GERVASINI, CRISTINA
GERVASINI, CRISTINA
DIPARTIMENTO DI MEDICINA MOLECOLARE E BIOTECNOLOGIE MEDICHE
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
2022 Foroutan, A.; Haghshenas, S.; Bhai, P.; Levy, M. A.; Kerkhof, J.; Mcconkey, H.; Niceta, M.; Ciolfi, A.; Pedace, L.; Miele, E.; Genevieve, D.; Heide, S.; Alders, M.; Zampino, G.; Merla, G.; Fradin, M.; Bieth, E.; Bonneau, D.; Dieterich, K.; Fergelot, P.; Schaefer, E.; Faivre, L.; Vitobello, A.; Maitz, S.; Fischetto, R.; Gervasini, C.; Piccione, M.; van de Laar, I.; Tartaglia, M.; Sadikovic, B.; Lebre, A. -S.
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
2022 Kerkhof, J.; Squeo, G. M.; Mcconkey, H.; Levy, M. A.; Piemontese, M. R.; Castori, M.; Accadia, M.; Biamino, E.; Della Monica, M.; Di Giacomo, M. C.; Gervasini, C.; Maitz, S.; Melis, D.; Milani, D.; Piccione, M.; Prontera, P.; Selicorni, A.; Sadikovic, B.; Merla, G.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
2022 Levy, Michael A; Relator, Raissa; Mcconkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, María Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; Dupont, Barbara R; Elting, Mariet W; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S; Cherick, Florian; Foroutan, Aidin; Friez, Michael J; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J; Maitz, Silvia; Milani, Donatella; Morgan, Angela T; Oegema, Renske; Østergaard, Elsebet; Pallares, Nathalie Ruiz; Piccione, Maria; Plomp, Astrid S; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W E; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella Maria; John, Miya St; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J; Vergano, Samantha A; Vos, Niels; Walden, Kellie K; Azmanov, Dimitar; Balci, Tugce B; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A; Mannens, Marcel M A M; Roscioli, Tony; Siu, Victoria; Amor, David J; Baynam, Gareth; Bend, Eric G; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A; Fleming, Mark D; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D; Mcneill, Alisdair; Menke, Leonie A; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A; Stevenson, Roger E; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L; Sadikovic, Bekim
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
2021 Di Fede, E.; Massa, V.; Augello, B.; Squeo, G.; Scarano, E.; Perri, A. M.; Fischetto, R.; Causio, F. A.; Zampino, G.; Piccione, M.; Curridori, E.; Mazza, T.; Castellana, S.; Larizza, L.; Ghelma, F.; Colombo, E. A.; Gandini, M. C.; Castori, M.; Merla, G.; Milani, D.; Gervasini, C.
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome | 1.1 Articolo in rivista | 2022 | Foroutan, A.; Haghshenas, S.; Bhai, P.; Levy, M. A.; Kerkhof, J.; Mcconkey, H.; Niceta, M.; Ciolfi, A.; Pedace, L.; Miele, E.; Genevieve, D.; Heide, S.; Alders, M.; Zampino, G.; Merla, G.; Fradin, M.; Bieth, E.; Bonneau, D.; Dieterich, K.; Fergelot, P.; Schaefer, E.; Faivre, L.; Vitobello, A.; Maitz, S.; Fischetto, R.; Gervasini, C.; Piccione, M.; van de Laar, I.; Tartaglia, M.; Sadikovic, B.; Lebre, A. -S. | |
| DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies | 1.1 Articolo in rivista | 2022 | Kerkhof, J.; Squeo, G. M.; Mcconkey, H.; Levy, M. A.; Piemontese, M. R.; Castori, M.; Accadia, M.; Biamino, E.; Della Monica, M.; Di Giacomo, M. C.; Gervasini, C.; Maitz, S.; Melis, D.; Milani, D.; Piccione, M.; Prontera, P.; Selicorni, A.; Sadikovic, B.; Merla, G. | |
| Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders | 1.1 Articolo in rivista | 2022 | Levy, Michael A; Relator, Raissa; Mcconkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, María Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; Dupont, Barbara R; Elting, Mariet W; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S; Cherick, Florian; Foroutan, Aidin; Friez, Michael J; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J; Maitz, Silvia; Milani, Donatella; Morgan, Angela T; Oegema, Renske; Østergaard, Elsebet; Pallares, Nathalie Ruiz; Piccione, Maria; Plomp, Astrid S; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W E; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella Maria; John, Miya St; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J; Vergano, Samantha A; Vos, Niels; Walden, Kellie K; Azmanov, Dimitar; Balci, Tugce B; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A; Mannens, Marcel M A M; Roscioli, Tony; Siu, Victoria; Amor, David J; Baynam, Gareth; Bend, Eric G; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A; Fleming, Mark D; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D; Mcneill, Alisdair; Menke, Leonie A; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A; Stevenson, Roger E; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L; Sadikovic, Bekim | |
| Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes | 1.1 Articolo in rivista | 2021 | Di Fede, E.; Massa, V.; Augello, B.; Squeo, G.; Scarano, E.; Perri, A. M.; Fischetto, R.; Causio, F. A.; Zampino, G.; Piccione, M.; Curridori, E.; Mazza, T.; Castellana, S.; Larizza, L.; Ghelma, F.; Colombo, E. A.; Gandini, M. C.; Castori, M.; Merla, G.; Milani, D.; Gervasini, C. |