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Year Number of Results
2002 1
2005 1
2006 3
2007 1
2008 1
2009 1
2010 4
2011 2
2012 3
2014 6
2015 5
2016 2
2017 3
2018 3
2019 3
2020 4
2021 1
2022 2
2023 2
2024 1

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45 results

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Page 1
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: bacchelli 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. 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.
Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor.
Winsvold BS, Harder AVE, Ran C, Chalmer MA, Dalmasso MC, Ferkingstad E, Tripathi KP, Bacchelli E, Børte S, Fourier C, Petersen AS, Vijfhuizen LS, Magnusson SH, O'Connor E, Bjornsdottir G, Häppölä P, Wang YF, Callesen I, Kelderman T, Gallardo VJ, de Boer I, Olofsgård FJ, Heinze K, Lund N, Thomas LF, Hsu CL, Pirinen M, Hautakangas H, Ribasés M, Guerzoni S, Sivakumar P, Yip J, Heinze A, Küçükali F, Ostrowski SR, Pedersen OB, Kristoffersen ES, Martinsen AE, Artigas MS, Lagrata S, Cainazzo MM, Adebimpe J, Quinn O, Göbel C, Cirkel A, Volk AE, Heilmann-Heimbach S, Skogholt AH, Gabrielsen ME, Wilbrink LA, Danno D, Mehta D, Guðbjartsson DF; HUNT All-In Headache, The International Headache Genetics Consortium, DBDS Genomic Consortium; Rosendaal FR, Willems van Dijk K, Fronczek R, Wagner M, Scherer M, Göbel H, Sleegers K, Sveinsson OA, Pani L, Zoli M, Ramos-Quiroga JA, Dardiotis E, Steinberg A, Riedel-Heller S, Sjöstrand C, Thorgeirsson TE, Stefansson H, Southgate L, Trembath RC, Vandrovcova J, Noordam R, Paemeleire K, Stefansson K, Fann CS, Waldenlind E, Tronvik E, Jensen RH, Chen SP, Houlden H, Terwindt GM, Kubisch C, Maestrini E, Vikelis M, Pozo-Rosich P, Belin AC, Matharu M, van d… See abstract for full author list ➔ Winsvold BS, et al. Among authors: bacchelli e. Ann Neurol. 2023 Oct;94(4):713-726. doi: 10.1002/ana.26743. Epub 2023 Aug 7. Ann Neurol. 2023. PMID: 37486023 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: bacchelli e. Front Genet. 2022 Nov 7;13:953762. doi: 10.3389/fgene.2022.953762. eCollection 2022. Front Genet. 2022. PMID: 36419830 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: bacchelli e. Front Psychiatry. 2022 Mar 8;13:858238. doi: 10.3389/fpsyt.2022.858238. eCollection 2022. Front Psychiatry. 2022. PMID: 35350424 Free PMC article.
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: bacchelli 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.
The role of rare compound heterozygous events in autism spectrum disorder.
Lin BD, Colas F, Nijman IJ, Medic J, Brands W, Parr JR, van Eijk KR, Klauck SM, Chiocchetti AG, Freitag CM, Maestrini E, Bacchelli E, Coon H, Vicente A, Oliveira G, Pagnamenta AT, Gallagher L, Ennis S, Anney R, Bourgeron T, Luykx JJ, Vorstman J. Lin BD, et al. Among authors: bacchelli e. Transl Psychiatry. 2020 Jun 22;10(1):204. doi: 10.1038/s41398-020-00866-7. Transl Psychiatry. 2020. PMID: 32572023 Free PMC article.
45 results