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Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients.
Published in:
EMBO Molecular Medicine, 2014, v. 6, n. 12, p. 1639, doi. 10.15252/emmm.201404829
By:
- 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
Publication type:
Article
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients.
Published in:
EMBO Molecular Medicine, 2014, v. 6, n. 6, p. 795, doi. 10.1002/emmm.201303235
By:
- 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
Publication type:
Article
The role of rare compound heterozygous events in autism spectrum disorder.
Published in:
Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-00866-7
By:
- 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
Publication type:
Article
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.
Published in:
Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.858238
By:
- 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
Publication type:
Article
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 715, doi. 10.1002/ajmg.a.36847
By:
- Bacchelli, Elena;
- Battaglia, Agatino;
- Cameli, Cinzia;
- Lomartire, Silvia;
- Tancredi, Raffaella;
- Thomson, Susanne;
- Sutcliffe, James S;
- Maestrini, Elena
Publication type:
Article
Lack of replication of previous autism spectrum disorder GWAS hits in European populations.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2017, v. 10, n. 2, p. 202, doi. 10.1002/aur.1662
By:
- 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
Publication type:
Article
A Deletion Involving CD 38 and BST 1 Results in a Fusion Transcript in a Patient With Autism and Asthma.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2014, v. 7, n. 2, p. 254, doi. 10.1002/aur.1365
By:
- Ceroni, Fabiola;
- Sagar, Angela;
- Simpson, Nuala H.;
- Gawthrope, Alex J.T.;
- Newbury, Dianne F.;
- Pinto, Dalila;
- Francis, Sunday M.;
- Tessman, Dorothy C.;
- Cook, Edwin H.;
- Monaco, Anthony P.;
- Maestrini, Elena;
- Pagnamenta, Alistair T.;
- Jacob, Suma
Publication type:
Article
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.
Published in:
2003
By:
- Beyer, Kim S.;
- Blasi, Francesca;
- Bacchelli, Elena;
- Klauck, Sabine M.;
- Maestrini, Elena;
- Poustka, Annemarie
Publication type:
Erratum
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.
Published in:
Human Genetics, 2002, v. 111, n. 4/5, p. 305, doi. 10.1007/s00439-002-0786-3
By:
- Beyer, Kim S.;
- Blasi, Francesca;
- Bacchelli, Elena;
- Klauck, Sabine M.;
- Maestrini, Elena;
- Poustka, Annemarie
Publication type:
Article
Brain Magnetic Resonance Findings in 117 Children with Autism Spectrum Disorder under 5 Years Old.
Published in:
Brain Sciences (2076-3425), 2020, v. 10, n. 10, p. 741, doi. 10.3390/brainsci10100741
By:
- Rochat, Magali Jane;
- Distefano, Giacomo;
- Maffei, Monica;
- Toni, Francesco;
- Posar, Annio;
- Scaduto, Maria Cristina;
- Resca, Federica;
- Cameli, Cinzia;
- Bacchelli, Elena;
- Maestrini, Elena;
- Visconti, Paola
Publication type:
Article
Molecular Genetic Investigations of Autism.
Published in:
Journal of Autism & Developmental Disorders, 1998, v. 28, n. 5, p. 427, doi. 10.1023/A:1026056522602
By:
- Maestrini, Elena;
- Marlow, Angela J.;
- Weeks, Daniel E.;
- Monaco, Anthony P.
Publication type:
Article
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1694, doi. 10.1038/ejhg.2015.37
By:
- 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
Publication type:
Article
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1113, doi. 10.1038/ejhg.2014.275
By:
- 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
Publication type:
Article
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1165, doi. 10.1038/ejhg.2014.4
By:
- 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
Publication type:
Article
Linkage and candidate gene studies of autism spectrum disorders in European populations.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1013, doi. 10.1038/ejhg.2010.69
By:
- Holt, Richard;
- Barnby, Gabrielle;
- Maestrini, Elena;
- Bacchelli, Elena;
- Brocklebank, Denise;
- Sousa, Inês;
- Mulder, Erik J.;
- Kantojärvi, Katri;
- Järvelä, Irma;
- Klauck, Sabine M.;
- Poustka, Fritz;
- Bailey, Anthony J.;
- Monaco, Anthony P.
Publication type:
Article
Corrigendum to: Linkage and candidate gene studies of autism spectrum disorders in European populations.
Published in:
2010
By:
- Holt, Richard;
- Barnby, Gabrielle;
- Maestrini, Elena;
- Bacchelli, Elena;
- Brocklebank, Denise;
- Sousa, Inês;
- Mulder, Erik J;
- Kantojärvi, Katri;
- Järvelä, Irma;
- Klauck, Sabine M;
- Poustka, Fritz;
- Bailey, Anthony J;
- Monaco, Anthony P
Publication type:
Correction Notice
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1347, doi. 10.1038/ejhg.2009.47
By:
- Sykes, Nuala H.;
- Toma, Claudio;
- Wilson, Natalie;
- Volpi, Emanuela V.;
- Sousa, Inês;
- Pagnamenta, Alistair T;
- Tancredi, Raffaella;
- Battaglia, Agatino;
- Maestrini, Elena;
- Bailey, Anthony J.;
- Monaco, Anthony P.
Publication type:
Article
MET and autism susceptibility: family and case–control studies.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 6, p. 749, doi. 10.1038/ejhg.2008.215
By:
- Sousa, Inês;
- Clark, Taane G.;
- Toma, Claudio;
- Kobayashi, Kazuhiro;
- Choma, Maja;
- Holt, Richard;
- Sykes, Nuala H.;
- Lamb, Janine A.;
- Bailey, Anthony J.;
- Battaglia, Agatino;
- Maestrini, Elena;
- Monaco, Anthony P.
Publication type:
Article
SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.
Published in:
European Journal of Human Genetics, 2006, v. 14, n. 1, p. 123, doi. 10.1038/sj.ejhg.5201444
By:
- Blasi, Francesca;
- Bacchelli, Elena;
- Carone, Simona;
- Toma, Claudio;
- Monaco, Anthony P.;
- Bailey, Anthony J.;
- Maestrini, Elena
Publication type:
Article
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 2, p. 198, doi. 10.1038/sj.ejhg.5201315
By:
- Bonora, Elena;
- Lamb, Janine A.;
- Barnby, Gabrielle;
- Sykes, Nuala;
- Moberly, Thomas;
- Beyer, Kim S.;
- Klauck, Sabine M.;
- Poustka, Firtz;
- Bacchelli, Elena;
- Blasi, Francesca;
- Maestrini, Elena;
- Battaglia, Agatino;
- Haracopos, Demetrios;
- Pedersen, Lennart;
- Isager, Torben;
- Eriksen, Gunna;
- Viskum, Birgitte;
- Sorensen, Ester-Ulsted;
- Brondum-Nielsen, Karen;
- Cotterill, Rodney
Publication type:
Article
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-59922-3
By:
- Bacchelli, Elena;
- Cameli, Cinzia;
- Viggiano, Marta;
- Igliozzi, Roberta;
- Mancini, Alice;
- Tancredi, Raffaella;
- Battaglia, Agatino;
- Maestrini, Elena
Publication type:
Article
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
Published in:
Journal of Cellular & Molecular Medicine, 2021, v. 25, n. 5, p. 2459, doi. 10.1111/jcmm.16161
By:
- 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
Publication type:
Article
ELMOD3‐SH2D6 gene fusion as a possible co‐star actor in autism spectrum disorder scenario.
Published in:
Journal of Cellular & Molecular Medicine, 2020, v. 24, n. 2, p. 2064, doi. 10.1111/jcmm.14733
By:
- Loi, Eleonora;
- Moi, Loredana;
- Blois, Sylvain;
- Bacchelli, Elena;
- Vega Benedetti, Ana Florencia;
- Cameli, Cinzia;
- Fadda, Roberta;
- Maestrini, Elena;
- Carta, Marinella;
- Doneddu, Giuseppe;
- Zavattari, Patrizia
Publication type:
Article
A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants.
Published in:
Journal of Headache & Pain, 2016, v. 17, n. 1, p. 1, doi. 10.1186/s10194-016-0705-y
By:
- Bacchelli, Elena;
- Cainazzo, Maria;
- Cameli, Cinzia;
- Guerzoni, Simona;
- Martinelli, Angela;
- Zoli, Michele;
- Maestrini, Elena;
- Pini, Luigi
Publication type:
Article
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.953762
By:
- 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
Publication type:
Article
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00411-1
By:
- Viggiano, Marta;
- Ceroni, Fabiola;
- Visconti, Paola;
- Posar, Annio;
- Scaduto, Maria Cristina;
- Sandoni, Laura;
- Baravelli, Irene;
- Cameli, Cinzia;
- Rochat, Magali J.;
- Maresca, Alessandra;
- Vaisfeld, Alessandro;
- Gentilini, Davide;
- Calzari, Luciano;
- Carelli, Valerio;
- Zody, Michael C.;
- Maestrini, Elena;
- Bacchelli, Elena
Publication type:
Article
A missense mutation in connexin26, D66H, cases mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 7, p. 1237, doi. 10.1093/hmg/8.7.1237
By:
- Maestrini, Elena;
- Korge, Bernhard P.;
- Ocana-Sierra, Juan;
- Calzolari, Elisa;
- Cambiaghi, Stefano;
- Scudder, Pat M.;
- Hovnanian, Alain;
- Monaco, Anthony P.;
- Munro, Colin S.
Publication type:
Article
An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new CpG islands of the human X chromosome.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 4, p. 275
By:
- Maestrini, Elena;
- Tamanini, Filippo;
- Kioschis, Petra;
- Gimbo, Elisabeth;
- Marinelli, Paola;
- Tribioli, Carla;
- D'Urso, Michele;
- Palmieri, Giuseppe;
- Poustka, Annemarie;
- Toniolo, Daniela
Publication type:
Article

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