Aldo; Russo, Silvana; Moyer, Mary P.; Resta, Nicoletta; Murzilli, Stefania; Simone, Cristiano
From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways
2022 Bianco, Lavinia; Raffa, Salvatore; Fornelli, Paolo; Mancini, Rita; Gabriele, Angela; Medici, Francesco; Battista, Claudia; Greco, Stefania; Croce, Giuseppe; Germani, Aldo; Petrucci, Simona; Anibaldi, Paolo; Bianco, Valerio; Ronchetti, Mario; Banchieri, Giorgio; Napoli, Christian; Piane, Maria
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer
2022 Germani, Aldo; Guadagnolo, Daniele; Salvati, Valentina; Micolonghi, Caterina; Mancini, Rita; Mastromoro, Gioia; Sadeghi, Soha; Petrucci, Simona; Pizzuti, Antonio; Piane, Maria
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility
2023 Guadagnolo, Daniele; Mastromoro, Gioia; Marchionni, Enrica; Germani, Aldo; Libi, Fabio; Sadeghi, Soha; Savio, Camilla; Petrucci, Simona; De Marchis, Laura; Piane, Maria; Pizzuti, Antonio
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants. An ENIGMA resource to support clinical variant classification
2019 Parsons, Michael T; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso-Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbieri, Elena; Bartram, Claus R; Blanco, Ana; Blümcke, Britta; Bonache, Sandra; Bonanni, Bernardo; Borg, Åke; Bortesi, Beatrice; Brunet, Joan; Bruzzone, Carla; Bucksch, Karolin; Cagnoli, Giulia; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria A; Calvello, Mariarosaria; Capone, Gabriele L; Caputo, Sandrine M; Carnevali, Ileana; Carrasco, Estela; Caux-Moncoutier, Virginie; Cavalli, Pietro; Cini, Giulia; Clarke, Edward M; Concolino, Paola; Cops, Elisa J; Cortesi, Laura; Couch, Fergus J; Darder, Esther; de la Hoya, Miguel; Dean, Michael; Debatin, Irmgard; Del Valle, Jesús; Delnatte, Capucine; Derive, Nicolas; Diez, Orland; Ditsch, Nina; Domchek, Susan M; Dutrannoy, Véronique; Eccles, Diana M; Ehrencrona, Hans; Enders, Ute; Evans, D Gareth; Faust, Ulrike; Felbor, Ute; Feroce, Irene; Fine, Miriam; Galvao, Henrique C R; Gambino, Gaetana; Gehrig, Andrea; Gensini, Francesca; Gerdes, Anne-Marie; Germani, Aldo; Giesecke, Jutta; Gismondi, Viviana; Gómez, Carolina; Gómez Garcia, Encarna B; González, Sara; Grau, Elia; Grill, Sabine; Gross, Eva; Guerrieri-Gonzaga, Aliana; Guillaud-Bataille, Marine; Gutiérrez-Enríquez, Sara; Haaf, Thomas; Hackmann, Karl; Hansen, Thomas V O; Harris, Marion; Hauke, Jan; Heinrich, Tilman; Hellebrand, Heide; Herold, Karen N; Honisch, Ellen; Horvath, Judit; Houdayer, Claude; Hübbel, Verena; Iglesias, Silvia; Izquierdo, Angel; James, Paul A; Janssen, Linda A M; Jeschke, Udo; Kaulfuß, Silke; Keupp, Katharina; Kiechle, Marion; Kölbl, Alexandra; Krieger, Sophie; Kruse, Torben A; Kvist, Anders; Lalloo, Fiona; Larsen, Mirjam; Lattimore, Vanessa L; Lautrup, Charlotte; Ledig, Susanne; Leinert, Elena; Lewis, Alexandra L; Lim, Joanna; Loeffler, Markus; López-Fernández, Adrià; Lucci-Cordisco, Emanuela; Maass, Nicolai; Manoukian, Siranoush; Marabelli, Monica; Matricardi, Laura; Meindl, Alfons; Michelli, Rodrigo D; Moghadasi, Setareh; Moles-Fernández, Alejandro; Montagna, Marco; Montalban, Gemma; Monteiro, Alvaro N; Montes, Eva; Mori, Luigi; Moserle, Lidia; Müller, Clemens R; Mundhenke, Christoph; Naldi, Nadia; Nathanson, Katherine L; Navarro, Matilde; Nevanlinna, Heli; Nichols, Cassandra B; Niederacher, Dieter; Nielsen, Henriette R; Ong, Kai-Ren; Pachter, Nicholas; Palmero, Edenir I; Papi, Laura; Pedersen, Inge Sokilde; Peissel, Bernard; Pérez-Segura, Pedro; Pfeifer, Katharina; Pineda, Marta; Pohl-Rescigno, Esther; Poplawski, Nicola K; Porfirio, Berardino; Quante, Anne S; Ramser, Juliane; Reis, Rui M; Revillion, Françoise; Rhiem, Kerstin; Riboli, Barbara; Ritter, Julia; Rivera, Daniela; Rofes, Paula; Rump, Andreas; Salinas, Monica; Sánchez de Abajo, Ana María; Schmidt, Gunnar; Schoenwiese, Ulrike; Seggewiß, Jochen; Solanes, Ares; Steinemann, Doris; Stiller, Mathias; Stoppa-Lyonnet, Dominique; Sullivan, Kelly J; Susman, Rachel; Sutter, Christian; Tavtigian, Sean V; Teo, Soo H; Teulé, Alex; Thomassen, Mads; Tibiletti, Maria Grazia; Tognazzo, Silvia; Toland, Amanda E; Tornero, Eva; Törngren, Therese; Torres-Esquius, Sara; Toss, Angela; Trainer, Alison H; van Asperen, Christi J; van Mackelenbergh, Marion T; Varesco, Liliana; Vargas-Parra, Gardenia; Varon, Raymonda; Vega, Ana; Velasco, Ángela; Vesper, Anne-Sophie; Viel, Alessandra; Vreeswijk, Maaike P G; Wagner, Sebastian A; Waha, Anke; Walker, Logan C; Walters, Rhiannon J; Wang-Gohrke, Shan; Weber, Bernhard H F; Weichert, Wilko; Wieland, Kerstin; Wiesmüller, Lisa; Witzel, Isabell; Wöckel, Achim; Woodward, Emma R; Zachariae, Silke; Zampiga, Valentina; Zeder-Göß, Christine; Lázaro, Conxi; De Nicolo, Arcangela; Radice, Paolo; Engel, Christoph; Schmutzler, Rita K; Goldgar, David E; Spurdle, Amanda B
Long QTc in hypertrophic cardiomyopathy. A consequence of structural myocardial damage or a distinct genetic disease?
2023 Cava, Francesco; Micolonghi, Caterina; Musumeci, Maria Beatrice; Petrucci, Simona; Savio, Camilla; Fabiani, Marco; Tini, Giacomo; Germani, Aldo; Libi, Fabio; Rossi, Carla; Visco, Vincenzo; Pizzuti, Antonio; Volpe, Massimo; Autore, Camillo; Rubattu, Speranza; Piane, Maria
Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38
2015 Grossi, Valentina; Lucarelli, Giuseppe; Forte, Giovanna; Peserico, Alessia; Matrone, Antonio; Germani, Aldo; Rutigliano, Monica; Stella, Alessandro; Bagnulo, Rosanna; Loconte, Daria; Galleggiante, Vanessa; Sanguedolce, Francesca; Cagiano, Simona; Bufo, Pantaleo; Trabucco, Senia; Maiorano, Eugenio; Ditonno, Pasquale; Battaglia, Michele; Resta, Nicoletta; Simone, Cristiano
Molecular and functional characterization of three different postzygotic mutations in PIK3CA-related overgrowth spectrum (PROS) patients: effects on PI3K/AKT/mTOR signaling and sensitivity to PIK3 inhibitors
2015 Loconte, Daria C.; Grossi, Valentina; Bozzao, Cristina; Forte, Giovanna; Bagnulo, Rosanna; Stella, Alessandro; Lastella, Patrizia; Cutrone, Mario; Benedicenti, Francesco; Susca, Francesco C.; Patruno, Margherita; Varvara, Dora; Germani, Aldo; Chessa, Luciana; Laforgia, Nicola; Tenconi, Romano; Simone, Cristiano; Resta, Nicoletta
Nano-mechanical characterization of ataxia telangiectasia cells treated with dexamethasone
2017 Menotta, Michele; Biagiotti, Sara; Bartolini, Giulia; Bianchi, Marzia; Orazi, Sara; Germani, Aldo; Chessa, Luciana; Magnani, Mauro
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders
2016 Piane, Maria; Molinaro, Anna; Soresina, Annarosa; Costa, Silvia; Maffeis, Marianna; Germani, Aldo; Pinelli, Lorenzo; Meschini, Roberta; Plebani, Alessandro; Chessa, Luciana; Micheli, Roberto
Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline
2018 Germani, A; Libi, F; Maggi, S; Stanzani., G; Lombardi, A; Pellegrini, P; Mattei, M; De Marchis, L; Amanti, C; Pizzuti, A; Torrisi, Mr; Piane, M
Re-analysis of Next-generation Sequencing Data in Patients with Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort
2024 Caroselli, Silvia; Fabiani, Marco; Micolonghi, Caterina; Savio, Camilla; Tini, Giacomo; Musumeci, Beatrice; Pagannone, Erika; Germani, Aldo; Libi, Fabio; Visco, Vincenzo; Pizzuti, Antonio; Autore, Camillo; Petrucci, Simona; Rubattu, Speranza; Piane, Maria
Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing
2020 Magri', Damiano; Mastromarino, Vittoria; Gallo, Giovanna; Zachara, Elisabetta; Re, Federica; Agostoni, Piergiuseppe; Giordano, Dario; Rubattu, Speranza Donatella; Forte, Maurizio; Cotugno, Enrico Maria; Torrisi, Maria Rosaria; Petrucci, Simona; Germani, Aldo; Savio, Camilla; Maruotti, Antonello; Volpe, Massimo; Autore, Camillo; Piane, Maria; Musumeci, Maria Beatrice
Rna sequencing of primary cutaneous and breast-implant associated anaplastic large cell lymphomas reveals infrequent fusion transcripts and upregulation of PI3K/AKT signaling via neurotrophin pathway genes
2021 Di Napoli, A.; Vacca, D.; Bertolazzi, G.; Lopez, G.; Piane, M.; Germani, A.; Rogges, E.; Pepe, G.; Di Pompeo, F. S.; Salgarello, M.; Jobanputra, V.; Hsiao, S.; Wrzeszczynski, K. O.; Berti, E.; Bhagat, G.
Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM, MRE11A, RAD50, NBN, and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy
2022 Montori, Andrea; Germani, Aldo; Ferri, Mario; Milano, Annalisa; Valentina Ranalli, Teresa; Piane, Maria; Pilozzi, Emanuela
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome | 2022 | Micolonghi, Caterina; Piane, Maria; Germani, Aldo; Sadeghi, Soha; Libi, Fabio; Savio, Camilla; Fabiani, Marco; Mancini, Rita; Ranieri, Danilo; Pizzuti, Antonio; Corleto, Vito Domenico; Parisi, Pasquale; Visco, Vincenzo; Di Nardo, Giovanni; Petrucci, Simona | |
| A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort | 2016 | Rubattu, Speranza; Bozzao, Cristina; Pennacchini, Ermelinda; Pagannone, Erika; Musumeci, Maria Beatrice; Piane, Maria; Germani, Aldo; Savio, Camilla; Francia, Pietro; Volpe, Massimo; Autore, Camillo; Chessa, Luciana | |
| A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy | 2023 | Micolonghi, Caterina; Fabiani, Marco; Pagannone, Erika; Savio, Camilla; Ricci, Marta; Caroselli, Silvia; Gambioli, Vittoria; Musumeci, Maria Beatrice; Germani, Aldo; TINI MELATO, Giacomo; Autore, Camillo; Pizzuti, Antonio; Visco, Vincenzo; Rubattu, Speranza Donatella; Petrucci, Simona; Piane, Maria | |
| A SMYD3 small-molecule Inhibitor impairing cancer cell growth | 2015 | Peserico, Alessia; Germani, Aldo; Sanese, Paola; Barbosa, Armenio Jorge; Di Virgilio, Valeria; Fittipaldi, Raffaella; Fabini, Edoardo; Bertucci, Carlo; Varchi, Greta; Moyer, Mary Pat; Caretti, Giuseppina; Del Rio, Alberto; Simone, Cristiano | |
| Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers | 2020 | Germani, Aldo; Petrucci, Simona; De Marchis, Laura; Libi, Fabio; Savio, Camilla; Amanti, Claudio; Bonifacino, Adriana; Campanella, Barbara; Capalbo, Carlo; Lombardi, Augusto; Maggi, Stefano; Mattei, Mauro; Osti, Mattia Falchetto; Pellegrini, Patrizia; Speranza, Annarita; Stanzani, Gianluca; Vitale, Valeria; Pizzuti, Antonio; Torrisi, Maria Rosaria; Piane, Maria | |
| Blocking p38/ERK crosstalk affects colorectal cancer growth by inducing apoptosis in vitro and in preclinical mouse models | 2012 | Chiacchiera, Fulvio; Grossi, Valentina; Cappellari, Marianna; Peserico, Alessia; Simonatto, Marta; Germani, Aldo; Russo, Silvana; Moyer, Mary P.; Resta, Nicoletta; Murzilli, Stefania; Simone, Cristiano | |
| From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways | 2022 | Bianco, Lavinia; Raffa, Salvatore; Fornelli, Paolo; Mancini, Rita; Gabriele, Angela; Medici, Francesco; Battista, Claudia; Greco, Stefania; Croce, Giuseppe; Germani, Aldo; Petrucci, Simona; Anibaldi, Paolo; Bianco, Valerio; Ronchetti, Mario; Banchieri, Giorgio; Napoli, Christian; Piane, Maria | |
| Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer | 2022 | Germani, Aldo; Guadagnolo, Daniele; Salvati, Valentina; Micolonghi, Caterina; Mancini, Rita; Mastromoro, Gioia; Sadeghi, Soha; Petrucci, Simona; Pizzuti, Antonio; Piane, Maria | |
| Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility | 2023 | Guadagnolo, Daniele; Mastromoro, Gioia; Marchionni, Enrica; Germani, Aldo; Libi, Fabio; Sadeghi, Soha; Savio, Camilla; Petrucci, Simona; De Marchis, Laura; Piane, Maria; Pizzuti, Antonio | |
| Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants. An ENIGMA resource to support clinical variant classification | 2019 | Parsons, Michael T; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso-Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbieri, Elena; Bartram, Claus R; Blanco, Ana; Blümcke, Britta; Bonache, Sandra; Bonanni, Bernardo; Borg, Åke; Bortesi, Beatrice; Brunet, Joan; Bruzzone, Carla; Bucksch, Karolin; Cagnoli, Giulia; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria A; Calvello, Mariarosaria; Capone, Gabriele L; Caputo, Sandrine M; Carnevali, Ileana; Carrasco, Estela; Caux-Moncoutier, Virginie; Cavalli, Pietro; Cini, Giulia; Clarke, Edward M; Concolino, Paola; Cops, Elisa J; Cortesi, Laura; Couch, Fergus J; Darder, Esther; de la Hoya, Miguel; Dean, Michael; Debatin, Irmgard; Del Valle, Jesús; Delnatte, Capucine; Derive, Nicolas; Diez, Orland; Ditsch, Nina; Domchek, Susan M; Dutrannoy, Véronique; Eccles, Diana M; Ehrencrona, Hans; Enders, Ute; Evans, D Gareth; Faust, Ulrike; Felbor, Ute; Feroce, Irene; Fine, Miriam; Galvao, Henrique C R; Gambino, Gaetana; Gehrig, Andrea; Gensini, Francesca; Gerdes, Anne-Marie; Germani, Aldo; Giesecke, Jutta; Gismondi, Viviana; Gómez, Carolina; Gómez Garcia, Encarna B; González, Sara; Grau, Elia; Grill, Sabine; Gross, Eva; Guerrieri-Gonzaga, Aliana; Guillaud-Bataille, Marine; Gutiérrez-Enríquez, Sara; Haaf, Thomas; Hackmann, Karl; Hansen, Thomas V O; Harris, Marion; Hauke, Jan; Heinrich, Tilman; Hellebrand, Heide; Herold, Karen N; Honisch, Ellen; Horvath, Judit; Houdayer, Claude; Hübbel, Verena; Iglesias, Silvia; Izquierdo, Angel; James, Paul A; Janssen, Linda A M; Jeschke, Udo; Kaulfuß, Silke; Keupp, Katharina; Kiechle, Marion; Kölbl, Alexandra; Krieger, Sophie; Kruse, Torben A; Kvist, Anders; Lalloo, Fiona; Larsen, Mirjam; Lattimore, Vanessa L; Lautrup, Charlotte; Ledig, Susanne; Leinert, Elena; Lewis, Alexandra L; Lim, Joanna; Loeffler, Markus; López-Fernández, Adrià; Lucci-Cordisco, Emanuela; Maass, Nicolai; Manoukian, Siranoush; Marabelli, Monica; Matricardi, Laura; Meindl, Alfons; Michelli, Rodrigo D; Moghadasi, Setareh; Moles-Fernández, Alejandro; Montagna, Marco; Montalban, Gemma; Monteiro, Alvaro N; Montes, Eva; Mori, Luigi; Moserle, Lidia; Müller, Clemens R; Mundhenke, Christoph; Naldi, Nadia; Nathanson, Katherine L; Navarro, Matilde; Nevanlinna, Heli; Nichols, Cassandra B; Niederacher, Dieter; Nielsen, Henriette R; Ong, Kai-Ren; Pachter, Nicholas; Palmero, Edenir I; Papi, Laura; Pedersen, Inge Sokilde; Peissel, Bernard; Pérez-Segura, Pedro; Pfeifer, Katharina; Pineda, Marta; Pohl-Rescigno, Esther; Poplawski, Nicola K; Porfirio, Berardino; Quante, Anne S; Ramser, Juliane; Reis, Rui M; Revillion, Françoise; Rhiem, Kerstin; Riboli, Barbara; Ritter, Julia; Rivera, Daniela; Rofes, Paula; Rump, Andreas; Salinas, Monica; Sánchez de Abajo, Ana María; Schmidt, Gunnar; Schoenwiese, Ulrike; Seggewiß, Jochen; Solanes, Ares; Steinemann, Doris; Stiller, Mathias; Stoppa-Lyonnet, Dominique; Sullivan, Kelly J; Susman, Rachel; Sutter, Christian; Tavtigian, Sean V; Teo, Soo H; Teulé, Alex; Thomassen, Mads; Tibiletti, Maria Grazia; Tognazzo, Silvia; Toland, Amanda E; Tornero, Eva; Törngren, Therese; Torres-Esquius, Sara; Toss, Angela; Trainer, Alison H; van Asperen, Christi J; van Mackelenbergh, Marion T; Varesco, Liliana; Vargas-Parra, Gardenia; Varon, Raymonda; Vega, Ana; Velasco, Ángela; Vesper, Anne-Sophie; Viel, Alessandra; Vreeswijk, Maaike P G; Wagner, Sebastian A; Waha, Anke; Walker, Logan C; Walters, Rhiannon J; Wang-Gohrke, Shan; Weber, Bernhard H F; Weichert, Wilko; Wieland, Kerstin; Wiesmüller, Lisa; Witzel, Isabell; Wöckel, Achim; Woodward, Emma R; Zachariae, Silke; Zampiga, Valentina; Zeder-Göß, Christine; Lázaro, Conxi; De Nicolo, Arcangela; Radice, Paolo; Engel, Christoph; Schmutzler, Rita K; Goldgar, David E; Spurdle, Amanda B | |
| Long QTc in hypertrophic cardiomyopathy. A consequence of structural myocardial damage or a distinct genetic disease? | 2023 | Cava, Francesco; Micolonghi, Caterina; Musumeci, Maria Beatrice; Petrucci, Simona; Savio, Camilla; Fabiani, Marco; Tini, Giacomo; Germani, Aldo; Libi, Fabio; Rossi, Carla; Visco, Vincenzo; Pizzuti, Antonio; Volpe, Massimo; Autore, Camillo; Rubattu, Speranza; Piane, Maria | |
| Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38 | 2015 | Grossi, Valentina; Lucarelli, Giuseppe; Forte, Giovanna; Peserico, Alessia; Matrone, Antonio; Germani, Aldo; Rutigliano, Monica; Stella, Alessandro; Bagnulo, Rosanna; Loconte, Daria; Galleggiante, Vanessa; Sanguedolce, Francesca; Cagiano, Simona; Bufo, Pantaleo; Trabucco, Senia; Maiorano, Eugenio; Ditonno, Pasquale; Battaglia, Michele; Resta, Nicoletta; Simone, Cristiano | |
| Molecular and functional characterization of three different postzygotic mutations in PIK3CA-related overgrowth spectrum (PROS) patients: effects on PI3K/AKT/mTOR signaling and sensitivity to PIK3 inhibitors | 2015 | Loconte, Daria C.; Grossi, Valentina; Bozzao, Cristina; Forte, Giovanna; Bagnulo, Rosanna; Stella, Alessandro; Lastella, Patrizia; Cutrone, Mario; Benedicenti, Francesco; Susca, Francesco C.; Patruno, Margherita; Varvara, Dora; Germani, Aldo; Chessa, Luciana; Laforgia, Nicola; Tenconi, Romano; Simone, Cristiano; Resta, Nicoletta | |
| Nano-mechanical characterization of ataxia telangiectasia cells treated with dexamethasone | 2017 | Menotta, Michele; Biagiotti, Sara; Bartolini, Giulia; Bianchi, Marzia; Orazi, Sara; Germani, Aldo; Chessa, Luciana; Magnani, Mauro | |
| Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders | 2016 | Piane, Maria; Molinaro, Anna; Soresina, Annarosa; Costa, Silvia; Maffeis, Marianna; Germani, Aldo; Pinelli, Lorenzo; Meschini, Roberta; Plebani, Alessandro; Chessa, Luciana; Micheli, Roberto | |
| Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline | 2018 | Germani, A; Libi, F; Maggi, S; Stanzani., G; Lombardi, A; Pellegrini, P; Mattei, M; De Marchis, L; Amanti, C; Pizzuti, A; Torrisi, Mr; Piane, M | |
| Re-analysis of Next-generation Sequencing Data in Patients with Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort | 2024 | Caroselli, Silvia; Fabiani, Marco; Micolonghi, Caterina; Savio, Camilla; Tini, Giacomo; Musumeci, Beatrice; Pagannone, Erika; Germani, Aldo; Libi, Fabio; Visco, Vincenzo; Pizzuti, Antonio; Autore, Camillo; Petrucci, Simona; Rubattu, Speranza; Piane, Maria | |
| Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing | 2020 | Magri', Damiano; Mastromarino, Vittoria; Gallo, Giovanna; Zachara, Elisabetta; Re, Federica; Agostoni, Piergiuseppe; Giordano, Dario; Rubattu, Speranza Donatella; Forte, Maurizio; Cotugno, Enrico Maria; Torrisi, Maria Rosaria; Petrucci, Simona; Germani, Aldo; Savio, Camilla; Maruotti, Antonello; Volpe, Massimo; Autore, Camillo; Piane, Maria; Musumeci, Maria Beatrice | |
| Rna sequencing of primary cutaneous and breast-implant associated anaplastic large cell lymphomas reveals infrequent fusion transcripts and upregulation of PI3K/AKT signaling via neurotrophin pathway genes | 2021 | Di Napoli, A.; Vacca, D.; Bertolazzi, G.; Lopez, G.; Piane, M.; Germani, A.; Rogges, E.; Pepe, G.; Di Pompeo, F. S.; Salgarello, M.; Jobanputra, V.; Hsiao, S.; Wrzeszczynski, K. O.; Berti, E.; Bhagat, G. | |
| Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM, MRE11A, RAD50, NBN, and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy | 2022 | Montori, Andrea; Germani, Aldo; Ferri, Mario; Milano, Annalisa; Valentina Ranalli, Teresa; Piane, Maria; Pilozzi, Emanuela |