Winsvold, Bendik S; Harder, Aster V E; Ran, Caroline; Chalmer, Mona A; Dalmasso, Maria Carolina; Ferkingstad, Egil; Tripathi, Kumar Parijat; Bacchelli, Elena; Børte, Sigrid; Fourier, Carmen; Petersen, Anja S; Vijfhuizen, Lisanne S; Magnusson, Sigurdur H; O'Connor, Emer; Bjornsdottir, Gyda; Häppölä, Paavo; Wang, Yen-Feng; Callesen, Ida; Kelderman, Tim; Gallardo, Victor J; de Boer, Irene; Olofsgård, Felicia Jennysdotter; Heinze, Katja; Lund, Nunu; Thomas, Laurent F; Hsu, Chia-Lin; Pirinen, Matti; Hautakangas, Heidi; Ribasés, Marta; Guerzoni, Simona; Sivakumar, Prasanth; Yip, Janice; Heinze, Axel; Küçükali, Fahri; Ostrowski, Sisse R; Pedersen, Ole B; Kristoffersen, Espen S; Martinsen, Amy E; Artigas, María S; Lagrata, Susie; Cainazzo, Maria Michela; Adebimpe, Joycee; Quinn, Olivia; Göbel, Carl; Cirkel, Anna; Volk, Alexander E; Heilmann-Heimbach, Stefanie; Skogholt, Anne Heidi; Gabrielsen, Maiken E; Wilbrink, Leopoldine A; Danno, Daisuke; Mehta, Dwij; Guðbjartsson, Daníel F; Rosendaal, Frits R; Willems van Dijk, Ko; Fronczek, Rolf; Wagner, Michael; Scherer, Martin; Göbel, Hartmut; Sleegers, Kristel; Sveinsson, Olafur A; Pani, Luca; Zoli, Michele; Ramos-Quiroga, Josep A; Dardiotis, Efthimios; Steinberg, Anna; Riedel-Heller, Steffi; Sjöstrand, Christina; Thorgeirsson, Thorgeir E; Stefansson, Hreinn; Southgate, Laura; Trembath, Richard C; Vandrovcova, Jana; Noordam, Raymond; Paemeleire, Koen; Stefansson, Kari; Fann, Cathy Shen-Jang; Waldenlind, Elisabet; Tronvik, Erling; Jensen, Rigmor H; Chen, Shih-Pin; Houlden, Henry; Terwindt, Gisela M; Kubisch, Christian; Maestrini, Elena; Vikelis, Michail; Pozo-Rosich, Patricia; Belin, Andrea C; Matharu, Manjit; van den Maagdenberg, Arn M J M; Hansen, Thomas F; Ramirez, Alfredo; Zwart, John-Anker, Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor, «ANNALS OF NEUROLOGY», 2023, 94, pp. 713 - 726 [Scientific article]Open Access
Viggiano, Marta; D'Andrea, Tiziano; Cameli, Cinzia; Posar, Annio; Visconti, Paola; Scaduto, Maria Cristina; Colucci, Roberta; Rochat, Magali J.; Ceroni, Fabiola; Milazzo, Giorgio; Fucile, Sergio; Maestrini, Elena; Bacchelli, Elena, Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility, «FRONTIERS IN PSYCHIATRY», 2022, 13, Article number: 858238 , pp. 1 - 13 [Scientific article]Open Access
Marta Viggiano, Tiziano D’Andrea, Cinzia Cameli, Annio Posar, Paola Visconti, Maria Cristina Scaduto, Roberta Colucci, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Elena Maestrini,
Elena Bacchelli, Contribution of CACNA1H variants in Autism Spectrum Disorder
Susceptibility, in: Poster abstract book, 2022, pp. 1 - 1 (atti di: Neurodevelopmental disorders: from molecular mechanisms to social inclusion, Bordeaux, France, Dal 18 al 20 maggio 2022) [Abstract]
Marta Viggiano, Tiziano D'Andrea, Cinzia Cameli, Annio Posar, Maria C. Scaduto, Roberta Colucci, Magalì Rochat, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Paola Visconti, Elena Bacchelli, Elena Maestrini, Contribution of compound heterozygous CACNA1H mutations in autism spectrum disorder susceptibility, «EUROPEAN JOURNAL OF HUMAN GENETICS», 2022, 13, pp. 266 - 267 [Abstract]Open Access
Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Romagnoli, Martina; Baccari, Flavia; Zenesini, Corrado; Visconti, Paola; Posar, Annio; Scaduto, Maria Cristina; Ormanbekova, Danara; Battaglia, Agatino; Tancredi, Raffaella; Cameli, Cinzia; Viggiano, Marta; Olivieri, Anna; Torroni, Antonio; Maestrini, Elena; Rochat, Magali Jane; Bacchelli, Elena; Carelli, Valerio; Maresca, Alessandra, Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder, «FRONTIERS IN GENETICS», 2022, 13, pp. 01 - 15 [Scientific article]Open Access
Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Flavia Baccari, Martina Romagnoli, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Elena Maestrini, Cinzia Cameli, Marta Viggiano, Anna Olivieri, Antonio Torroni, Elena Bacchelli, Magali Rochat, Valerio Carelli, Alessandra Maresca, Mitochondrial DNA influences the susceptibility to
Autism Spectrum Disorders and the severity of the clinical
phenotype, «EUROPEAN JOURNAL OF HUMAN GENETICS», 2022, 30, pp. 267 - 267 [Abstract]
Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC, Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E., An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder., «JOURNAL OF CELLULAR AND MOLECULAR MEDICINE», 2021, 25, pp. 2459 - 2470 [Scientific article]Open Access
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
Magali Jane Rochat, Giacomo Distefano, Monica Maffei, Francesco Toni, Annio Posar, Maria Cristina Scaduto, Federica Resca, Cinzia Cameli, Elena Bacchelli, Elena Maestrini, Paola Visconti, Brain magnetic resonance findings in 117 children with autism spectrum disorder under 5 years old., «BRAIN SCIENCES», 2020, 10, Article number: 741 , pp. 1 - 15 [Scientific article]Open Access
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
Lin B.D.; Colas F.; Nijman I.J.; Medic J.; Brands W.; Parr J.R.; van Eijk K.R.; Klauck S.M.; Chiocchetti A.G.; Freitag C.M.; Maestrini E.; Bacchelli E.; Coon H.; Vicente A.; Oliveira G.; Pagnamenta A.T.; Gallagher L.; Ennis S.; Anney R.; Bourgeron T.; Luykx J.J.; Vorstman J., The role of rare compound heterozygous events in autism spectrum disorder, «TRANSLATIONAL PSYCHIATRY», 2020, 10, Article number: 204 , pp. 204 - 211 [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, Article number: 212 , 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, Article number: 8757 , pp. eaap8757 - eaap8757 [Scientific article]Open Access
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]
