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Elena Bacchelli
Researcher at University of Bologna
Publications - 9
Citations - 1842
Elena Bacchelli is an academic researcher from University of Bologna. The author has contributed to research in topics: Autism & Heritability of autism. The author has an hindex of 8, co-authored 9 publications receiving 1794 citations.
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Journal ArticleDOI
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Peter Szatmari,Andrew D. Paterson,Lonnie Zwaigenbaum,Wendy Roberts,Jessica Brian,Xiao-Qing Liu,John B. Vincent,Jennifer Skaug,Ann P. Thompson,Lili Senman,Lars Feuk,Cheng Qian,Susan E. Bryson,Marshall B. Jones,Christian R. Marshall,Stephen W. Scherer,Veronica J. Vieland,Christopher W. Bartlett,La Vonne Mangin,Rhinda Goedken,Alberto M. Segre,Margaret A. Pericak-Vance,Michael L. Cuccaro,John R. Gilbert,Harry H. Wright,Ruth K. Abramson,Catalina Betancur,Thomas Bourgeron,Christopher Gillberg,Marion Leboyer,Joseph D. Buxbaum,Kenneth L. Davis,Eric Hollander,Jeremy M. Silverman,Joachim Hallmayer,Linda Lotspeich,James S. Sutcliffe,Jonathan L. Haines,Susan E. Folstein,Joseph Piven,Thomas H. Wassink,Val C. Sheffield,Daniel H. Geschwind,Maja Bucan,W. Ted Brown,Rita M. Cantor,John N. Constantino,T. Conrad Gilliam,Martha R. Herbert,Clara Lajonchere,David H. Ledbetter,Christa Lese-Martin,Janet Miller,Stan F. Nelson,Carol A. Samango-Sprouse,Sarah J. Spence,Matthew W. State,Rudolph E. Tanzi,Hilary Coon,Geraldine Dawson,Bernie Devlin,Annette Estes,Pamela Flodman,Lambertus Klei,William M. McMahon,Nancy J. Minshew,Jeff Munson,Elena Korvatska,Elena Korvatska,Patricia M. Rodier,Gerard D. Schellenberg,Gerard D. Schellenberg,Moyra Smith,M. Anne Spence,Christopher J. Stodgell,Ping Guo Tepper,Ellen M. Wijsman,Chang En Yu,Chang En Yu,Bernadette Rogé,Carine Mantoulan,Kerstin Wittemeyer,Annemarie Poustka,Bärbel Felder,Sabine M. Klauck,Claudia Schuster,Fritz Poustka,Sven Bölte,Sabine Feineis-Matthews,Evelyn Herbrecht,Gabi Schmötzer,John Tsiantis,Katerina Papanikolaou,Elena Maestrini,Elena Bacchelli,Francesca Blasi,Simona Carone,Claudio Toma,Herman van Engeland,Maretha de Jonge,Chantal Kemner,Frederike Koop,Marjolijn Langemeijer,Channa Hijimans,Wouter G. Staal,Gillian Baird,Patrick Bolton,Michael Rutter,Emma Weisblatt,Jonathan Green,Catherine Aldred,Julie Anne Wilkinson,Andrew Pickles,Ann Le Couteur,Tom Berney,Helen McConachie,Anthony J. Bailey,Kostas Francis,Gemma Honeyman,Aislinn Hutchinson,Jeremy R. Parr,Simon Wallace,Anthony P. Monaco,Gabrielle Barnby,Kazuhiro Kobayashi,Janine A. Lamb,Inês Sousa,Nuala Sykes,Edwin H. Cook,Stephen J. Guter,Bennett L. Leventhal,Jeff Salt,Catherine Lord,Christina Corsello,Vanessa Hus,Daniel E. Weeks,Fred R. Volkmar,Maïté Tauber,Eric Fombonne,Andy Shih +139 more
TL;DR: Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
Journal ArticleDOI
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects
Janine A. Lamb,Gabrielle Barnby,Elena Bonora,Nuala Sykes,Elena Bacchelli,Francesca Blasi,Elena Maestrini,J Broxholme,J Tzenova,Daniel E. Weeks,Anthony J. Bailey,Anthony P. Monaco +11 more
TL;DR: Analysis of an expanded sample of 219 affected sibling pairs suggests the possibility of two discrete loci underlying linkage of autism to chromosome 7, and implicate possible parent of origin specific effects in the aetiology of autism.
Journal ArticleDOI
Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection.
Francesca Blasi,Elena Bacchelli,Giulia Pesaresi,Simona Carone,Anthony J. Bailey,Elena Maestrini +5 more
TL;DR: The data indicate that coding mutations in these genes are very rarely associated to ASD, and a new non‐synonymous variant in NLGN3 (Thr632Ala), which is likely to be a rare polymorphism is identified.
Journal ArticleDOI
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q
Elena Bonora,Janine A. Lamb,Gabrielle Barnby,Nuala Sykes,Thomas Moberly,Kim S. Beyer,Sabine M. Klauck,Firtz Poustka,Elena Bacchelli,Francesca Blasi,Elena Maestrini,Agatino Battaglia,Demetrios Haracopos,Lennart Pedersen,Torben Isager,Gunna Eriksen,Birgitte Viskum,Ester Ulsted Sorensen,Karen Brøndum-Nielsen,Rodney M. J. Cotterill,Herman von Engeland,Maretha de Jonge,Chantal Kemner,Karlijn Steggehuis,Margret Scherpenisse,Michael Rutter,Patrick Bolton,Jeremy R. Parr,Annemarie Poustka,Anthony J. Bailey,Anthony P. Monaco +30 more
TL;DR: Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant.
Journal ArticleDOI
Autism spectrum disorders: molecular genetic advances.
Elena Bacchelli,Elena Maestrini +1 more
TL;DR: How recent technological and bioinformatic advances have set the stage to perform more comprehensive and well powered studies, possibly leading to a turning point in the understanding of the genetic basis of this devastating disorder is outlined.