Foto del docente

Elena Bacchelli

Associate Professor

Department of Pharmacy and Biotechnology

Academic discipline: BIO/18 Genetics

Publications

Bacchelli, Elena; Cameli, Cinzia; Viggiano, Marta; Igliozzi, Roberta; Mancini, Alice; Tancredi, Raffaella; Battaglia, Agatino; Maestrini, Elena, An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray, «SCIENTIFIC REPORTS», 2020, 10, pp. 3198 - 3210 [Scientific article]Open Access

Rochat MJ, Distefano G, Maffei M, Toni F, Posar A, Scaduto MC, Resca F, Cameli C, Bacchelli E, Maestrini E, Visconti P., Brain magnetic resonance findings in 117 children with autism spectrum disorder under 5 years old., «BRAIN SCIENCES», 2020, 10, pp. 1 - 15 [Scientific article]

Loi E.; Moi L.; Blois S.; Bacchelli E.; Vega Benedetti A.F.; Cameli C.; Fadda R.; Maestrini E.; Carta M.; Doneddu G.; Zavattari P., ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario, «JOURNAL OF CELLULAR AND MOLECULAR MEDICINE», 2020, 24, pp. 2064 - 2069 [Scientific article]Open Access

Bacchelli, Elena; Loi, Eleonora; Cameli, Cinzia; Moi, Loredana; Benedetti, Ana Florencia Vega; Blois, Sylvain; Fadda, Antonio; Bonora, Elena; Mattu, Sandra; Fadda, Roberta; Chessa, Rita; Maestrini, Elena; Doneddu, Giuseppe; Zavattari, Patrizia, Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene, «JOURNAL OF CLINICAL MEDICINE», 2019, 8, pp. 1 - 19 [Scientific article]Open Access

Pippucci, Tommaso; Licchetta, Laura; Baldassari, Sara; Marconi, Caterina; De Luise, Monica; Myers, Candace; Nardi, Elena; Provini, Federica; Cameli, Cinzia; Minardi, Raffaella; Bacchelli, Elena; Giordano, Lucio; Crichiutti, Giovanni; d'Orsi, Giuseppe; Seri, Marco; Gasparre, Giuseppe; Mefford, Heather C.; Tinuper, Paolo; Bisulli, Francesca; Santucci, Margherita, Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies, «ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY», 2019, 6, pp. 475 - 485 [Scientific article]Open Access

Anttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K.; Walters, Raymond K.; Bras, Jose; Duncan, Laramie; Escott-Price, Valentina; Falcone, Guido J.; Gormley, Padhraig; Malik, Rainer; Patsopoulos, Nikolaos A.; Ripke, Stephan; Wei, Zhi; Yu, Dongmei; Lee, Phil H.; Turley, Patrick; Grenier-Boley, Benjamin; Chouraki, Vincent; Kamatani, Yoichiro; Berr, Claudine; Letenneur, Luc; Hannequin, Didier; Amouyel, Philippe; Boland, Anne; Deleuze, Jean-François; Duron, Emmanuelle; Vardarajan, Badri N.; Reitz, Christiane; Goate, Alison M.; Huentelman, Matthew J.; Ilyas Kamboh, M.; Larson, Eric B.; Rogaeva, Ekaterina; George-Hyslop, Peter St; Hakonarson, Hakon; Kukull, Walter A.; Farrer, Lindsay A.; Barnes, Lisa L.; Beach, Thomas G.; Yesim Demirci, F.; Head, Elizabeth; Hulette, Christine M.; Jicha, Gregory A.; Kauwe, John S.K.; Kaye, Jeffrey A.; Leverenz, James B.; Levey, Allan I.; Lieberman, Andrew P.; Pankratz, Vernon S.; Poon, Wayne W.; Quinn, Joseph F.; Saykin, Andrew J.; Schneider, Lon S.; Smith, Amanda G.; Sonnen, Joshua A.; Stern, Robert A.; Van Deerlin, Vivianna M.; Van Eldik, Linda J.; Harold, Denise; Russo, Giancarlo; Rubinsztein, David C.; Bayer, Anthony; Tsolaki, Magda; Proitsi, Petra; Fox, Nick C.; Hampel, Harald; Owen, Michael J.; Mead, Simon; Passmore, Peter; Morgan, Kevin; Nöthen, Markus M.; Rossor, Martin; Lupton, Michelle K.; Hoffmann, Per; Kornhuber, Johannes; Lawlor, Brian; McQuillin, Andrew; Al-Chalabi, Ammar; Bis, Joshua C.; Ruiz, Agustin; Boada, Mercè; Seshadri, Sudha; Beiser, Alexa; Rice, Kenneth; Van Der Lee, Sven J.; De Jager, Philip L.; Geschwind, Daniel H.; Riemenschneider, Matthias; Riedel-Heller, Steffi; Rotter, Jerome I.; Ransmayr, Gerhard; Hyman, Bradley T.; Cruchaga, Carlos; Alegret, Montserrat; Winsvold, Bendik; Palta, Priit; Farh, Kai-How; Cuenca-Leon, Ester; Furlotte, Nicholas; Kurth, Tobias; Ligthart, Lannie; Terwindt, Gisela M.; Freilinger, Tobias; Ran, Caroline; Gordon, Scott D.; Borck, Guntram; Adams, Hieab H.H.; Lehtimäki, Terho; Wedenoja, Juho; Buring, Julie E.; Schürks, Markus; Hrafnsdottir, Maria; Hottenga, Jouke-Jan; Penninx, Brenda; Artto, Ville; Kaunisto, Mari; Vepsäläinen, Salli; Martin, Nicholas G.; Montgomery, Grant W.; Kurki, Mitja I.; Hämäläinen, Eija; Huang, Hailiang; Huang, Jie; Sandor, Cynthia; Webber, Caleb; Muller-Myhsok, Bertram; Schreiber, Stefan; Salomaa, Veikko; Loehrer, Elizabeth; Göbel, Hartmut; Macaya, Alfons; Pozo-Rosich, Patricia; Hansen, Thomas; Werge, Thomas; Kaprio, Jaakko; Metspalu, Andres; Kubisch, Christian; Ferrari, Michel D.; Belin, Andrea C.; Van Den Maagdenberg, Arn M. J. M.; Zwart, John-Anker; Boomsma, Dorret; Eriksson, Nicholas; Olesen, Jes; Chasman, Daniel I.; Nyholt, Dale R.; Avbersek, Andreja; Baum, Larry; Berkovic, Samuel; Bradfield, Jonathan; Buono, Russell; Catarino, Claudia B.; Cossette, Patrick; De Jonghe, Peter; Depondt, Chantal; Dlugos, Dennis; Ferraro, Thomas N.; French, Jacqueline; Hjalgrim, Helle; Jamnadas-Khoda, Jennifer; Kälviäinen, Reetta; Kunz, Wolfram S.; Lerche, Holger; Leu, Costin; Lindhout, Dick; Lo, Warren; Lowenstein, Daniel; McCormack, Mark; Møller, Rikke S.; Molloy, Anne; Ng, Ping-Wing; Oliver, Karen; Privitera, Michael; Radtke, Rodney; Ruppert, Ann-Kathrin; Sander, Thomas; Schachter, Steven; Schankin, Christoph; Scheffer, Ingrid; Schoch, Susanne; Sisodiya, Sanjay M.; Smith, Philip; Sperling, Michael; Striano, Pasquale; Surges, Rainer; Neil Thomas, G.; Visscher, Frank; Whelan, Christopher D.; Zara, Federico; Heinzen, Erin L.; Marson, Anthony; Becker, Felicitas; Stroink, Hans; Zimprich, Fritz; Gasser, Thomas; Gibbs, Raphael; Heutink, Peter; Martinez, Maria; Morris, Huw R.; Sharma, Manu; Ryten, Mina; Mok, Kin Y.; Pulit, Sara; Bevan, Steve; Holliday, Elizabeth; Attia, John; Battey, Thomas; Boncoraglio, Giorgio; Thijs, Vincent; Chen, Wei-Min; Mitchell, Braxton; Rothwell, Peter; Sharma, Pankaj; Sudlow, Cathie; Vicente, Astrid; Markus, Hugh; Kourkoulis, Christina; Pera, Joana; Raffeld, Miria, Analysis of shared heritability in common disorders of the brain, «SCIENCE», 2018, 360, pp. eaap8757 - eaap8757 [Scientific article]

Cameli, Cinzia; Bacchelli, Elena; De Paola, Maria; Giucastro, Giuliano; Cifiello, Stefano; Collo, Ginetta; Cainazzo, Maria Michela; Pini, Luigi Alberto; Maestrini, Elena*; Zoli, Michele, 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, Margaret A.; Pejovic-Milovancevic, Milica; Pedersen, Marianne Giørtz; Pedersen, Carsten Bøcker; Paterson, Andrew D.; Parr, Jeremy R.; Pagnamenta, Alistair T.; Oliveira, Guiomar; Nurnberger, John I.; Nordentoft, Merete; Murtha, Michael T.; Mouga, Susana; Mortensen, Preben Bo; Mors, Ole; Morrow, Eric M.; Moreno-De-Luca, Daniel; Monaco, Anthony P.; Minshew, Nancy; Merikangas, Alison; Mcmahon, William M.; Mcgrew, Susan G.; Mattheisen, Manuel; Martsenkovsky, Igor; Martin, Donna M.; Mane, Shrikant M.; Magnusson, Pall; Magalhaes, Tiago; Maestrini, Elena; Lowe, Jennifer K.; Lord, Catherine; Levitt, Pat; Martin, Christa Lese; Ledbetter, David H.; Leboyer, Marion; Lecouteur, Ann S.; Ladd-Acosta, Christine; Kolevzon, Alexander; Klauck, Sabine M.; Jacob, Suma; Iliadou, Bozenna; Hultman, Christina M.; Hougaard, David M.; Hertz-Picciotto, Irva; Hendren, Robert; Hansen, Christine Søholm; Haines, Jonathan L.; Guter, Stephen J.; Grice, Dorothy E.; Green, Jonathan M.; Green, Andrew; Goldberg, Arthur P.; Gillberg, Christopher; Gilbert, John; Gallagher, Louise; Freitag, Christine M.; Fombonne, Eric; Folstein, Susan E.; Fernandez, Bridget; Fallin, M. Daniele; Ercan-Sencicek, A. Gulhan; Ennis, Sean; Duque, Frederico; Duketis, Eftichia; Delorme, Richard; Derubeis, Silvia; Dejonge, Maretha V.; Dawson, Geraldine; Cuccaro, Michael L.; Correia, Catarina T.; Conroy, Judith; Conceiã§ã£o, Ines C.; Chiocchetti, Andreas G.; Celestino-Soper, Patrícia B. S.; Casey, Jillian; Cantor, Rita M.; Cafã©, Cã¡tia; Bybjerg-Grauholm, Jonas; Brennan, Sean; Bourgeron, Thomas; Bolton, Patrick F.; Bã¶lte, Sven; Bolshakova, Nadia; Betancur, Catalina; Bernier, Raphael; Beaudet, Arthur L.; Battaglia, Agatino; Bal, Vanessa H.; Baird, Gillian; Bailey, Anthony J.; Bækvad-Hansen, Marie; Bader, Joel S.; Bacchelli, Elena; Anagnostou, Evdokia; Amaral, David; Almeida, Joana; Bã¸rglum, Anders D.; Buxbaum, Joseph D.; Chakravarti, Aravinda; Cook, Edwin H.; Coon, Hilary; Geschwind, Daniel H.; Gill, Michael; Hallmayer, Joachim; Palotie, Aarno; Santangelo, Susan; Sutcliffe, James S.; Arking, Dan E.; Devlin, Bernie; Daly, Mark J.; Hakonarson, Hakon, 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, pp. 1 - 17 [Scientific article]

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.; Vieland, Veronica J.; Vicente, Astrid M.; Van Engeland, 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; 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, Margaret A.; Pejovic-Milovancevic, Milica; Pedersen, Marianne G.; Pedersen, Carsten B.; Paterson, Andrew D.; Parr, Jeremy R.; Pagnamenta, Alistair T.; Oliveira, Guiomar; Nurnberger, John I.; Murtha, Michael T.; Mouga, Susana; Morrow, Eric M.; Deluca, Daniel Moreno; Monaco, Anthony P.; Minshew, Nancy; Merikangas, Alison; Mcmahon, William M.; Mcgrew, Susan G.; Martsenkovsky, Igor; Martin, Donna M.; Mane, Shrikant M.; Magnusson, Pall; Magalhaes, Tiago; Maestrini, Elena; Lowe, Jennifer K.; Lord, Catherine; Levitt, Pat; Martin, Christa Lese; Ledbetter, David H.; Leboyer, Marion; Lecouteur, Ann S.; Ladd-Acosta, Christine; Kolevzon, Alexander; Klauck, Sabine M.; Jacob, Suma; Iliadou, Bozenna; Hultman, Christina M.; Hertz-Picciotto, Irva; Hendren, Robert; Hansen, Christine S.; Haines, Jonathan L.; Guter, Stephen J.; Grice, Dorothy E.; Green, Jonathan M.; Green, Andrew; Goldberg, Arthur P.; Gillberg, Christopher; Gilbert, John; Gallagher, Louise; Freitag, Christine M.; Fombonne, Eric; Folstein, Susan E.; Fernandez, Bridget; Fallin, M. Daniele; Ercan-Sencicek, A. Gulhan; Ennis, Sean; Duque, Frederico; Duketis, Eftichia; Delorme, Richard; Derubeis, Silvia; Dejonge, Maretha V.; Dawson, Geraldine; Cuccaro, Michael L.; Correia, Catarina T.; Conroy, Judith; Conceiã§ã£o, Inês C.; Chiocchetti, Andreas G.; Celestino-Soper, Patrícia B. S.; Casey, Jillian; Cantor, Rita M.; Cafe, Cã¡tia; Brennan, Sean; Bourgeron, Thomas; Bolton, Patrick F.; Bã¶lte, Sven; Bolshakova, Nadia; Betancur, Catalina; Bernier, Raphael; Beaudet, Arthur L.; Battaglia, Agatino; Bal, Vanessa H.; Baird, Gillian; Bailey, Anthony J.; Bader, Joel S.; Bacchelli, Elena; Anagnostou, Evdokia; Amaral, David; Almeida, Joana; Buxbaum, Joseph D.; Chakravarti, Aravinda; Cook, Edwin H.; Coon, Hilary; Geschwind, Daniel H.; Gill, Michael; Hakonarson, Hakon; Hallmayer, Joachim; Palotie, Aarno; Santangelo, Susan; Sutcliffe, James S.; Arking, Dan E., 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]

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]

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, pp. 1 - 7 [Scientific article]Open Access

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