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Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
Viggiano M, Ceroni F, Visconti P, Posar A, Scaduto MC, Sandoni L, Baravelli I, Cameli C, Rochat MJ, Maresca A, Vaisfeld A, Gentilini D, Calzari L, Carelli V, Zody MC, Maestrini E, Bacchelli E. Viggiano M, et al. Among authors: maestrini e. NPJ Genom Med. 2024 Mar 22;9(1):21. doi: 10.1038/s41525-024-00411-1. NPJ Genom Med. 2024. PMID: 38519481 Free PMC article.
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
Bacchelli E, Viggiano M, Ceroni F, Visconti P, Posar A, Scaduto M, Sandoni L, Baravelli I, Cameli C, Rochat M, Maresca A, Vaisfeld A, Gentilini D, Calzari L, Carelli V, Zody M, Maestrini E. Bacchelli E, et al. Among authors: maestrini e. Res Sq [Preprint]. 2023 Oct 28:rs.3.rs-3468592. doi: 10.21203/rs.3.rs-3468592/v1. Res Sq. 2023. PMID: 37961520 Free PMC article. Updated. Preprint.
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. Cameli C, et al. Among authors: maestrini e. J Cell Mol Med. 2021 Mar;25(5):2459-2470. doi: 10.1111/jcmm.16161. Epub 2021 Jan 21. J Cell Mol Med. 2021. PMID: 33476483 Free PMC article.
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.
Viggiano M, D'Andrea T, Cameli C, Posar A, Visconti P, Scaduto MC, Colucci R, Rochat MJ, Ceroni F, Milazzo G, Fucile S, Maestrini E, Bacchelli E. Viggiano M, et al. Among authors: maestrini e. Front Psychiatry. 2022 Mar 8;13:858238. doi: 10.3389/fpsyt.2022.858238. eCollection 2022. Front Psychiatry. 2022. PMID: 35350424 Free PMC article.
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.
Caporali L, Fiorini C, Palombo F, Romagnoli M, Baccari F, Zenesini C, Visconti P, Posar A, Scaduto MC, Ormanbekova D, Battaglia A, Tancredi R, Cameli C, Viggiano M, Olivieri A, Torroni A, Maestrini E, Rochat MJ, Bacchelli E, Carelli V, Maresca A. Caporali L, et al. Among authors: maestrini e. Front Genet. 2022 Nov 7;13:953762. doi: 10.3389/fgene.2022.953762. eCollection 2022. Front Genet. 2022. PMID: 36419830 Free PMC article.
Autism spectrum disorders: molecular genetic advances.
Bacchelli E, Maestrini E. Bacchelli E, et al. Among authors: maestrini e. Am J Med Genet C Semin Med Genet. 2006 Feb 15;142C(1):13-23. doi: 10.1002/ajmg.c.30078. Am J Med Genet C Semin Med Genet. 2006. PMID: 16419096 Review.
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility.
Bacchelli E, Battaglia A, Cameli C, Lomartire S, Tancredi R, Thomson S, Sutcliffe JS, Maestrini E. Bacchelli E, et al. Among authors: maestrini e. Am J Med Genet A. 2015 Apr;167A(4):715-23. doi: 10.1002/ajmg.a.36847. Epub 2015 Feb 5. Am J Med Genet A. 2015. PMID: 25655306
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 E, Loi E, Cameli C, Moi L, Vega-Benedetti AF, Blois S, Fadda A, Bonora E, Mattu S, Fadda R, Chessa R, Maestrini E, Doneddu G, Zavattari P. Bacchelli E, et al. Among authors: maestrini e. J Clin Med. 2019 Feb 7;8(2):212. doi: 10.3390/jcm8020212. J Clin Med. 2019. PMID: 30736458 Free PMC article.
81 results