RIBERI, EVELISE
RIBERI, EVELISE
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity
2016-01-01 Biamino, Elisa; Di Gregorio, Eleonora; Belligni, Elga Fabia; Keller, Roberto; Riberi, Evelise; Gandione, Marina; Calcia, Alessandro; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Pappi, Patrizia; Talarico, Flavia; Fea, Antonio M; De Rubeis, Silvia; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Brusco, Alfredo
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol.
2016-01-01 Mussa, Alessandro; Molinatto, Cristina; Baldassarre, Giuseppina; Riberi, Evelise; Russo, Silvia; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes
2017-01-01 DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes
2017-01-01 Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoroso, Antonio; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients
2020-01-01 Pozzi E.; Giorgio E.; Mancini C.; Lo Buono N.; Augeri S.; Ferrero M.; Di Gregorio E.; Riberi E.; Vinciguerra M.; Nanetti L.; Bianchi F.T.; Sassi M.P.; Costanzo V.; Mariotti C.; Funaro A.; Cavalieri S.; Brusco A.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families
2023-01-01 Wojcik, Monica H; Srivastava, Siddharth; Agrawal, Pankaj B; Balci, Tugce B; Callewaert, Bert; Calvo, Pier Luigi; Carli, Diana; Caudle, Michelle; Colaiacovo, Samantha; Cross, Laura; Demetriou, Kalliope; Drazba, Katy; Dutra-Clarke, Marina; Edwards, Matthew; Genetti, Casie A; Grange, Dorothy K; Hickey, Scott E; Isidor, Bertrand; Küry, Sébastien; Lachman, Herbert M; Lavillaureix, Alinoe; Lyons, Michael J; Marcelis, Carlo; Marco, Elysa J; Martinez-Agosto, Julian A; Nowak, Catherine; Pizzol, Antonio; Planes, Marc; Prijoles, Eloise J; Riberi, Evelise; Rush, Eric T; Russell, Bianca E; Sachdev, Rani; Schmalz, Betsy; Shears, Deborah; Stevenson, David A; Wilson, Kate; Jansen, Sandra; de Vries, Bert B A; Curry, Cynthia J
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
2020-01-01 Satterstrom, F Kyle; Kosmicki, Jack A; Wang, Jiebiao; Breen, Michael S; De Rubeis, Silvia; An, Joon-Yong; Peng, Minshi; Collins, Ryan; Grove, Jakob; Klei, Lambertus; Stevens, Christine; Reichert, Jennifer; Mulhern, Maureen S; Artomov, Mykyta; Gerges, Sherif; Sheppard, Brooke; Xu, Xinyi; Bhaduri, Aparna; Norman, Utku; Brand, Harrison; Schwartz, Grace; Nguyen, Rachel; Guerrero, Elizabeth E; Dias, Caroline; Aleksic B; Anney R; Barbosa M; Bishop S; Brusco A; Bybjerg-Grauholm J; Carracedo A; Chan MCY; Chiocchetti AG; Chung BHY; Coon H; Cuccaro ML; Curró A; Dalla Bernardina B; Doan R; Domenici E; Dong S; Fallerini C; Fernández-Prieto M; Ferrero GB; Freitag CM; Fromer M; Gargus JJ; Geschwind D; Giorgio E; González-Peñas J; Guter S; Halpern D; Hansen-Kiss E; He X; Herman GE; Hertz-Picciotto I; Hougaard DM; Hultman CM; Ionita-Laza I; Jacob S; Jamison J; Jugessur A; Kaartinen M; Knudsen GP; Kolevzon A; Kushima I; Lee SL; Lehtimäki T; Lim ET; Lintas C; Lipkin WI; Lopergolo D; Lopes F; Ludena Y; Maciel P; Magnus P; Mahjani B; Maltman N; Manoach DS; Meiri G; Menashe I; Miller J; Minshew N; Montenegro EMS; Moreira D; Morrow EM; Mors O; Mortensen PB; Mosconi M; Muglia P; Neale BM; Nordentoft M; Ozaki N; Palotie A; Parellada M; Passos-Bueno MR; Pericak-Vance M; Persico AM; Pessah I; Puura K; Reichenberg A; Renieri A; Riberi E; Robinson EB; Samocha KE; Sandin S; Santangelo SL; Schellenberg G; Scherer SW; Schlitt S; Schmidt R; Schmitt L; Silva IMW; Singh T; Siper PM; Smith M; Soares G; Stoltenberg C; Suren P; Susser E; Sweeney J; Szatmari P; Tang L; Tassone F; Teufel K; Trabetti E; Trelles MDP; Walsh CA; Weiss LA; Werge T; Werling DM; Wigdor EM; Wilkinson E; Willsey AJ; Yu TW; Yu MHC; Yuen R; Zachi E; Agerbo E; Als TD; Appadurai V; Bækvad-Hansen M; Belliveau R; Buil A; Carey CE; Cerrato F; Chambert K; Churchhouse C; Dalsgaard S; Demontis D; Dumont A; Goldstein J; Hansen CS; Hauberg ME; Hollegaard MV; Howrigan DP; Huang H; Maller J; Martin AR; Martin J; Mattheisen M; Moran J; Pallesen J; Palmer DS; Pedersen CB; Pedersen MG; Poterba T; Poulsen JB; Ripke S; Schork AJ; Thompson WK; Turley P; Walters RK; Betancur, Catalina; Cook, Edwin H; Gallagher, Louise; Gill, Michael; Sutcliffe, James S; Thurm, Audrey; Zwick, Michael E; Børglum, Anders D; State, Matthew W; Cicek, A Ercument; Talkowski, Michael E; Cutler, David J; Devlin, Bernie; Sanders, Stephan J; Roeder, Kathryn; Daly, Mark J; Buxbaum, Joseph D
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
2019-01-01 Mancini, Cecilia; Hoxha, Eriola; Iommarini, Luisa; Brussino, Alessandro; Richter, Uwe; Montarolo, Francesca; Cagnoli, Claudia; Parolisi, Roberta; Gondor Morosini, Diana Iulia; Nicolò, Valentina; Maltecca, Francesca; Muratori, Luisa; Ronchi, Giulia; Geuna, Stefano; Arnaboldi, Francesca; Donetti, Elena; Giorgio, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Casari, Giorgio; Altruda, Fiorella; Turco, Emilia; Gasparre, Giuseppe; Battersby, Brendan J.; Porcelli, Anna Maria; Ferrero, Enza; Brusco, Alfredo; Tempia, Filippo
Mindreading abilities and borderline personality disorder: A comprehensive assessment using the Theory of Mind Assessment Scale
2019-01-01 Colle L.; Gabbatore I.; Riberi E.; Borroz E.; Bosco F.M.; Keller R.
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations
2019-01-01 Carli, Diana; Giorgio, Elisa; Pantaleoni, Francesca; Bruselles, Alessandro; Barresi, Sabina; Riberi, Evelise; Licciardi, Francesco; Gazzin, Andrea; Baldassarre, Giuseppina; Pizzi, Simone; Niceta, Marcello; Radio, Francesca Clementina; Molinatto, Cristina; Montin, Davide; Calvo, Pier Luigi; Ciolfi, Andrea; Fleischer, Nicole; Ferrero, Giovanni Battista; Brusco, Alfredo; Tartaglia, Marco
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy
2019-01-01 Mancini, Cecilia; Giorgio, Elisa; Rubegni, Anna; Pradotto, Luca; Bagnoli, Silvia; Rubino, Elisa; Prontera, Paolo; Cavalieri, Simona; Di Gregorio, Eleonora; Ferrero, Marta; Pozzi, Elisa; Riberi, Evelise; Ferrero, Patrizia; Nigro, Pasquale; Mauro, Alessandro; Zibetti, Maurizio; Tessa, Alessandra; Barghigiani, Melissa; Antenora, Antonella; Sirchia, Fabio; Piacentini, Silvia; Silvestri, Gabriella; De Michele, Giuseppe; Filla, Alessandro; Orsi, Laura; Santorelli, Filippo Maria; Brusco, Alfredo
Recessive gene disruptions in autism spectrum disorder
2019-01-01 Doan R.N.; Lim E.T.; De Rubeis S.; Betancur C.; Cutler D.J.; Chiocchetti A.G.; Overman L.M.; Soucy A.; Goetze S.; ASC consortium; Brusco A.; Curró A.; Fallerini C.; Lopergolo D.; Lintas C.; Domenici E.; Dalla Bernardina B.; Ferrero G.B.; Giorgio E.; Trabetti E.; Renieri A.; Riberi E.; Freitag C.M.; Daly M.J.; Walsh C.A.; Buxbaum J.D.; Yu T.W.
Syndromic Disorders Caused by Disturbed Human Imprinting
2019-01-01 Carli, Diana; Riberi, Evelise; Ferrero, Giovanni Battista; Mussa, Alessandro
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity | 2016 | Biamino, Elisa; Di Gregorio, Eleonora; Belligni, Elga Fabia; Keller, Roberto; Riberi, Evelise; Gandione, Marina; Calcia, Alessandro; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Pappi, Patrizia; Talarico, Flavia; Fea, Antonio M; De Rubeis, Silvia; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Brusco, Alfredo | |
| Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol. | 2016 | Mussa, Alessandro; Molinatto, Cristina; Baldassarre, Giuseppina; Riberi, Evelise; Russo, Silvia; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista | |
| Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes | 2017 | DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista | |
| Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes | 2017 | Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoroso, Antonio; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo | |
| In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients | 2020 | Pozzi E.; Giorgio E.; Mancini C.; Lo Buono N.; Augeri S.; Ferrero M.; Di Gregorio E.; Riberi E.; Vinciguerra M.; Nanetti L.; Bianchi F.T.; Sassi M.P.; Costanzo V.; Mariotti C.; Funaro A.; Cavalieri S.; Brusco A. | |
| Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families | 2023 | Wojcik, Monica H; Srivastava, Siddharth; Agrawal, Pankaj B; Balci, Tugce B; Callewaert, Bert; Calvo, Pier Luigi; Carli, Diana; Caudle, Michelle; Colaiacovo, Samantha; Cross, Laura; Demetriou, Kalliope; Drazba, Katy; Dutra-Clarke, Marina; Edwards, Matthew; Genetti, Casie A; Grange, Dorothy K; Hickey, Scott E; Isidor, Bertrand; Küry, Sébastien; Lachman, Herbert M; Lavillaureix, Alinoe; Lyons, Michael J; Marcelis, Carlo; Marco, Elysa J; Martinez-Agosto, Julian A; Nowak, Catherine; Pizzol, Antonio; Planes, Marc; Prijoles, Eloise J; Riberi, Evelise; Rush, Eric T; Russell, Bianca E; Sachdev, Rani; Schmalz, Betsy; Shears, Deborah; Stevenson, David A; Wilson, Kate; Jansen, Sandra; de Vries, Bert B A; Curry, Cynthia J | |
| Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | 2020 | Satterstrom, F Kyle; Kosmicki, Jack A; Wang, Jiebiao; Breen, Michael S; De Rubeis, Silvia; An, Joon-Yong; Peng, Minshi; Collins, Ryan; Grove, Jakob; Klei, Lambertus; Stevens, Christine; Reichert, Jennifer; Mulhern, Maureen S; Artomov, Mykyta; Gerges, Sherif; Sheppard, Brooke; Xu, Xinyi; Bhaduri, Aparna; Norman, Utku; Brand, Harrison; Schwartz, Grace; Nguyen, Rachel; Guerrero, Elizabeth E; Dias, Caroline; Aleksic B; Anney R; Barbosa M; Bishop S; Brusco A; Bybjerg-Grauholm J; Carracedo A; Chan MCY; Chiocchetti AG; Chung BHY; Coon H; Cuccaro ML; Curró A; Dalla Bernardina B; Doan R; Domenici E; Dong S; Fallerini C; Fernández-Prieto M; Ferrero GB; Freitag CM; Fromer M; Gargus JJ; Geschwind D; Giorgio E; González-Peñas J; Guter S; Halpern D; Hansen-Kiss E; He X; Herman GE; Hertz-Picciotto I; Hougaard DM; Hultman CM; Ionita-Laza I; Jacob S; Jamison J; Jugessur A; Kaartinen M; Knudsen GP; Kolevzon A; Kushima I; Lee SL; Lehtimäki T; Lim ET; Lintas C; Lipkin WI; Lopergolo D; Lopes F; Ludena Y; Maciel P; Magnus P; Mahjani B; Maltman N; Manoach DS; Meiri G; Menashe I; Miller J; Minshew N; Montenegro EMS; Moreira D; Morrow EM; Mors O; Mortensen PB; Mosconi M; Muglia P; Neale BM; Nordentoft M; Ozaki N; Palotie A; Parellada M; Passos-Bueno MR; Pericak-Vance M; Persico AM; Pessah I; Puura K; Reichenberg A; Renieri A; Riberi E; Robinson EB; Samocha KE; Sandin S; Santangelo SL; Schellenberg G; Scherer SW; Schlitt S; Schmidt R; Schmitt L; Silva IMW; Singh T; Siper PM; Smith M; Soares G; Stoltenberg C; Suren P; Susser E; Sweeney J; Szatmari P; Tang L; Tassone F; Teufel K; Trabetti E; Trelles MDP; Walsh CA; Weiss LA; Werge T; Werling DM; Wigdor EM; Wilkinson E; Willsey AJ; Yu TW; Yu MHC; Yuen R; Zachi E; Agerbo E; Als TD; Appadurai V; Bækvad-Hansen M; Belliveau R; Buil A; Carey CE; Cerrato F; Chambert K; Churchhouse C; Dalsgaard S; Demontis D; Dumont A; Goldstein J; Hansen CS; Hauberg ME; Hollegaard MV; Howrigan DP; Huang H; Maller J; Martin AR; Martin J; Mattheisen M; Moran J; Pallesen J; Palmer DS; Pedersen CB; Pedersen MG; Poterba T; Poulsen JB; Ripke S; Schork AJ; Thompson WK; Turley P; Walters RK; Betancur, Catalina; Cook, Edwin H; Gallagher, Louise; Gill, Michael; Sutcliffe, James S; Thurm, Audrey; Zwick, Michael E; Børglum, Anders D; State, Matthew W; Cicek, A Ercument; Talkowski, Michael E; Cutler, David J; Devlin, Bernie; Sanders, Stephan J; Roeder, Kathryn; Daly, Mark J; Buxbaum, Joseph D | |
| Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity | 2019 | Mancini, Cecilia; Hoxha, Eriola; Iommarini, Luisa; Brussino, Alessandro; Richter, Uwe; Montarolo, Francesca; Cagnoli, Claudia; Parolisi, Roberta; Gondor Morosini, Diana Iulia; Nicolò, Valentina; Maltecca, Francesca; Muratori, Luisa; Ronchi, Giulia; Geuna, Stefano; Arnaboldi, Francesca; Donetti, Elena; Giorgio, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Casari, Giorgio; Altruda, Fiorella; Turco, Emilia; Gasparre, Giuseppe; Battersby, Brendan J.; Porcelli, Anna Maria; Ferrero, Enza; Brusco, Alfredo; Tempia, Filippo | |
| Mindreading abilities and borderline personality disorder: A comprehensive assessment using the Theory of Mind Assessment Scale | 2019 | Colle L.; Gabbatore I.; Riberi E.; Borroz E.; Bosco F.M.; Keller R. | |
| NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations | 2019 | Carli, Diana; Giorgio, Elisa; Pantaleoni, Francesca; Bruselles, Alessandro; Barresi, Sabina; Riberi, Evelise; Licciardi, Francesco; Gazzin, Andrea; Baldassarre, Giuseppina; Pizzi, Simone; Niceta, Marcello; Radio, Francesca Clementina; Molinatto, Cristina; Montin, Davide; Calvo, Pier Luigi; Ciolfi, Andrea; Fleischer, Nicole; Ferrero, Giovanni Battista; Brusco, Alfredo; Tartaglia, Marco | |
| Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy | 2019 | Mancini, Cecilia; Giorgio, Elisa; Rubegni, Anna; Pradotto, Luca; Bagnoli, Silvia; Rubino, Elisa; Prontera, Paolo; Cavalieri, Simona; Di Gregorio, Eleonora; Ferrero, Marta; Pozzi, Elisa; Riberi, Evelise; Ferrero, Patrizia; Nigro, Pasquale; Mauro, Alessandro; Zibetti, Maurizio; Tessa, Alessandra; Barghigiani, Melissa; Antenora, Antonella; Sirchia, Fabio; Piacentini, Silvia; Silvestri, Gabriella; De Michele, Giuseppe; Filla, Alessandro; Orsi, Laura; Santorelli, Filippo Maria; Brusco, Alfredo | |
| Recessive gene disruptions in autism spectrum disorder | 2019 | Doan R.N.; Lim E.T.; De Rubeis S.; Betancur C.; Cutler D.J.; Chiocchetti A.G.; Overman L.M.; Soucy A.; Goetze S.; ASC consortium; Brusco A.; Curró A.; Fallerini C.; Lopergolo D.; Lintas C.; Domenici E.; Dalla Bernardina B.; Ferrero G.B.; Giorgio E.; Trabetti E.; Renieri A.; Riberi E.; Freitag C.M.; Daly M.J.; Walsh C.A.; Buxbaum J.D.; Yu T.W. | |
| Syndromic Disorders Caused by Disturbed Human Imprinting | 2019 | Carli, Diana; Riberi, Evelise; Ferrero, Giovanni Battista; Mussa, Alessandro |