Cameli C.; Bacchelli E.; De Paola M.; Giucastro G.; Cifiello S.; Collo G.; Cainazzo M.M.; Pini L.A.; Maestrini E.; Zoli M., Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment, «EUROPEAN JOURNAL OF HUMAN GENETICS», 2018, 26, pp. 1824 - 1831 [Scientific article]
Antonelli, Manila; Fadda, Antonio; Loi, Eleonora; Moi, Loredana; Zavattari, Cesare; Sulas, Pia; Gentilini, Davide; Cameli, Cinzia; Bacchelli, Elena; Badiali, Manuela; Arcella, Antonella; Morra, Isabella; Giangaspero, Felice; Zavattari, Patrizia*, Integrated DNA methylation analysis identifies topographical and tumoral biomarkers in pilocytic astrocytomas, «ONCOTARGET», 2018, 9, pp. 13807 - 13821 [Scientific article]Open Access
Torrico, Bàrbara; Chiocchetti, Andreas G.; Bacchelli, Elena; Trabetti, Elisabetta; Hervás, Amaia; Franke, Barbara; Buitelaar, Jan K.; Rommelse, Nanda; Yousaf, Afsheen; Duketis, Eftichia; Freitag, Christine M.; Caballero-Andaluz, Rafaela; Martinez-Mir, Amalia; Scholl, Francisco G.; Ribasés, Marta; Battaglia, Agatino; Malerba, Giovanni; Delorme, Richard; Benabou, Marion; Maestrini, Elena; Bourgeron, Thomas; Cormand, Bru; Toma, Claudio, Lack of replication of previous autism spectrum disorder GWAS hits in European populations, «AUTISM RESEARCH», 2017, 10, pp. 202 - 211 [Scientific article]
Anney, Richard J. L.; Ripke, Stephan; Anttila, Verneri; Grove, Jakob; Holmans, Peter; Huang, Hailiang; Klei, Lambertus; Lee, Phil H.; Medland, Sarah E.; Neale, Benjamin; Robinson, Elise; Weiss, Lauren A.; Zwaigenbaum, Lonnie; Yu, Timothy W.; Wittemeyer, Kerstin; Willsey, A. Jeremy; Wijsman, Ellen M.; Werge, Thomas; Wassink, Thomas H.; Waltes, Regina; Walsh, Christopher A.; Wallace, Simon; Vorstman, Jacob A. S.; Vieland, Veronica J.; Vicente, Astrid M.; Vanengeland, Herman; Tsang, Kathryn; Thompson, Ann P.; Szatmari, Peter; Svantesson, Oscar; Steinberg, Stacy; Stefansson, Kari; Stefansson, Hreinn; State, Matthew W.; Soorya, Latha; Silagadze, Teimuraz; Scherer, Stephen W.; Schellenberg, Gerard D.; Sandin, Sven; Sanders, Stephan J.; Saemundsen, Evald; Rouleau, Guy A.; Rogã©, Bernadette; Roeder, Kathryn; Roberts, Wendy; Reichert, Jennifer; Reichenberg, Abraham; Rehnstrã¶m, Karola; Regan, Regina; Poustka, Fritz; Poultney, Christopher S.; Piven, Joseph; Pinto, Dalila; Pericak-Vance, Mar, Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia, «MOLECULAR AUTISM», 2017, 8, Article number: 21 , pp. 1 - 17 [Scientific article]Open Access
Weiner, Daniel J.; Wigdor, Emilie M.; Ripke, Stephan; Walters, Raymond K.; Kosmicki, Jack A.; Grove, Jakob; Samocha, Kaitlin E.; Goldstein, Jacqueline I.; Okbay, Aysu; Bybjerg-Grauholm, Jonas; Werge, Thomas; Hougaard, David M; Taylor, Jacob; Skuse, David; Devlin, Bernie; Anney, Richard; Sanders, Stephan J; Bishop, Somer; Mortensen, Preben Bo; Bã¸rglum, Anders D; Smith, George Davey; Daly, Mark J; Robinson, Elise B.; Bækvad-Hansen, Marie; Dumont, Ashley; Hansen, Christine; Hansen, Thomas F.; Howrigan, Daniel; Mattheisen, Manuel; Moran, Jennifer; Mors, Ole; Nordentoft, Merete; Nørgaard-Pedersen, Bent; Poterba, Timothy; Poulsen, Jesper; Stevens, Christine; Anttila, Verneri; Holmans, Peter; Huang, Hailiang; Klei, Lambertus; Lee, Phil H.; Medland, Sarah E.; Neale, Benjamin; Weiss, Lauren A.; Zwaigenbaum, Lonnie; Yu, Timothy W.; Wittemeyer, Kerstin; Willsey, A. Jeremy; Wijsman, Ellen M.; Wassink, Thomas H.; Waltes, Regina; Walsh, Christopher A.; Wallace, Simon; Vorstman, Jacob A. S., Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders, «NATURE GENETICS», 2017, 49, pp. 978 - 985 [Scientific article]Open Access
Bacchelli, Elena; Cainazzo, Maria Michela; Cameli, Cinzia; Guerzoni, Simona; Martinelli, Angela; Zoli, Michele; Maestrini, Elena; Pini, Luigi Alberto, A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants, «THE JOURNAL OF HEADACHE AND PAIN», 2016, 17, pp. 114 - 122 [Scientific article]Open Access
Bacchelli, Elena; Battaglia, Agatino; Cameli, Cinzia; Lomartire, Silvia; Tancredi, Raffaella; Thomson, Susanne; Sutcliffe, James S.; Maestrini, Elena, Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility, «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2015, 167, pp. 715 - 723 [Scientific article]
Toma, Claudio; Torrico, Bàrbara; Hervás, Amaia; Salgado, Marta; Rueda, Isabel; Valdés-Mas, Rafael; Buitelaar, Jan K.; Rommelse, Nanda; Franke, Barbara; Freitag, Christine; Reif, Andreas; Pérez-Jurado, Luis Alberto; Battaglia, Agatino; Mazzone, Luigi; Bacchelli, Elena; Puente, Xose S.; Cormand, Bru, Common and rare variants of microRNA genes in autism spectrum disorders, «THE WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY», 2015, 16, pp. 376 - 386 [Scientific article]
Magini, Pamela; Poscente, Monica; Ferrari, Simona; Vargiolu, Manuela; Bacchelli, Elena; Graziano, Claudio; Wischmeijer, Anita; Turchetti, Daniela; Malaspina, Elisabetta; Marchiani, Valentina; Cordelli, Duccio Maria; Franzoni, Emilio; Romeo, Giovanni; Seri, Marco, Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration, «MOLECULAR CYTOGENETICS», 2015, 8, Article number: 58 , pp. 1 - 7 [Scientific article]Open Access
Ceroni, Fabiola; Simpson, Nuala H.; Francks, Clyde; Baird, Gillian; Conti-Ramsden, Gina; Clark, Ann; Bolton, Patrick F.; Hennessy, Elizabeth R.; Donnelly, Peter; Bentley, David R.; Martin, Hilary; Parr, Jeremy; Pagnamenta, Alistair T.; Maestrini, Elena; Bacchelli, Elena; Fisher, Simon E.; Newbury, Dianne F., Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis', «EUROPEAN JOURNAL OF HUMAN GENETICS», 2015, 23, pp. 1113 - 1115 [Scientific article]
Bacchelli E;Ceroni F;Pinto D;Lomartire S;Giannandrea M;D'Adamo P;Bonora E;Parchi P;Tancredi R;Battaglia A;Maestrini E, A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder., «JOURNAL OF NEURODEVELOPMENTAL DISORDERS», 2014, 6, Article number: 17 , pp. 1 - 11 [Scientific article]Open Access
Pinto D; Delaby E; Merico D; Barbosa M; Merikangas A; Klei L; Thiruvahindrapuram B; Xu X; Ziman R; Wang Z; Vorstman JA; Thompson A; Regan R; Pilorge M; Pellecchia G; Pagnamenta AT; Oliveira B; Marshall CR; Magalhaes TR; Lowe JK; Howe JL; Griswold AJ; Gilbert J; Duketis E; Dombroski BA; De Jonge MV; Cuccaro M; Crawford EL; Correia CT; Conroy J; Conceição IC; Chiocchetti AG; Casey JP; Cai G; Cabrol C; Bolshakova N; Bacchelli E; Anney R; Gallinger S; Cotterchio M; Casey G; Zwaigenbaum L; Wittemeyer K; Wing K; Wallace S; van Engeland H; Tryfon A; Thomson S; Soorya L; Rogé B; Roberts W; Poustka F; Mouga S; Minshew N; McInnes LA; McGrew SG; Lord C; Leboyer M; Le Couteur AS; Kolevzon A; Jiménez González P; Jacob S; Holt R; Guter S; Green J; Green A; Gillberg C; Fernandez BA; Duque F; Delorme R; Dawson G; Chaste P; Café C; Brennan S; Bourgeron T; Bolton PF; Bölte S; Bernier R; Baird G; Bailey AJ; Anagnostou E; Almeida J; Wijsman EM; Vieland VJ; Vicente AM; Schellenberg GD; Pericak-Vanc, Convergence of genes and cellular pathways dysregulated in autism spectrum disorders., «AMERICAN JOURNAL OF HUMAN GENETICS», 2014, 94, pp. 677 - 694 [Scientific article]
Bonora, E.; Graziano, C.; Minopoli, F.; Bacchelli, E.; Magini, P.; Diquigiovanni, C.; Lomartire, S.; Bianco, F.; Vargiolu, M.; Parchi, P.; Marasco, E.; Mantovani, V.; Rampoldi, L.; Trudu, M.; Parmeggiani, A.; Battaglia, A.; Mazzone, L.; Tortora, G.; Maestrini, E.; Seri, M.; Romeo, G., Corrigendum: Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients(EMBO Mol Med, (2014), 6, (795–809), 10.1002/emmm.201303235), «EMBO MOLECULAR MEDICINE», 2014, 6, pp. 1639 - 1639 [Scientific article]
Ceroni F; Simpson NH; Francks C; Baird G; Conti-Ramsden G; Clark A; Bolton PF; Hennessy ER; Donnelly P; Bentley DR; Martin H; Parr J; Pagnamenta AT; Maestrini E; Bacchelli E; Fisher SE; Newbury DF, Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment., «EUROPEAN JOURNAL OF HUMAN GENETICS», 2014, 22, pp. 1165 - 1171 [Scientific article]
Bonora E;Graziano C;Minopoli F;Bacchelli E;Magini P;Diquigiovanni C;Lomartire S;Bianco F;Vargiolu M;Parchi P;Marasco E;Mantovani V;Rampoldi L;Trudu M;Parmeggiani A;Battaglia A;Mazzone L;Tortora G;Maestrini E;Seri M;Romeo G;IMGSAC, Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients., «EMBO MOLECULAR MEDICINE», 2014, 6, pp. 795 - 809 [Scientific article]Open Access
