Foto del docente

Elena Maestrini

Professoressa associata confermata

Dipartimento di Farmacia e Biotecnologie

Settore scientifico disciplinare: BIO/18 GENETICA

Pubblicazioni

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 [articolo]

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 [articolo]

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 [articolo]

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 [articolo]

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 [articolo]

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 [articolo]

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 [articolo]

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 [articolo]

Torrico, Bàrbara; Fernàndez-Castillo, Noèlia; Hervás, Amaia; Milà, Montserrat; Salgado, Marta; Rueda, Isabel; Buitelaar, Jan K.; Rommelse, Nanda; Oerlemans, Anoek M.; Bralten, Janita; Freitag, Christine M.; Reif, Andreas; Battaglia, Agatino; Mazzone, Luigi; Maestrini, Elena; Cormand, Bru; Toma, Claudio, Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability, «EUROPEAN JOURNAL OF HUMAN GENETICS», 2015, 23, pp. 1694 - 1701 [articolo]

O'Dushlaine, C; Rossin, L; Lee, Ph; Duncan, L; Parikshak, Nn; Newhouse, S; Ripke, S; Neale, Bm; Purcell, Sm; Posthuma, D; Nurnberger, Ji; Lee, Sh; Faraone, Sv; Perlis, Rh; Mowry, Bj; Thapar, A; Goddard, Me; Witte, Js; Absher, D; Agartz, I; Akil, H; Amin, F; Andreassen, Oa; Anjorin, A; Anney, R; Anttila, V; Arking, De; Asherson, P; Azevedo, Mh; Backlund, L; Badner, Ja; Bailey, Aj; Banaschewski, T; Barchas, Jd; Barnes, Mr; Barrett, Tb; Bass, N; Battaglia, A; Bauer, M; Bayés, M; Bellivier, F; Bergen, Se; Berrettini, W; Betancur, C; Bettecken, T; Biederman, J; Binder, Eb; Black, Dw; Blackwood, Dh; Bloss, Cs; Boehnke, M; Boomsma, Di; Breuer, R; Bruggeman, R; Cormican, P; Buccola, Ng; Buitelaar, Jk; Bunney, We; Buxbaum, Jd; Byerley, Wf; Byrne, Em; Caesar, S; Cahn, W; Cantor, Rm; Casas, M; Chakravarti, A; Chambert, K; Choudhury, K; Cichon, S; Mattheisen, M; Cloninger, Cr; Collier, Da; Cook, Eh; Coon, H; Cormand, B; Corvin, A; Coryell, Wh; Craig, Dw; Craig, Iw; Crosbie, J; Cuccaro, Ml; Curtis, D; Czamara, D; Datta, S; Dawson, G; Day, R; De Geus, Ej; Degenhardt, F; Djurovic, S; Donohoe, Gj; Doyle, Ae; Duan, J; Dudbridge, F; Duketis, E; Ebstein, Rp; Edenberg, Hj; Elia, J; Ennis, S; Etain, B; Fanous, A; Farmer, Ae; Ferrier, In; Flickinger, M; Fombonne, E; Foroud, T; Frank, J; Franke, B; Fraser, C; Freedman, R; Freimer, Nb; Freitag, Cm; Friedl, M; Frisén, L; Gallagher, L; Gejman, Pv; Georgieva, L; Gershon, Es; Giegling, I; Gill, M; Gordon, Sd; Gordon-Smith, K; Green, Ek; Greenwood, Ta; Grice, De; Gross, M; Grozeva, D; Guan, W; Gurling, H; De Haan, L; Haines, Jl; Hakonarson, H; Hallmayer, J; Hamilton, Sp; Hamshere, Ml; Hansen, Tf; Hartmann, Am; Hautzinger, M; Heath, Ac; Henders, Ak; Herms, S; Hickie, Ib; Hipolito, M; Hoefels, S; Holsboer, F; Hoogendijk, Wj; Hottenga, Jj; Hultman, Cm; Hus, V; Ingason, A; Ising, M; Jamain, S; Jones, Eg; Jones, I; Jones, L; Tzeng, Jy; Kähler, Ak; Kahn, Rs; Kandaswamy, R; Keller, Mc; Kennedy, Jl; Kenny, E; Kent, L; Kim, Y; Kirov, Gk; Klauck, Sm; Klei, L; Knowles, Ja; Kohli, Ma; Koller, Dl; Konte, B; Korszun, A; Krabbendam, L; Krasucki, R; Kuntsi, J; Kwan, P; Landén, M; Längström, N; Lathrop, M; Lawrence, J; Lawson, Wb; Leboyer, M; Ledbetter, Dh; Lencz, T; Lesch, Kp; Levinson, Df; Lewis, Cm; Li, J; Lichtenstein, P; Lieberman, Ja; Lin, Dy; Linszen, Dh; Liu, C; Lohoff, Fw; Loo, Sk; Lord, C; Lowe, Jk; Lucae, S; Macintyre, Dj; Madden, Pa; Maestrini, E; Magnusson, Pk; Mahon, Pb; Maier, W; Malhotra, Ak; Mane, Sm; Martin, Cl; Martin, Ng; Matthews, K; Mattingsdal, M; Mccarroll, Sa; Mcghee, Ka; Mcgough, Jj; Mcgrath, Pj; Mcguffin, P; Mcinnis, Mg; Mcintosh, A; Mckinney, R; Mclean, Aw; Mcmahon, Fj; Mcmahon, Wm; Mcquillin, A; Medeiros, H; Medland, Se; Meier, S; Melle, I; Meyer, J; Middeldorp, Cm; Middleton, L; Milanova, V; Miranda, A; Monaco, A; Montgomery, Gw; Moran, Jl; Moreno-De-Luca, D; Morken, G; Morris, Dw; Morrow, Em; Moskvina, V; Muglia, P; Mühleisen, Tw; Muir, Wj; Müller-Myhsok, B; Murtha, M; Myers, Rm; Myin-Germeys, I; Neale, Mc; Nelson, Sf; Nievergelt, Cm; Nikolov, I; Nimgaonkar, V; Nolen, Wa; Nöthen, Mm; Nwulia, Ea; Nyholt, Dr; Oades, Rd; Olincy, A; Oliveira, G; Olsen, L; Ophoff, Ra; Osby, U; Owen, Mj; Palotie, A; Parr, Jr; Paterson, Ad; Pato, Cn; Pato, Mt; Penninx, Bw; Pergadia, Ml; Pericak-Vance, Ma; Pickard, Bs; Pimm, J; Piven, J; Potash, Jb; Poustka, F; Propping, P; Puri, V; Quested, Dj; Quinn, Em; Ramos-Quiroga, Ja; Rasmussen, Hb; Raychaudhuri, S; Rehnström, K; Reif, A; Ribasés, M; Rice, Jp; Rietschel, M; Roeder, K; Roeyers, H; Rothenberger, A; Rouleau, G; Ruderfer, D; Rujescu, D; Sanders, Ar; Sanders, Sj; Santangelo, Sl; Sergeant, Ja; Schachar, R; Schalling, M; Schatzberg, Af; Scheftner, Wa; Schellenberg, Gd; Scherer, Sw; Schork, Nj; Schulze, Tg; Schumacher, J; Schwarz, M; Scolnick, E; Scott, Lj; Shi, J; Shilling, Pd; Shyn, Si; Silverman, Jm; Slager, Sl; Smalley, Sl; Smit, Jh; Smith, En; Sonuga-Barke, Ej; St Clair, D; State, M; Steffens, M; Steinhausen, Hc;, Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways, «NATURE NEUROSCIENCE», 2015, 18, pp. 199 - 209 [articolo]

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, pp. 1 - 11 [articolo]

Ceroni F;Sagar A;Simpson NH;Gawthrope AJ;Newbury DF;Pinto D;Francis SM;Tessman DC;Cook EH;Monaco AP;Maestrini E;Pagnamenta AT;Jacob S, A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma., «AUTISM RESEARCH», 2014, 7, pp. 254 - 263 [articolo]

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-Vance M; Paterson AD; Parr JR; Oliveira G; Nurnberger JI; Monaco AP; Maestrini E; Klauck SM; Hakonarson H; Haines JL; Geschwind DH; Freitag CM; Folstein SE; Ennis S; Coon H; Battaglia A; Szatmari P; Sutcliffe JS; Hallmayer J; Gill M; Cook EH; Buxbaum JD; Devlin B; Gallagher L; Betancur C; Scherer SW., Convergence of genes and cellular pathways dysregulated in autism spectrum disorders., «AMERICAN JOURNAL OF HUMAN GENETICS», 2014, 94, pp. 677 - 694 [articolo]

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 [articolo]

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 [articolo]