Sfoglia per Rivista HGG ADVANCES
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
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
2024-01-01 van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Trajkova, Slavica; Huisman, Sylvia A; Bijlsma, Emilia K; Kleefstra, Tjitske; van Bon, Bregje W; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W; van Hagen, Johanna M; Plomp, Astrid S; Mannens, Marcel M A M; Alders, Mariëlle; van Haelst, Mieke M; Ferrero, Giovanni B; Brusco, Alfredo; Henneman, Peter; Sweetser, David A; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
2022-01-01 Falzarano M.S.; Grilli A.; Zia S.; Fang M.; Rossi R.; Gualandi F.; Rimessi P.; El Dani R.; Fabris M.; Lu Z.; Li W.; Mongini T.; Ricci F.; Pegoraro E.; Bello L.; Barp A.; Sansone V.A.; Hegde M.; Roda B.; Reschiglian P.; Bicciato S.; Selvatici R.; Ferlini A.
| 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 | |
| DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants | 2024 | van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Trajkova, Slavica; Huisman, Sylvia A; Bijlsma, Emilia K; Kleefstra, Tjitske; van Bon, Bregje W; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W; van Hagen, Johanna M; Plomp, Astrid S; Mannens, Marcel M A M; Alders, Mariëlle; van Haelst, Mieke M; Ferrero, Giovanni B; Brusco, Alfredo; Henneman, Peter; Sweetser, David A; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A | |
| RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing | 2022 | Falzarano M.S.; Grilli A.; Zia S.; Fang M.; Rossi R.; Gualandi F.; Rimessi P.; El Dani R.; Fabris M.; Lu Z.; Li W.; Mongini T.; Ricci F.; Pegoraro E.; Bello L.; Barp A.; Sansone V.A.; Hegde M.; Roda B.; Reschiglian P.; Bicciato S.; Selvatici R.; Ferlini A. |
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