An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray

por Bacchelli, Elena, Cameli, Cinzia, Viggiano, Marta, Igliozzi, Roberta, Mancini, Alice, Tancredi, Raffaella, Battaglia, Agatino, Maestrini, Elena
Publicado 2020

O015. Evaluation of the genetic polymorphism of the α3 (CHRNA3) and α5 (CHRNA5) nicotinic receptor subunits, in patients with cluster headache

por Cainazzo, Maria Michela, Tiraferri, Ilaria, Ciccarese, Michela, Martinelli, Angela, Cameli, Cinzia, Bacchelli, Elena, Zoli, Michele, Pini, Luigi Alberto
Publicado 2015

A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants

por Bacchelli, Elena, Cainazzo, Maria Michela, Cameli, Cinzia, Guerzoni, Simona, Martinelli, Angela, Zoli, Michele, Maestrini, Elena, Pini, Luigi Alberto
Publicado 2016

A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder

por Bacchelli, Elena, Ceroni, Fabiola, Pinto, Dalila, Lomartire, Silvia, Giannandrea, Maila, D'Adamo, Patrizia, Bonora, Elena, Parchi, Piero, Tancredi, Raffaella, Battaglia, Agatino, Maestrini, Elena
Publicado 2014

ELMOD3‐SH2D6 gene fusion as a possible co‐star actor in autism spectrum disorder scenario

por Loi, Eleonora, Moi, Loredana, Blois, Sylvain, Bacchelli, Elena, Vega Benedetti, Ana Florencia, Cameli, Cinzia, Fadda, Roberta, Maestrini, Elena, Carta, Marinella, Doneddu, Giuseppe, Zavattari, Patrizia
Publicado 2019

Brain Magnetic Resonance Findings in 117 Children with Autism Spectrum Disorder under 5 Years Old

por Rochat, Magali Jane, Distefano, Giacomo, Maffei, Monica, Toni, Francesco, Posar, Annio, Scaduto, Maria Cristina, Resca, Federica, Cameli, Cinzia, Bacchelli, Elena, Maestrini, Elena, Visconti, Paola
Publicado 2020

Mapping of partially overlapping de novo deletions across an autism susceptibility region [AUTS5] in two unrelated individuals affected by developmental delays with communication i...

por Newbury, Dianne F, Warburton, Pamela C, Wilson, Natalie, Bacchelli, Elena, Carone, Simona, Lamb, Janine A, Maestrini, Elena, Volpi, Emanuela V, Mohammed, Shehla, Baird, Gillian, Monaco, Anthony P
Publicado 2009

Integrated DNA methylation analysis identifies topographical and tumoral biomarkers in pilocytic astrocytomas

por 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
Publicado 2018

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration

por 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
Publicado 2015

Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility

por 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
Publicado 2022

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

por 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
Publicado 2019

Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder

por Bacchelli, Elena, Viggiano, Marta, Ceroni, Fabiola, Visconti, Paola, Posar, Annio, Scaduto, Maria, Sandoni, Laura, Baravelli, Irene, Cameli, Cinzia, Rochat, Magali, Maresca, Alessandra, Vaisfeld, Alessandro, Gentilini, Davide, Calzari, Luciano, Carelli, Valerio, Zody, Michael, Maestrini, Elena
Publicado 2023

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

por Cameli, Cinzia, Viggiano, Marta, Rochat, Magali J., Maresca, Alessandra, Caporali, Leonardo, Fiorini, Claudio, Palombo, Flavia, Magini, Pamela, Duardo, Renée C., Ceroni, Fabiola, Scaduto, Maria C., Posar, Annio, Seri, Marco, Carelli, Valerio, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena
Publicado 2021

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment

por Ceroni, Fabiola, Simpson, Nuala H, Francks, Clyde, Baird, Gillian, Conti-Ramsden, Gina, Clark, Ann, Bolton, Patrick F, Hennessy, Elizabeth R, Donnelly, Peter, Bentley, David R, Martin, Hilary, Parr, Jeremy, Pagnamenta, Alistair T, Maestrini, Elena, Bacchelli, Elena, Fisher, Simon E, Newbury, Dianne F
Publicado 2014

Reply to Pembrey et al: ‘ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'

por Ceroni, Fabiola, Simpson, Nuala H, Francks, Clyde, Baird, Gillian, Conti-Ramsden, Gina, Clark, Ann, Bolton, Patrick F, Hennessy, Elizabeth R, Donnelly, Peter, Bentley, David R, Martin, Hilary, Parr, Jeremy, Pagnamenta, Alistair T, Maestrini, Elena, Bacchelli, Elena, Fisher, Simon E, Newbury, Dianne F
Publicado 2015

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

por 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
Publicado 2019

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

por Bonora, Elena, Graziano, Claudio, Minopoli, Fiorella, Bacchelli, Elena, Magini, Pamela, Diquigiovanni, Chiara, Lomartire, Silvia, Bianco, Francesca, Vargiolu, Manuela, Parchi, Piero, Marasco, Elena, Mantovani, Vilma, Rampoldi, Luca, Trudu, Matteo, Parmeggiani, Antonia, Battaglia, Agatino, Mazzone, Luigi, Tortora, Giada, Maestrini, Elena, Seri, Marco, Romeo, Giovanni
Publicado 2014

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

por Bonora, Elena, Graziano, Claudio, Minopoli, Fiorella, Bacchelli, Elena, Magini, Pamela, Diquigiovanni, Chiara, Lomartire, Silvia, Bianco, Francesca, Vargiolu, Manuela, Parchi, Piero, Marasco, Elena, Mantovani, Vilma, Rampoldi, Luca, Trudu, Matteo, Parmeggiani, Antonia, Battaglia, Agatino, Mazzone, Luigi, Tortora, Giada, Maestrini, Elena, Seri, Marco, Romeo, Giovanni
Publicado 2014

Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder

por 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
Publicado 2022

The role of rare compound heterozygous events in autism spectrum disorder

por Lin, Bochao Danae, Colas, Fabrice, Nijman, Isaac J., Medic, Jelena, Brands, William, Parr, Jeremy R., van Eijk, Kristel R., Klauck, Sabine M., Chiocchetti, Andreas G., Freitag, Christine M., Maestrini, Elena, Bacchelli, Elena, Coon, Hilary, Vicente, Astrid, Oliveira, Guiomar, Pagnamenta, Alistair T., Gallagher, Louise, Ennis, Sean, Anney, Richard, Bourgeron, Thomas, Luykx, Jurjen J., Vorstman, Jacob
Publicado 2020