Trajkova, Slavica
Trajkova, Slavica
A potential dual CAPRIN1/HDAC8 neurodevelopmental disorder case: the importance of periodic ES re-analysis
2024-01-01 S. Cardaropoli, V.G. Naretto, S. Trajkova, V. Rallo, M. Massidda, L. Pavinato, V. Pullano, S. Rizzo, F. Pintus, C. Leso, A. Aulino, M. Iacomino, P. Uva, A. Mussa, B. Pasini, F. Zara, A. Puliti, A. Angius, G.B. Ferrero, A. Brusco
Contribution of autosomal rare and de novo variants to sex differences in autism
2025-01-01 Koko, Mahmoud; Satterstrom, F Kyle; Branko Aleksic, Mykyta Artomov, Mafalda Barbosa, Elisa Benetti, Catalina Betancur, Monica Biscaldi-Schafer, Anders D. Børglum, Harrison Brand, Alfredo Brusco, Joseph D. Buxbaum, Gabriele Campos, Simona Cardaropoli, Diana Carli, Angel Carracedo, Marcus C.Y. Chan, Andreas G. Chiocchetti, Brian H.Y. Chung, Brett Collins, Ryan L. Collins, Edwin H. Cook, Hilary Coon, Claudia I.S. Costa, Michael L. Cuccaro, David J. Cutler, Mark J. Daly, Silvia De Rubeis, Bernie Devlin, Ryan N. Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Montserrat Fernández-Prieto, Giovanni Battista Ferrero, Christine M. Freitag, Jack M. Fu, J. Jay Gargus, Sherif Gerges, Elisa Giorgio, Ana Cristina Girardi, Stephen Guter, Emily Hansen-Kiss, Gail E. Herman, Irva Hertz-Picciotto, David M. Hougaard, Christina M. Hultman, Suma Jacob, Miia Kaartinen, Lambertus Klei, Alexander Kolevzon, Itaru Kushima, So Lun Lee, Terho Lehtimäki, Lindsay Liang, Carla Lintas, Alicia Ljungdahl, Caterina Lo Rizzo, Yunin Ludena, Patricia Maciel, Behrang Mahjani, Nell Maltman, Marianna Manara, Dara S. Manoach, Gal Meiri, Idan Menashe, Judith Miller, Nancy Minshew, Matthew Mosconi, Rachel Nguyen, Norio Ozaki, Aarno Palotie, Mara Parellada, Maria Rita Passos-Bueno, Lisa Pavinato, Minshi Peng, Margaret Pericak-Vance, Antonio M. Persico, Isaac N. Pessah, Kaija Puura, Abraham Reichenberg, Alessandra Renieri, Kathryn Roeder, Stephan J. Sanders, Sven Sandin, F. Kyle Satterstrom, Stephen W. Scherer, Sabine Schlitt, Rebecca J. Schmidt, Lauren Schmitt, Katja Schneider-Momm, Paige M. Siper, Laura Sloofman, Moyra Smith, Christine R. Stevens, Pål Suren, James S. Sutcliffe, John A. Sweeney, Michael E. Talkowski, Flora Tassone, Karoline Teufel, Elisabetta Trabetti, Slavica Trajkova, Maria del Pilar Trelles, Brie Wamsley, Jaqueline Y.T. Wang, Lauren A. Weiss, Mullin H.C. Yu, Ryan YuenWarrier, Varun; Martin, Hilary
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective
2025-01-01 van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Mariëlle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M; DuPont, Barbara R; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G; Polstra, Abeltje M; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M; van der Kevie-Kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade
2026-01-01 Cardaropoli, Simona; Pavinato, Lisa; Trajkova, Slavica; Carli, Diana; Pullano, Verdiana; Palermo, Flavia; Mussa, Alessandro; Biamino, Elisa; Antona, Vincenzo; Zonta, Andrea; Dimartino, Paola; Zadorozhna, Mariia; Bruselles, Alessandro; Keller, Roberto; Pasini, Barbara; Grosso, Enrico; Mandrile, Giorgia; Buxbaum, Joseph D; De Rubeis, Silvia; Pippucci, Tommaso; Tartaglia, Marco; Giorgio, Elisa; Brusco, Alfredo; Ferrero, Giovanni Battista
UBE2I mutations unveil the critical role of the SUMOylation pathway in syndromic autism
2024-01-01 Verdiana Pullano, Slavica Trajkova, Alessandra Aulino, Matteo Rossi Sebastiano, Elena Sukarova-Angelovska, Erika Ortolan, Henrike Sczakiel, Susan Hiatt, Anna C.E. Hurst, Benjamin Cogne, Isidor Bertrand, Karishma Bakshi, Andrea Pichler, Tommaso Pippucci, Paola Dimartino, Simona Cardaropoli, Roberto Piva, Enza Ferrero, Alessandro Mussa, Silvia De Rubeis, Joseph Buxbaum, Giovanni Battista Ferrero, Alfredo Brusco
UBE2I mutations unveil the critical role of the SUMOylation pathway in syndromic autism
2024-01-01 Verdiana Pullano, Slavica Trajkova, Alessandra Aulino, Matteo Rossi Sebastiano, Elena Sukarova-Angelovska, Erika Ortolan, Henrike Sczakiel, Susan Hiatt, Anna C.E. Hurst, Benjamin Cogne, Karishma Bakshi, Andrea Pichler, Tommaso Pippucci, Paola Dimartino, Simona Cardaropoli, Roberto Piva, Enza Ferrero, Alessandro Mussa, Silvia De Rubeis, Joseph Buxbaum, Giovanni Battista Ferrero, Alfredo Brusco
UBE2I: a promising candidate gene in syndromic neurodevelopmental disorders involved in sumoylation pathways
2024-01-01 Verdiana Pullano, Slavica Trajkova, Alessandra Aulino, Elena Sukarova-Angelovska, Henrike Sczakiel, Susan Hiatt, Anna C.E. Hurst, Benjamin Cogne, Karishma Bakshi, Andrea Pichler, Tommaso Pippucci, Paola Dimartino, Simona Cardaropoli, Alessandro Mussa, Silvia De Rubeis, Joseph Buxbaum, Giovanni Battista Ferrero, Alfredo Brusco
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A potential dual CAPRIN1/HDAC8 neurodevelopmental disorder case: the importance of periodic ES re-analysis | 2024 | S. Cardaropoli, V.G. Naretto, S. Trajkova, V. Rallo, M. Massidda, L. Pavinato, V. Pullano, S. Rizzo, F. Pintus, C. Leso, A. Aulino, M. Iacomino, P. Uva, A. Mussa, B. Pasini, F. Zara, A. Puliti, A. Angius, G.B. Ferrero, A. Brusco | |
| Contribution of autosomal rare and de novo variants to sex differences in autism | 2025 | Koko, Mahmoud; Satterstrom, F Kyle; Branko Aleksic, Mykyta Artomov, Mafalda Barbosa, Elisa Benetti, Catalina Betancur, Monica Biscaldi-Schafer, Anders D. Børglum, Harrison Brand, Alfredo Brusco, Joseph D. Buxbaum, Gabriele Campos, Simona Cardaropoli, Diana Carli, Angel Carracedo, Marcus C.Y. Chan, Andreas G. Chiocchetti, Brian H.Y. Chung, Brett Collins, Ryan L. Collins, Edwin H. Cook, Hilary Coon, Claudia I.S. Costa, Michael L. Cuccaro, David J. Cutler, Mark J. Daly, Silvia De Rubeis, Bernie Devlin, Ryan N. Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Montserrat Fernández-Prieto, Giovanni Battista Ferrero, Christine M. Freitag, Jack M. Fu, J. Jay Gargus, Sherif Gerges, Elisa Giorgio, Ana Cristina Girardi, Stephen Guter, Emily Hansen-Kiss, Gail E. Herman, Irva Hertz-Picciotto, David M. Hougaard, Christina M. Hultman, Suma Jacob, Miia Kaartinen, Lambertus Klei, Alexander Kolevzon, Itaru Kushima, So Lun Lee, Terho Lehtimäki, Lindsay Liang, Carla Lintas, Alicia Ljungdahl, Caterina Lo Rizzo, Yunin Ludena, Patricia Maciel, Behrang Mahjani, Nell Maltman, Marianna Manara, Dara S. Manoach, Gal Meiri, Idan Menashe, Judith Miller, Nancy Minshew, Matthew Mosconi, Rachel Nguyen, Norio Ozaki, Aarno Palotie, Mara Parellada, Maria Rita Passos-Bueno, Lisa Pavinato, Minshi Peng, Margaret Pericak-Vance, Antonio M. Persico, Isaac N. Pessah, Kaija Puura, Abraham Reichenberg, Alessandra Renieri, Kathryn Roeder, Stephan J. Sanders, Sven Sandin, F. Kyle Satterstrom, Stephen W. Scherer, Sabine Schlitt, Rebecca J. Schmidt, Lauren Schmitt, Katja Schneider-Momm, Paige M. Siper, Laura Sloofman, Moyra Smith, Christine R. Stevens, Pål Suren, James S. Sutcliffe, John A. Sweeney, Michael E. Talkowski, Flora Tassone, Karoline Teufel, Elisabetta Trabetti, Slavica Trajkova, Maria del Pilar Trelles, Brie Wamsley, Jaqueline Y.T. Wang, Lauren A. Weiss, Mullin H.C. Yu, Ryan YuenWarrier, Varun; Martin, Hilary | |
| DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective | 2025 | van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Mariëlle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M; DuPont, Barbara R; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G; Polstra, Abeltje M; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M; van der Kevie-Kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M | |
| The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade | 2026 | Cardaropoli, Simona; Pavinato, Lisa; Trajkova, Slavica; Carli, Diana; Pullano, Verdiana; Palermo, Flavia; Mussa, Alessandro; Biamino, Elisa; Antona, Vincenzo; Zonta, Andrea; Dimartino, Paola; Zadorozhna, Mariia; Bruselles, Alessandro; Keller, Roberto; Pasini, Barbara; Grosso, Enrico; Mandrile, Giorgia; Buxbaum, Joseph D; De Rubeis, Silvia; Pippucci, Tommaso; Tartaglia, Marco; Giorgio, Elisa; Brusco, Alfredo; Ferrero, Giovanni Battista | |
| UBE2I mutations unveil the critical role of the SUMOylation pathway in syndromic autism | 2024 | Verdiana Pullano, Slavica Trajkova, Alessandra Aulino, Matteo Rossi Sebastiano, Elena Sukarova-Angelovska, Erika Ortolan, Henrike Sczakiel, Susan Hiatt, Anna C.E. Hurst, Benjamin Cogne, Isidor Bertrand, Karishma Bakshi, Andrea Pichler, Tommaso Pippucci, Paola Dimartino, Simona Cardaropoli, Roberto Piva, Enza Ferrero, Alessandro Mussa, Silvia De Rubeis, Joseph Buxbaum, Giovanni Battista Ferrero, Alfredo Brusco | |
| UBE2I mutations unveil the critical role of the SUMOylation pathway in syndromic autism | 2024 | Verdiana Pullano, Slavica Trajkova, Alessandra Aulino, Matteo Rossi Sebastiano, Elena Sukarova-Angelovska, Erika Ortolan, Henrike Sczakiel, Susan Hiatt, Anna C.E. Hurst, Benjamin Cogne, Karishma Bakshi, Andrea Pichler, Tommaso Pippucci, Paola Dimartino, Simona Cardaropoli, Roberto Piva, Enza Ferrero, Alessandro Mussa, Silvia De Rubeis, Joseph Buxbaum, Giovanni Battista Ferrero, Alfredo Brusco | |
| UBE2I: a promising candidate gene in syndromic neurodevelopmental disorders involved in sumoylation pathways | 2024 | Verdiana Pullano, Slavica Trajkova, Alessandra Aulino, Elena Sukarova-Angelovska, Henrike Sczakiel, Susan Hiatt, Anna C.E. Hurst, Benjamin Cogne, Karishma Bakshi, Andrea Pichler, Tommaso Pippucci, Paola Dimartino, Simona Cardaropoli, Alessandro Mussa, Silvia De Rubeis, Joseph Buxbaum, Giovanni Battista Ferrero, Alfredo Brusco |