PALERMO, Flavia
PALERMO, Flavia
SCIENZE MEDICHE
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
2024-01-01 Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
2024-01-01 Elkhateeb, Nour; Crookes, Renarta; Spiller, Michael; Pavinato, Lisa; Palermo, Flavia; Brusco, Alfredo; Parker, Michael; Park, Soo-Mi; Mendes, Ariana Costa; Saraiva, Jorge M; Hammer, Trine Bjørg; Nazaryan-Petersen, Lusine; Barakat, Tahsin Stefan; Wilke, Martina; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca C; Li, Dong; Nomakuchi, Tomoki; Brilstra, Eva H; Hunt, David; Johnson, Diana; Mansour, Sahar; Oprych, Kathryn; Mehta, Sarju G; Platzer, Konrad; Schnabel, Franziska; Kiep, Henriette; Faust, Helene; Prinzing, Gillian; Wiltrout, Kimberly; Radley, Jessica A; Serrano Russi, Alvaro H; Atallah, Isis; Campos-Xavier, Belinda; Amor, David J; Morgan, Angela T; Fagerberg, Christina; Andersen, Ulla A; Andersen, Charlotte B; Bijlsma, Emilia K; Bird, Lynne M; Mullegama, Sureni V; Green, Andrew; Isidor, Bertrand; Cogné, Benjamin; Kenny, Janna; Lynch, Sally A; Quin, Shauna; Low, Karen; Herget, Theresia; Kortüm, Fanny; Levy, Rebecca J; Morrison, Jennifer L; Wheeler, Patricia G; Narumanch, TaraChandra; Peron, Kristina; Matthews, Nicole; Uhlman, Jillian; Bell, Lauren; Pang, Lewis; Scurr, Ingrid; Belles, Rebecca S; Salbert, Bonnie Anne; Schaefer, Gerald Bradley; Green, Sarah; Ros, Andrea; Rodríguez-Palmero, Agustí; Višnjar, Tanja; Writzl, Karin; Vasudevan, Pradeep C; Balasubramanian, Meena
Germline NGS targeted analysis in adult patients with sporadic adrenocortical carcinoma.
2024-01-01 Maria Scatolini, Salvatore Grisanti, Pasquale Tomaiuolo, Enrico Grosso, Vittoria Basile, Deborah Cosentini, Soraya Puglisi, Marta Laganà, Paola Perotti, Laura Saba, Elisa Rossini, Flavia Palermo, Sandra Sigala, Marco Volante, Alfredo Berruti, Massimo Terzolo
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
2023-01-01 Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity | 2024 | Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo | |
| Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder | 2024 | Elkhateeb, Nour; Crookes, Renarta; Spiller, Michael; Pavinato, Lisa; Palermo, Flavia; Brusco, Alfredo; Parker, Michael; Park, Soo-Mi; Mendes, Ariana Costa; Saraiva, Jorge M; Hammer, Trine Bjørg; Nazaryan-Petersen, Lusine; Barakat, Tahsin Stefan; Wilke, Martina; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca C; Li, Dong; Nomakuchi, Tomoki; Brilstra, Eva H; Hunt, David; Johnson, Diana; Mansour, Sahar; Oprych, Kathryn; Mehta, Sarju G; Platzer, Konrad; Schnabel, Franziska; Kiep, Henriette; Faust, Helene; Prinzing, Gillian; Wiltrout, Kimberly; Radley, Jessica A; Serrano Russi, Alvaro H; Atallah, Isis; Campos-Xavier, Belinda; Amor, David J; Morgan, Angela T; Fagerberg, Christina; Andersen, Ulla A; Andersen, Charlotte B; Bijlsma, Emilia K; Bird, Lynne M; Mullegama, Sureni V; Green, Andrew; Isidor, Bertrand; Cogné, Benjamin; Kenny, Janna; Lynch, Sally A; Quin, Shauna; Low, Karen; Herget, Theresia; Kortüm, Fanny; Levy, Rebecca J; Morrison, Jennifer L; Wheeler, Patricia G; Narumanch, TaraChandra; Peron, Kristina; Matthews, Nicole; Uhlman, Jillian; Bell, Lauren; Pang, Lewis; Scurr, Ingrid; Belles, Rebecca S; Salbert, Bonnie Anne; Schaefer, Gerald Bradley; Green, Sarah; Ros, Andrea; Rodríguez-Palmero, Agustí; Višnjar, Tanja; Writzl, Karin; Vasudevan, Pradeep C; Balasubramanian, Meena | |
| Germline NGS targeted analysis in adult patients with sporadic adrenocortical carcinoma. | 2024 | Maria Scatolini, Salvatore Grisanti, Pasquale Tomaiuolo, Enrico Grosso, Vittoria Basile, Deborah Cosentini, Soraya Puglisi, Marta Laganà, Paola Perotti, Laura Saba, Elisa Rossini, Flavia Palermo, Sandra Sigala, Marco Volante, Alfredo Berruti, Massimo Terzolo | |
| Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes | 2023 | Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo |