MAESTRINI, ELENA
MAESTRINI, ELENA
DIPARTIMENTO DI FARMACIA E BIOTECNOLOGIE
Docenti di ruolo di Ia fascia
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder.
2014 Bacchelli E;Ceroni F;Pinto D;Lomartire S;Giannandrea M;D'Adamo P;Bonora E;Parchi P;Tancredi R;Battaglia A;Maestrini E
A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.
2014 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 genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants
2016 Bacchelli, Elena; Cainazzo, Maria Michela; Cameli, Cinzia; Guerzoni, Simona; Martinelli, Angela; Zoli, Michele; Maestrini, Elena; Pini, Luigi Alberto
A genome-wide linkage and association scan reveals novel loci for autism.
2009 WEISS LA, ARKING DE; GENE DISCOVERY PROJECT OF JOHNS HOPKINS & THE AUTISM CONSORTIUM, DALY MJ, CHAKRAVARTI A, BRUNE CW, WEST K, O'CONNOR A, HILTON G, TOMLINSON RL, WEST AB, COOK EH JR, CHAKRAVARTI A, WEISS LA, GREEN T, CHANG SC, GABRIEL S, GATES C, HANSON EM, KIRBY A, KORN J, KURUVILLA F, MCCARROLL S, MORROW EM, NEALE B, PURCELL S, SASANFAR R, SOUGNEZ C, STEVENS C, ALTSHULER D, GUSELLA J, SANTANGELO SL, SKLAR P, TANZI R, DALY MJ, ANNEY R, BAILEY AJ, BAIRD G, BATTAGLIA A, BERNEY T, BETANCUR C, BÖLTE S, BOLTON PF, BRIAN J, BRYSON SE, BUXBAUM JD, CABRITO I, CAI G, CANTOR RM, COOK EH JR, COON H, CONROY J, CORREIA C, CORSELLO C, CRAWFORD EL, CUCCARO ML, DAWSON G, DE JONGE M, DEVLIN B, DUKETIS E, ENNIS S, ESTES A, FARRAR P, FOMBONNE E, FREITAG CM, GALLAGHER L, GESCHWIND DH, GILBERT J, GILL M, GILLBERG C, GOLDBERG J, GREEN A, GREEN J, GUTER SJ, HAINES JL, HALLMAYER JF, HUS V, KLAUCK SM, KORVATSKA O, LAMB JA, LASKAWIEC M, LEBOYER M, COUTEUR AL, LEVENTHAL BL, LIU XQ, LORD C, LOTSPEICH LJ, MAESTRINI E, MAGALHAES T, MAHONEY W, MANTOULAN C, MCCONACHIE H, MCDOUGLE CJ, MCMAHON WM, MARSHALL CR, MILLER J, MINSHEW NJ, MONACO AP, MUNSON J, NURNBERGER JI JR, OLIVEIRA G, PAGNAMENTA A, PAPANIKOLAOU K, PARR JR, PATERSON AD, PERICAK-VANCE MA, PICKLES A, PINTO D, PIVEN J, POSEY DJ, POUSTKA A, POUSTKA F, REGAN R, REICHERT J, RENSHAW K, ROBERTS W, ROGE B, RUTTER ML, SALT J, SCHELLENBERG GD, SCHERER SW, SHEFFIELD V, SUTCLIFFE JS, SZATMARI P, TANSEY K, THOMPSON AP, TSIANTIS J, VAN ENGELAND H, VICENTE AM, VIELAND VJ, VOLKMAR F, WALLACE S, WASSINK TH, WIJSMAN EM, WING K, WITTEMEYER K, YASPAN BL, ZWAIGENBAUM L, MORROW EM, YOO SY, HILL RS, MUKADDES NM, BALKHY S, GASCON G, AL-SAAD S, HASHMI A, WARE J, JOSEPH RM, LECLAIR E, PARTLOW JN, BARRY B, WALSH CA, PAULS D, MOILANEN I, EBELING H, MATTILA ML, KUUSIKKO S, JUSSILA K, IGNATIUS J, SASANFAR R, TOLOUEI A, GHADAMI M, ROSTAMI M, HOSSEINIPOUR A, VALUJERDI M, SANTANGELO SL, ANDRESEN K, WINKLOSKI B, HADDAD S, KUNKEL L, KOHANE Z, TRAN T, KONG SW, O'NEIL SB, HANSON EM, HUNDLEY R, HOLM I, PETERS H, BARONI E, CANGIALOSE A, JACKSON L, ALBERS L, BECKER R, BRIDGEMOHAN C, FRIEDMAN S, MUNIR K, NAZIR R, PALFREY J, SCHONWALD A, SIMMONS E, RAPPAPORT LA, GAUTHIER J, MOTTRON L, JOOBER R, FOMBONNE E, ROULEAU G, REHNSTROM K, VON WENDT L, PELTONEN L.
A genome-wide scan for common alleles affecting risk for autism.
2010 Anney R; Klei L; Pinto D; Regan R; Conroy J; Magalhaes TR; Correia C; Abrahams BS; Sykes N; Pagnamenta AT; Almeida J; Bacchelli E; Bailey AJ; Baird G; Battaglia A; Berney T; Bolshakova N; Bölte S; Bolton PF; Bourgeron T; Brennan S; Brian J; Carson AR; Casallo G; Casey J; Chu SH; Cochrane L; Corsello C; Crawford EL; Crossett A; Dawson G; de Jonge M; Delorme R; Drmic I; Duketis E; Duque F; Estes A; Farrar P; Fernandez BA; Folstein SE; Fombonne E; Freitag CM; Gilbert J; Gillberg C; Glessner JT; Goldberg J; Green J; Guter SJ; Hakonarson H; Heron EA; Hill M; Holt R; Howe JL; Hughes G; Hus V; Igliozzi R; Kim C; Klauck SM; Kolevzon A; Korvatska O; Kustanovich V; Lajonchere CM; Lamb JA; Laskawiec M; Leboyer M; Le Couteur A; Leventhal BL; Lionel AC; Liu XQ; Lord C; Lotspeich L; Lund SC; Maestrini E; Mahoney W; Mantoulan C; Marshall CR; McConachie H; McDougle CJ; McGrath J; McMahon WM; Melhem NM; Merikangas A; Migita O; Minshew NJ; Mirza GK; Munson J; Nelson SF; Noakes C; Noor A; Nygren G; Oliveira G; Papanikolaou K; Parr JR; Parrini B; Paton T; Pickles A; Piven J; Posey DJ; Poustka A; Poustka F; Prasad A; Ragoussis J; Renshaw K; Rickaby J; Roberts W; Roeder K; Roge B; Rutter ML; Bierut LJ; Rice JP; Salt J; Sansom K; Sato D; Segurado R; Senman L; Shah N; Sheffield VC; Soorya L; Sousa I; Stoppioni V; Strawbridge C; Tancredi R; Tansey K; Thiruvahindrapduram B; Thompson AP; Thomson S; Tryfon A; Tsiantis J; Van Engeland H; Vincent JB; Volkmar F; Wallace S; Wang K; Wang Z; Wassink TH; Wing K; Wittemeyer K; Wood S; Yaspan BL; Zurawiecki D; Zwaigenbaum L; Betancur C; Buxbaum JD; Cantor RM; Cook EH; Coon H; Cuccaro ML; Gallagher L; Geschwind DH; Gill M; Haines JL; Miller J; Monaco AP; Nurnberger JI Jr; Paterson AD; Pericak-Vance MA; Schellenberg GD; Scherer SW; Sutcliffe JS; Szatmari P; Vicente AM; Vieland VJ; Wijsman EM; Devlin B; Ennis S; Hallmayer J.
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
2012 Casey JP; Magalhaes T; Conroy JM; Regan R; Shah N; Anney R; Shields DC; Abrahams BS; Almeida J; Bacchelli E; Bailey AJ; Baird G; Battaglia A; Berney T; Bolshakova N; Bolton PF; Bourgeron T; Brennan S; Cali P; Correia C; Corsello C; Coutanche M; Dawson G; de Jonge M; Delorme R; Duketis E; Duque F; Estes A; Farrar P; Fernandez BA; Folstein SE; Foley S; Fombonne E; Freitag CM; Gilbert J; Gillberg C; Glessner JT; Green J; Guter SJ; Hakonarson H; Holt R; Hughes G; Hus V; Igliozzi R; Kim C; Klauck SM; Kolevzon A; Lamb JA; Leboyer M; Le Couteur A; Leventhal BL; Lord C; Lund SC; Maestrini E; Mantoulan C; Marshall CR; McConachie H; McDougle CJ; McGrath J; McMahon WM; Merikangas A; Miller J; Minopoli F; Mirza GK; Munson J; Nelson SF; Nygren G; Oliveira G; Pagnamenta AT; Papanikolaou K; Parr JR; Parrini B; Pickles A; Pinto D; Piven J; Posey DJ; Poustka A; Poustka F; Ragoussis J; Roge B; Rutter ML; Sequeira AF; Soorya L; Sousa I; Sykes N; Stoppioni V; Tancredi R; Tauber M; Thompson AP; Thomson S; Tsiantis J; Van Engeland H; Vincent JB; Volkmar F; Vorstman JA; Wallace S; Wang K; Wassink TH; White K; Wing K; Wittemeyer K; Yaspan BL; Zwaigenbaum L; Betancur C; Buxbaum JD; Cantor RM; Cook EH; Coon H; Cuccaro ML; Geschwind DH; Haines JL; Hallmayer J; Monaco AP; Nurnberger JI Jr; Pericak-Vance MA; Schellenberg GD; Scherer SW; Sutcliffe JS; Szatmari P; Vieland VJ; Wijsman EM; Green A; Gill M; Gallagher L; Vicente A; Ennis S.
Absence of coding mutations in the X-linked genes Neuroligin 3 and Neuroligin 4 in individuals with autism from the IMGSAC collection
2006 Blasi F.; Bacchelli E.; Pesaresi G.; Carone S.; Bailey A.J.; Maestrini E.
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
2021 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 integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray
2020 Bacchelli, Elena; Cameli, Cinzia; Viggiano, Marta; Igliozzi, Roberta; Mancini, Alice; Tancredi, Raffaella; Battaglia, Agatino; Maestrini, Elena
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
2019 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 CHRNA7 rare variants in autism spectrum disorder susceptibility
2015 Bacchelli, Elena; Battaglia, Agatino; Cameli, Cinzia; Lomartire, Silvia; Tancredi, Raffaella; Thomson, Susanne; Sutcliffe, James S.; Maestrini, Elena
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects.
2005 Lamb J.A.; Barnby G.; Bonora E.; Sykes N.; Bacchelli E.; Blasi F.; Maestrini E.; Broxholme J.; Tzenova J.; Weeks D.; Bailey A.J.; Monaco A.P.; International Molecular Genetic Study of Autism Consortium (IMGSAC).
Analysis of shared heritability in common disorders of the brain
2018 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, Miriam; Silliman, Scott; Perica, Vesna Boraska; Thornton, Laura M.; Huckins, Laura M.; William Rayner, N.; Lewis, Cathryn M.; Gratacos, Monica; Rybakowski, Filip; Keski-Rahkonen, Anna; Raevuori, Anu; Hudson, James I.; Reichborn-Kjennerud, Ted; Monteleone, Palmiero; Karwautz, Andreas; Mannik, Katrin; Baker, Jessica H.; O'Toole, Julie K.; Trace, Sara E.; Davis, Oliver S. P.; Helder, Sietske G.; Ehrlich, Stefan; Herpertz-Dahlmann, Beate; Danner, Unna N.; Van Elburg, Annemarie A.; Clementi, Maurizio; Forzan, Monica; Docampo, Elisa; Lissowska, Jolanta; Hauser, Joanna; Tortorella, Alfonso; Maj, Mario; Gonidakis, Fragiskos; Tziouvas, Konstantinos; Papezova, Hana; Yilmaz, Zeynep; Wagner, Gudrun; Cohen-Woods, Sarah; Herms, Stefan; Julia, Antonio; Rabionet, Raquel; Dick, Danielle M.; Ripatti, Samuli; Andreassen, Ole A.; Espeseth, Thomas; Lundervold, Astri J.; Steen, Vidar M.; Pinto, Dalila; Scherer, Stephen W.; Aschauer, Harald; Schosser, Alexandra; Alfredsson, Lars; Padyukov, Leonid; Halmi, Katherine A.; Mitchell, James; Strober, Michael; Bergen, Andrew W.; Kaye, Walter; Szatkiewicz, Jin Peng; Cormand, Bru; Ramos-Quiroga, Josep Antoni; Sánchez-Mora, Cristina; Ribasés, Marta; Casas, Miguel; Hervas, Amaia; Arranz, Maria Jesús; Haavik, Jan; Zayats, Tetyana; Johansson, Stefan; Williams, Nigel; Dempfle, Astrid; Rothenberger, Aribert; Kuntsi, Jonna; Oades, Robert D.; Banaschewski, Tobias; Franke, Barbara; Buitelaar, Jan K.; Vasquez, Alejandro Arias; Doyle, Alysa E.; Reif, Andreas; Lesch, Klaus-Peter; Freitag, Christine; Rivero, Olga; Palmason, Haukur; Romanos, Marcel; Langley, Kate; Rietschel, Marcella; Witt, Stephanie H.; Dalsgaard, Soeren; Børglum, Anders D.; Waldman, Irwin; Wilmot, Beth; Molly, Nikolas; Bau, Claiton H.D.; Crosbie, Jennifer; Schachar, Russell; Loo, Sandra K.; McGough, James J.; Grevet, Eugenio H.; Medland, Sarah E.; Robinson, Elise; Weiss, Lauren A.; Bacchelli, Elena; Bailey, Anthony; Bal, Vanessa; Battaglia, Agatino; Betancur, Catalina; Bolton, Patrick; Cantor, Rita; Celestino-Soper, Patrícia; Dawson, Geraldine; De Rubeis, Silvia; Duque, Frederico; Green, Andrew; Klauck, Sabine M.; Leboyer, Marion; Levitt, Pat; Maestrini, Elena; Mane, Shrikant; Moreno-De-Luca, Daniel; Parr, Jeremy; Regan, Regina; Reichenberg, Abraham; Sandin, Sven; Vorstman, Jacob; Wassink, Thomas; Wijsman, Ellen; Cook, Edwin; Santangelo, Susan; Delorme, Richard; Roge, Bernadette; Magalhaes, Tiago; Arking, Dan; Schulze, Thomas G.; Thompson, Robert C.; Strohmaier, Jana; Matthews, Keith; Melle, Ingrid; Morris, Derek; Blackwood, Douglas; McIntosh, Andrew; Bergen, Sarah E.; Schalling, Martin; Jamain, Stéphane; Maaser, Anna; Fischer, Sascha B.; Reinbold, Céline S.; Fullerton, Janice M.; Guzman-Parra, José; Mayoral, Fermin; Schofield, Peter R.; Cichon, Sven; Mühleisen, Thomas W.; Degenhardt, Franziska; Schumacher, Johannes; Bauer, Michael; Mitchell, Philip B.; Gershon, Elliot S.; Rice, John; Potash, James B.; Zandi, Peter P.; Craddock, Nick; Nicol Ferrier, I.; Alda, Martin; Rouleau, Guy A.; Turecki, Gustavo; Ophoff, Roel; Pato, Carlos; Anjorin, Adebayo; Stahl, Eli; Leber, Markus; Czerski, Piotr M.; Cruceanu, Cristiana; Jones, Ian R.; Posthuma, Danielle; Andlauer, Till F.M.; Forstner, Andreas J.; Streit, Fabian; Baune, Bernhard T.; Air, Tracy; Sinnamon, Grant; Wray, Naomi R.; MacIntyre, Donald J.; Porteous, David; Homuth, Georg; Rivera, Margarita; Grove, Jakob; Middeldorp, Christel M.; Hickie, Ian; Pergadia, Michele; Mehta, Divya; Smit, Johannes H.; Jansen, Rick; De Geus, Eco; Dunn, Erin; Li, Qingqin S.; Nauck, Matthias; Schoevers, Robert A.; Beekman, Aartjan TF; Knowles, James A.; Viktorin, Alexander; Arnold, Paul; Barr, Cathy L.; Bedoya-Berrio, Gabriel; Joseph Bienvenu, O.; Brentani, Helena; Burton, Christie; Camarena, Beatriz; Cappi, Carolina; Cath, Danielle; Cavallini, Maria; Cusi, Daniele; Darrow, Sabrina; Denys, Damiaan; Derks, Eske M.; Dietrich, Andrea; Fernandez, Thomas; Figee, Martijn; Freimer, Nelson; Gerber, Gloria; Grados, Marco; Greenberg, Erica; Hanna, Gregory L.; Hartmann, Andreas; Hirschtritt, Matthew E.; Hoekstra, Pieter J.; Huang, Alden; Huyser, Chaim; Illmann, Cornelia; Jenike, Michael; Kuperman, Samuel; Leventhal, Bennett; Lochner, Christine; Lyon, Gholson J.; Macciardi, Fabio; Madruga-Garrido, Marcos; Malaty, Irene A.; Maras, Athanasios; McGrath, Lauren; Miguel, Eurípedes C.; Mir, Pablo; Nestadt, Gerald; Nicolini, Humberto; Okun, Michael S.; Pakstis, Andrew; Paschou, Peristera; Piacentini, John; Pittenger, Christopher; Plessen, Kerstin; Ramensky, Vasily; Ramos, Eliana M.; Reus, Victor; Richter, Margaret A.; Riddle, Mark A.; Robertson, Mary M.; Roessner, Veit; Rosário, Maria; Samuels, Jack F.; Sandor, Paul; Stein, Dan J.; Tsetsos, Fotis; Van Nieuwerburgh, Filip; Weatherall, Sarah; Wendland, Jens R.; Wolanczyk, Tomasz; Worbe, Yulia; Zai, Gwyneth; Goes, Fernando S.; McLaughlin, Nicole; Nestadt, Paul S.; Grabe, Hans-Jorgen; Depienne, Christel; Konkashbaev, Anuar; Lanzagorta, Nuria; Valencia-Duarte, Ana; Bramon, Elvira; Buccola, Nancy; Cahn, Wiepke; Cairns, Murray; Chong, Siow A.; Cohen, David; Crespo-Facorro, Benedicto; Crowley, James; Davidson, Michael; DeLisi, Lynn; Dinan, Timothy; Donohoe, Gary; Drapeau, Elodie; Duan, Jubao; Haan, Lieuwe; Hougaard, David; Karachanak-Yankova, Sena; Khrunin, Andrey; Klovins, Janis; Kučinskas, Vaidutis; Keong, Jimmy Lee Chee; Limborska, Svetlana; Loughland, Carmel; Lönnqvist, Jouko; Maher, Brion; Mattheisen, Manuel; McDonald, Colm; Murphy, Kieran C.; Nenadic, Igor; Van Os, Jim; Pantelis, Christos; Pato, Michele; Petryshen, Tracey; Quested, Digby; Roussos, Panos; Sanders, Alan R.; Schall, Ulrich; Schwab, Sibylle G.; Sim, Kang; So, Hon-Cheong; Stögmann, Elisabeth; Subramaniam, Mythily; Toncheva, Draga; Waddington, John; Walters, James; Weiser, Mark; Cheng, Wei; Cloninger, Robert; Curtis, David; Gejman, Pablo V.; Henskens, Frans; Mattingsdal, Morten; Oh, Sang-Yun; Scott, Rodney; Webb, Bradley; Breen, Gerome; Churchhouse, Claire; Bulik, Cynthia M.; Daly, Mark; Dichgans, Martin; Faraone, Stephen V.; Guerreiro, Rita; Holmans, Peter; Kendler, Kenneth S.; Koeleman, Bobby; Mathews, Carol A.; Price, Alkes; Scharf, Jeremiah; Sklar, Pamela; Williams, Julie; Wood, Nicholas W.; Cotsapas, Chris; Palotie, Aarno; Smoller, Jordan W.; Sullivan, Patrick; Rosand, Jonathan; Corvin, Aiden; Neale, Benjamin M.
Analysis of X chromosome inactivation in autism spectrum disorders.
2008 Gong X; Bacchelli E; Blasi F; Toma C; Betancur C; Chaste P; Delorme R; Durand CM; Fauchereau F; Botros HG; Leboyer M; Mouren-Simeoni MC; Nygren G; Anckarsäter H; Rastam M; Gillberg IC; Gillberg C; Moreno-De-Luca D; Carone S; Nummela I; Rossi M; Battaglia A; International Molecular Genetic Study of Autism Consortium (IMGSAC); Jarvela I; Maestrini E; Bourgeron T.
Autism spectrum disorders: molecular genetic advances
2006 Bacchelli E.; Maestrini E.
Brain magnetic resonance findings in 117 children with autism spectrum disorder under 5 years old.
2020 Magali Jane Rochat, Giacomo Distefano, Monica Maffei, Francesco Toni, Annio Posar, Maria Cristina Scaduto, Federica Resca, Cinzia Cameli, Elena Bacchelli, Elena Maestrini, Paola Visconti
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.
2010 Pagnamenta AT; Bacchelli E; de Jonge MV; Mirza G; Scerri TS; Minopoli F; Chiocchetti A; Ludwig KU; Hoffmann P; Paracchini S; Lowy E; Harold DH; Chapman JA; Klauck SM; Poustka F; Houben RH; Staal WG; Ophoff RA; O'Donovan MC; Williams J; Nöthen MM; Schulte-Körne G; Deloukas P; Ragoussis J; Bailey AJ; Maestrini E; Monaco AP; International Molecular Genetic Study Of Autism Consortium
Contribution of CACNA1H variants in Autism Spectrum Disorder Susceptibility
2022 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
2022 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 common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability
2015 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
Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
---|---|---|---|---|---|---|
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder. | Bacchelli E;Ceroni F;Pinto D;Lomartire S;Giannandrea M;D'Adamo P;Bonora E;Parchi P;Tancredi R;Bat...taglia A;Maestrini E | 2014-01-01 | JOURNAL OF NEURODEVELOPMENTAL DISORDERS | - | 1.01 Articolo in rivista | 1866-1955-6-17.pdf |
A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma. | 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 | 2014-01-01 | AUTISM RESEARCH | - | 1.01 Articolo in rivista | - |
A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants | Bacchelli, Elena; Cainazzo, Maria Michela; Cameli, Cinzia; Guerzoni, Simona; Martinelli, Angela; ...Zoli, Michele; Maestrini, Elena; Pini, Luigi Alberto | 2016-01-01 | THE JOURNAL OF HEADACHE AND PAIN | - | 1.01 Articolo in rivista | Bacchelli_CH_TJHP.pdf |
A genome-wide linkage and association scan reveals novel loci for autism. | WEISS LA, ARKING DE; GENE DISCOVERY PROJECT OF JOHNS HOPKINS & THE AUTISM CONSORTIUM, DALY MJ, CH...AKRAVARTI A, BRUNE CW, WEST K, O'CONNOR A, HILTON G, TOMLINSON RL, WEST AB, COOK EH JR, CHAKRAVARTI A, WEISS LA, GREEN T, CHANG SC, GABRIEL S, GATES C, HANSON EM, KIRBY A, KORN J, KURUVILLA F, MCCARROLL S, MORROW EM, NEALE B, PURCELL S, SASANFAR R, SOUGNEZ C, STEVENS C, ALTSHULER D, GUSELLA J, SANTANGELO SL, SKLAR P, TANZI R, DALY MJ, ANNEY R, BAILEY AJ, BAIRD G, BATTAGLIA A, BERNEY T, BETANCUR C, BÖLTE S, BOLTON PF, BRIAN J, BRYSON SE, BUXBAUM JD, CABRITO I, CAI G, CANTOR RM, COOK EH JR, COON H, CONROY J, CORREIA C, CORSELLO C, CRAWFORD EL, CUCCARO ML, DAWSON G, DE JONGE M, DEVLIN B, DUKETIS E, ENNIS S, ESTES A, FARRAR P, FOMBONNE E, FREITAG CM, GALLAGHER L, GESCHWIND DH, GILBERT J, GILL M, GILLBERG C, GOLDBERG J, GREEN A, GREEN J, GUTER SJ, HAINES JL, HALLMAYER JF, HUS V, KLAUCK SM, KORVATSKA O, LAMB JA, LASKAWIEC M, LEBOYER M, COUTEUR AL, LEVENTHAL BL, LIU XQ, LORD C, LOTSPEICH LJ, MAESTRINI E, MAGALHAES T, MAHONEY W, MANTOULAN C, MCCONACHIE H, MCDOUGLE CJ, MCMAHON WM, MARSHALL CR, MILLER J, MINSHEW NJ, MONACO AP, MUNSON J, NURNBERGER JI JR, OLIVEIRA G, PAGNAMENTA A, PAPANIKOLAOU K, PARR JR, PATERSON AD, PERICAK-VANCE MA, PICKLES A, PINTO D, PIVEN J, POSEY DJ, POUSTKA A, POUSTKA F, REGAN R, REICHERT J, RENSHAW K, ROBERTS W, ROGE B, RUTTER ML, SALT J, SCHELLENBERG GD, SCHERER SW, SHEFFIELD V, SUTCLIFFE JS, SZATMARI P, TANSEY K, THOMPSON AP, TSIANTIS J, VAN ENGELAND H, VICENTE AM, VIELAND VJ, VOLKMAR F, WALLACE S, WASSINK TH, WIJSMAN EM, WING K, WITTEMEYER K, YASPAN BL, ZWAIGENBAUM L, MORROW EM, YOO SY, HILL RS, MUKADDES NM, BALKHY S, GASCON G, AL-SAAD S, HASHMI A, WARE J, JOSEPH RM, LECLAIR E, PARTLOW JN, BARRY B, WALSH CA, PAULS D, MOILANEN I, EBELING H, MATTILA ML, KUUSIKKO S, JUSSILA K, IGNATIUS J, SASANFAR R, TOLOUEI A, GHADAMI M, ROSTAMI M, HOSSEINIPOUR A, VALUJERDI M, SANTANGELO SL, ANDRESEN K, WINKLOSKI B, HADDAD S, KUNKEL L, KOHANE Z, TRAN T, KONG SW, O'NEIL SB, HANSON EM, HUNDLEY R, HOLM I, PETERS H, BARONI E, CANGIALOSE A, JACKSON L, ALBERS L, BECKER R, BRIDGEMOHAN C, FRIEDMAN S, MUNIR K, NAZIR R, PALFREY J, SCHONWALD A, SIMMONS E, RAPPAPORT LA, GAUTHIER J, MOTTRON L, JOOBER R, FOMBONNE E, ROULEAU G, REHNSTROM K, VON WENDT L, PELTONEN L. | 2009-01-01 | NATURE | - | 1.01 Articolo in rivista | - |
A genome-wide scan for common alleles affecting risk for autism. | Anney R; Klei L; Pinto D; Regan R; Conroy J; Magalhaes TR; Correia C; Abrahams BS; Sykes N; Pagna...menta AT; Almeida J; Bacchelli E; Bailey AJ; Baird G; Battaglia A; Berney T; Bolshakova N; Bölte S; Bolton PF; Bourgeron T; Brennan S; Brian J; Carson AR; Casallo G; Casey J; Chu SH; Cochrane L; Corsello C; Crawford EL; Crossett A; Dawson G; de Jonge M; Delorme R; Drmic I; Duketis E; Duque F; Estes A; Farrar P; Fernandez BA; Folstein SE; Fombonne E; Freitag CM; Gilbert J; Gillberg C; Glessner JT; Goldberg J; Green J; Guter SJ; Hakonarson H; Heron EA; Hill M; Holt R; Howe JL; Hughes G; Hus V; Igliozzi R; Kim C; Klauck SM; Kolevzon A; Korvatska O; Kustanovich V; Lajonchere CM; Lamb JA; Laskawiec M; Leboyer M; Le Couteur A; Leventhal BL; Lionel AC; Liu XQ; Lord C; Lotspeich L; Lund SC; Maestrini E; Mahoney W; Mantoulan C; Marshall CR; McConachie H; McDougle CJ; McGrath J; McMahon WM; Melhem NM; Merikangas A; Migita O; Minshew NJ; Mirza GK; Munson J; Nelson SF; Noakes C; Noor A; Nygren G; Oliveira G; Papanikolaou K; Parr JR; Parrini B; Paton T; Pickles A; Piven J; Posey DJ; Poustka A; Poustka F; Prasad A; Ragoussis J; Renshaw K; Rickaby J; Roberts W; Roeder K; Roge B; Rutter ML; Bierut LJ; Rice JP; Salt J; Sansom K; Sato D; Segurado R; Senman L; Shah N; Sheffield VC; Soorya L; Sousa I; Stoppioni V; Strawbridge C; Tancredi R; Tansey K; Thiruvahindrapduram B; Thompson AP; Thomson S; Tryfon A; Tsiantis J; Van Engeland H; Vincent JB; Volkmar F; Wallace S; Wang K; Wang Z; Wassink TH; Wing K; Wittemeyer K; Wood S; Yaspan BL; Zurawiecki D; Zwaigenbaum L; Betancur C; Buxbaum JD; Cantor RM; Cook EH; Coon H; Cuccaro ML; Gallagher L; Geschwind DH; Gill M; Haines JL; Miller J; Monaco AP; Nurnberger JI Jr; Paterson AD; Pericak-Vance MA; Schellenberg GD; Scherer SW; Sutcliffe JS; Szatmari P; Vicente AM; Vieland VJ; Wijsman EM; Devlin B; Ennis S; Hallmayer J. | 2010-01-01 | HUMAN MOLECULAR GENETICS | - | 1.01 Articolo in rivista | - |
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. | Casey JP; Magalhaes T; Conroy JM; Regan R; Shah N; Anney R; Shields DC; Abrahams BS; Almeida J; B...acchelli E; Bailey AJ; Baird G; Battaglia A; Berney T; Bolshakova N; Bolton PF; Bourgeron T; Brennan S; Cali P; Correia C; Corsello C; Coutanche M; Dawson G; de Jonge M; Delorme R; Duketis E; Duque F; Estes A; Farrar P; Fernandez BA; Folstein SE; Foley S; Fombonne E; Freitag CM; Gilbert J; Gillberg C; Glessner JT; Green J; Guter SJ; Hakonarson H; Holt R; Hughes G; Hus V; Igliozzi R; Kim C; Klauck SM; Kolevzon A; Lamb JA; Leboyer M; Le Couteur A; Leventhal BL; Lord C; Lund SC; Maestrini E; Mantoulan C; Marshall CR; McConachie H; McDougle CJ; McGrath J; McMahon WM; Merikangas A; Miller J; Minopoli F; Mirza GK; Munson J; Nelson SF; Nygren G; Oliveira G; Pagnamenta AT; Papanikolaou K; Parr JR; Parrini B; Pickles A; Pinto D; Piven J; Posey DJ; Poustka A; Poustka F; Ragoussis J; Roge B; Rutter ML; Sequeira AF; Soorya L; Sousa I; Sykes N; Stoppioni V; Tancredi R; Tauber M; Thompson AP; Thomson S; Tsiantis J; Van Engeland H; Vincent JB; Volkmar F; Vorstman JA; Wallace S; Wang K; Wassink TH; White K; Wing K; Wittemeyer K; Yaspan BL; Zwaigenbaum L; Betancur C; Buxbaum JD; Cantor RM; Cook EH; Coon H; Cuccaro ML; Geschwind DH; Haines JL; Hallmayer J; Monaco AP; Nurnberger JI Jr; Pericak-Vance MA; Schellenberg GD; Scherer SW; Sutcliffe JS; Szatmari P; Vieland VJ; Wijsman EM; Green A; Gill M; Gallagher L; Vicente A; Ennis S. | 2012-01-01 | HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
Absence of coding mutations in the X-linked genes Neuroligin 3 and Neuroligin 4 in individuals with autism from the IMGSAC collection | Blasi F.; Bacchelli E.; Pesaresi G.; Carone S.; Bailey A.J.; Maestrini E. | 2006-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS | - | 1.01 Articolo in rivista | - |
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. | 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. | 2021-01-01 | JOURNAL OF CELLULAR AND MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | jcmm.16161.pdf |
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray | Bacchelli, Elena; Cameli, Cinzia; Viggiano, Marta; Igliozzi, Roberta; Mancini, Alice; Tancredi, R...affaella; Battaglia, Agatino; Maestrini, Elena | 2020-01-01 | SCIENTIFIC REPORTS | - | 1.01 Articolo in rivista | Bacchelli_PsychArray_sr20.pdf |
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 | Bacchelli, Elena; Loi, Eleonora; Cameli, Cinzia; Moi, Loredana; Benedetti, Ana Florencia Vega; Bl...ois, Sylvain; Fadda, Antonio; Bonora, Elena; Mattu, Sandra; Fadda, Roberta; Chessa, Rita; Maestrini, Elena; Doneddu, Giuseppe; Zavattari, Patrizia | 2019-01-01 | JOURNAL OF CLINICAL MEDICINE | - | 1.01 Articolo in rivista | Bacchelli_CAPG_ jcm19.pdf |
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility | Bacchelli, Elena; Battaglia, Agatino; Cameli, Cinzia; Lomartire, Silvia; Tancredi, Raffaella; Tho...mson, Susanne; Sutcliffe, James S.; Maestrini, Elena | 2015-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. | Lamb J.A.; Barnby G.; Bonora E.; Sykes N.; Bacchelli E.; Blasi F.; Maestrini E.; Broxholme J.; Tz...enova J.; Weeks D.; Bailey A.J.; Monaco A.P.; International Molecular Genetic Study of Autism Consortium (IMGSAC). | 2005-01-01 | JOURNAL OF MEDICAL GENETICS | - | 1.01 Articolo in rivista | - |
Analysis of shared heritability in common disorders of the brain | 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, Miriam; Silliman, Scott; Perica, Vesna Boraska; Thornton, Laura M.; Huckins, Laura M.; William Rayner, N.; Lewis, Cathryn M.; Gratacos, Monica; Rybakowski, Filip; Keski-Rahkonen, Anna; Raevuori, Anu; Hudson, James I.; Reichborn-Kjennerud, Ted; Monteleone, Palmiero; Karwautz, Andreas; Mannik, Katrin; Baker, Jessica H.; O'Toole, Julie K.; Trace, Sara E.; Davis, Oliver S. P.; Helder, Sietske G.; Ehrlich, Stefan; Herpertz-Dahlmann, Beate; Danner, Unna N.; Van Elburg, Annemarie A.; Clementi, Maurizio; Forzan, Monica; Docampo, Elisa; Lissowska, Jolanta; Hauser, Joanna; Tortorella, Alfonso; Maj, Mario; Gonidakis, Fragiskos; Tziouvas, Konstantinos; Papezova, Hana; Yilmaz, Zeynep; Wagner, Gudrun; Cohen-Woods, Sarah; Herms, Stefan; Julia, Antonio; Rabionet, Raquel; Dick, Danielle M.; Ripatti, Samuli; Andreassen, Ole A.; Espeseth, Thomas; Lundervold, Astri J.; Steen, Vidar M.; Pinto, Dalila; Scherer, Stephen W.; Aschauer, Harald; Schosser, Alexandra; Alfredsson, Lars; Padyukov, Leonid; Halmi, Katherine A.; Mitchell, James; Strober, Michael; Bergen, Andrew W.; Kaye, Walter; Szatkiewicz, Jin Peng; Cormand, Bru; Ramos-Quiroga, Josep Antoni; Sánchez-Mora, Cristina; Ribasés, Marta; Casas, Miguel; Hervas, Amaia; Arranz, Maria Jesús; Haavik, Jan; Zayats, Tetyana; Johansson, Stefan; Williams, Nigel; Dempfle, Astrid; Rothenberger, Aribert; Kuntsi, Jonna; Oades, Robert D.; Banaschewski, Tobias; Franke, Barbara; Buitelaar, Jan K.; Vasquez, Alejandro Arias; Doyle, Alysa E.; Reif, Andreas; Lesch, Klaus-Peter; Freitag, Christine; Rivero, Olga; Palmason, Haukur; Romanos, Marcel; Langley, Kate; Rietschel, Marcella; Witt, Stephanie H.; Dalsgaard, Soeren; Børglum, Anders D.; Waldman, Irwin; Wilmot, Beth; Molly, Nikolas; Bau, Claiton H.D.; Crosbie, Jennifer; Schachar, Russell; Loo, Sandra K.; McGough, James J.; Grevet, Eugenio H.; Medland, Sarah E.; Robinson, Elise; Weiss, Lauren A.; Bacchelli, Elena; Bailey, Anthony; Bal, Vanessa; Battaglia, Agatino; Betancur, Catalina; Bolton, Patrick; Cantor, Rita; Celestino-Soper, Patrícia; Dawson, Geraldine; De Rubeis, Silvia; Duque, Frederico; Green, Andrew; Klauck, Sabine M.; Leboyer, Marion; Levitt, Pat; Maestrini, Elena; Mane, Shrikant; Moreno-De-Luca, Daniel; Parr, Jeremy; Regan, Regina; Reichenberg, Abraham; Sandin, Sven; Vorstman, Jacob; Wassink, Thomas; Wijsman, Ellen; Cook, Edwin; Santangelo, Susan; Delorme, Richard; Roge, Bernadette; Magalhaes, Tiago; Arking, Dan; Schulze, Thomas G.; Thompson, Robert C.; Strohmaier, Jana; Matthews, Keith; Melle, Ingrid; Morris, Derek; Blackwood, Douglas; McIntosh, Andrew; Bergen, Sarah E.; Schalling, Martin; Jamain, Stéphane; Maaser, Anna; Fischer, Sascha B.; Reinbold, Céline S.; Fullerton, Janice M.; Guzman-Parra, José; Mayoral, Fermin; Schofield, Peter R.; Cichon, Sven; Mühleisen, Thomas W.; Degenhardt, Franziska; Schumacher, Johannes; Bauer, Michael; Mitchell, Philip B.; Gershon, Elliot S.; Rice, John; Potash, James B.; Zandi, Peter P.; Craddock, Nick; Nicol Ferrier, I.; Alda, Martin; Rouleau, Guy A.; Turecki, Gustavo; Ophoff, Roel; Pato, Carlos; Anjorin, Adebayo; Stahl, Eli; Leber, Markus; Czerski, Piotr M.; Cruceanu, Cristiana; Jones, Ian R.; Posthuma, Danielle; Andlauer, Till F.M.; Forstner, Andreas J.; Streit, Fabian; Baune, Bernhard T.; Air, Tracy; Sinnamon, Grant; Wray, Naomi R.; MacIntyre, Donald J.; Porteous, David; Homuth, Georg; Rivera, Margarita; Grove, Jakob; Middeldorp, Christel M.; Hickie, Ian; Pergadia, Michele; Mehta, Divya; Smit, Johannes H.; Jansen, Rick; De Geus, Eco; Dunn, Erin; Li, Qingqin S.; Nauck, Matthias; Schoevers, Robert A.; Beekman, Aartjan TF; Knowles, James A.; Viktorin, Alexander; Arnold, Paul; Barr, Cathy L.; Bedoya-Berrio, Gabriel; Joseph Bienvenu, O.; Brentani, Helena; Burton, Christie; Camarena, Beatriz; Cappi, Carolina; Cath, Danielle; Cavallini, Maria; Cusi, Daniele; Darrow, Sabrina; Denys, Damiaan; Derks, Eske M.; Dietrich, Andrea; Fernandez, Thomas; Figee, Martijn; Freimer, Nelson; Gerber, Gloria; Grados, Marco; Greenberg, Erica; Hanna, Gregory L.; Hartmann, Andreas; Hirschtritt, Matthew E.; Hoekstra, Pieter J.; Huang, Alden; Huyser, Chaim; Illmann, Cornelia; Jenike, Michael; Kuperman, Samuel; Leventhal, Bennett; Lochner, Christine; Lyon, Gholson J.; Macciardi, Fabio; Madruga-Garrido, Marcos; Malaty, Irene A.; Maras, Athanasios; McGrath, Lauren; Miguel, Eurípedes C.; Mir, Pablo; Nestadt, Gerald; Nicolini, Humberto; Okun, Michael S.; Pakstis, Andrew; Paschou, Peristera; Piacentini, John; Pittenger, Christopher; Plessen, Kerstin; Ramensky, Vasily; Ramos, Eliana M.; Reus, Victor; Richter, Margaret A.; Riddle, Mark A.; Robertson, Mary M.; Roessner, Veit; Rosário, Maria; Samuels, Jack F.; Sandor, Paul; Stein, Dan J.; Tsetsos, Fotis; Van Nieuwerburgh, Filip; Weatherall, Sarah; Wendland, Jens R.; Wolanczyk, Tomasz; Worbe, Yulia; Zai, Gwyneth; Goes, Fernando S.; McLaughlin, Nicole; Nestadt, Paul S.; Grabe, Hans-Jorgen; Depienne, Christel; Konkashbaev, Anuar; Lanzagorta, Nuria; Valencia-Duarte, Ana; Bramon, Elvira; Buccola, Nancy; Cahn, Wiepke; Cairns, Murray; Chong, Siow A.; Cohen, David; Crespo-Facorro, Benedicto; Crowley, James; Davidson, Michael; DeLisi, Lynn; Dinan, Timothy; Donohoe, Gary; Drapeau, Elodie; Duan, Jubao; Haan, Lieuwe; Hougaard, David; Karachanak-Yankova, Sena; Khrunin, Andrey; Klovins, Janis; Kučinskas, Vaidutis; Keong, Jimmy Lee Chee; Limborska, Svetlana; Loughland, Carmel; Lönnqvist, Jouko; Maher, Brion; Mattheisen, Manuel; McDonald, Colm; Murphy, Kieran C.; Nenadic, Igor; Van Os, Jim; Pantelis, Christos; Pato, Michele; Petryshen, Tracey; Quested, Digby; Roussos, Panos; Sanders, Alan R.; Schall, Ulrich; Schwab, Sibylle G.; Sim, Kang; So, Hon-Cheong; Stögmann, Elisabeth; Subramaniam, Mythily; Toncheva, Draga; Waddington, John; Walters, James; Weiser, Mark; Cheng, Wei; Cloninger, Robert; Curtis, David; Gejman, Pablo V.; Henskens, Frans; Mattingsdal, Morten; Oh, Sang-Yun; Scott, Rodney; Webb, Bradley; Breen, Gerome; Churchhouse, Claire; Bulik, Cynthia M.; Daly, Mark; Dichgans, Martin; Faraone, Stephen V.; Guerreiro, Rita; Holmans, Peter; Kendler, Kenneth S.; Koeleman, Bobby; Mathews, Carol A.; Price, Alkes; Scharf, Jeremiah; Sklar, Pamela; Williams, Julie; Wood, Nicholas W.; Cotsapas, Chris; Palotie, Aarno; Smoller, Jordan W.; Sullivan, Patrick; Rosand, Jonathan; Corvin, Aiden; Neale, Benjamin M. | 2018-01-01 | SCIENCE | - | 1.01 Articolo in rivista | Brainstorm nihms-979389_copertina(4).pdf |
Analysis of X chromosome inactivation in autism spectrum disorders. | Gong X; Bacchelli E; Blasi F; Toma C; Betancur C; Chaste P; Delorme R; Durand CM; Fauchereau F; B...otros HG; Leboyer M; Mouren-Simeoni MC; Nygren G; Anckarsäter H; Rastam M; Gillberg IC; Gillberg C; Moreno-De-Luca D; Carone S; Nummela I; Rossi M; Battaglia A; International Molecular Genetic Study of Autism Consortium (IMGSAC); Jarvela I; Maestrini E; Bourgeron T. | 2008-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS | - | 1.01 Articolo in rivista | - |
Autism spectrum disorders: molecular genetic advances | Bacchelli E.; Maestrini E. | 2006-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS | - | 1.01 Articolo in rivista | - |
Brain magnetic resonance findings in 117 children with autism spectrum disorder under 5 years old. | Magali Jane Rochat, Giacomo Distefano, Monica Maffei, Francesco Toni, Annio Posar, Maria Cristina... Scaduto, Federica Resca, Cinzia Cameli, Elena Bacchelli, Elena Maestrini, Paola Visconti | 2020-01-01 | BRAIN SCIENCES | - | 1.01 Articolo in rivista | brainsci-10-00741.pdf; brainsci-10-00741-s001.pdf |
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. | Pagnamenta AT; Bacchelli E; de Jonge MV; Mirza G; Scerri TS; Minopoli F; Chiocchetti A; Ludwig KU...; Hoffmann P; Paracchini S; Lowy E; Harold DH; Chapman JA; Klauck SM; Poustka F; Houben RH; Staal WG; Ophoff RA; O'Donovan MC; Williams J; Nöthen MM; Schulte-Körne G; Deloukas P; Ragoussis J; Bailey AJ; Maestrini E; Monaco AP; International Molecular Genetic Study Of Autism Consortium | 2010-01-01 | BIOLOGICAL PSYCHIATRY | - | 1.01 Articolo in rivista | - |
Contribution of CACNA1H variants in Autism Spectrum Disorder Susceptibility |
Marta Viggiano, Tiziano D’Andrea, Cinzia Cameli, Annio Posar, Paola Visconti, Maria Cristina Scad...uto, Roberta Colucci, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Elena Maestrini, Elena Bacchelli |
2022-01-01 | - | - | 4.02 Riassunto (Abstract) | - |
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility | 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 | 2022-01-01 | FRONTIERS IN PSYCHIATRY | - | 1.01 Articolo in rivista | Viggiano et al.pdf; Data-Sheet_1.pdf |
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability | Torrico, Bàrbara; Fernàndez-Castillo, Noèlia; Hervás, Amaia; Milà, Montserrat; Salgado, Marta; Ru...eda, 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 | 2015-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |