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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: ceroni f. 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.
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.
Ceroni F, Simpson NH, Francks C, Baird G, Conti-Ramsden G, Clark A, Bolton PF, Hennessy ER, Donnelly P, Bentley DR, Martin H; IMGSAC; SLI Consortium; WGS500 Consortium; Parr J, Pagnamenta AT, Maestrini E, Bacchelli E, Fisher SE, Newbury DF. Ceroni F, et al. Eur J Hum Genet. 2014 Oct;22(10):1165-71. doi: 10.1038/ejhg.2014.4. Epub 2014 Feb 12. Eur J Hum Genet. 2014. PMID: 24518835 Free PMC article.
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'.
Ceroni F, Simpson NH, Francks C, Baird G, Conti-Ramsden G, Clark A, Bolton PF, Hennessy ER, Donnelly P, Bentley DR, Martin H; IMGSAC; SLI Consortium; WGS500 Consortium; Parr J, Pagnamenta AT, Maestrini E, Bacchelli E, Fisher SE, Newbury DF. Ceroni F, et al. Eur J Hum Genet. 2015 Sep;23(9):1113-5. doi: 10.1038/ejhg.2014.275. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537359 Free PMC article. No abstract available.
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: ceroni f. Front Psychiatry. 2022 Mar 8;13:858238. doi: 10.3389/fpsyt.2022.858238. eCollection 2022. Front Psychiatry. 2022. PMID: 35350424 Free PMC article.
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.
Eising E, Mirza-Schreiber N, de Zeeuw EL, Wang CA, Truong DT, Allegrini AG, Shapland CY, Zhu G, Wigg KG, Gerritse ML, Molz B, Alagöz G, Gialluisi A, Abbondanza F, Rimfeld K, van Donkelaar M, Liao Z, Jansen PR, Andlauer TFM, Bates TC, Bernard M, Blokland K, Bonte M, Børglum AD, Bourgeron T, Brandeis D, Ceroni F, Csépe V, Dale PS, de Jong PF, DeFries JC, Démonet JF, Demontis D, Feng Y, Gordon SD, Guger SL, Hayiou-Thomas ME, Hernández-Cabrera JA, Hottenga JJ, Hulme C, Kere J, Kerr EN, Koomar T, Landerl K, Leonard GT, Lovett MW, Lyytinen H, Martin NG, Martinelli A, Maurer U, Michaelson JJ, Moll K, Monaco AP, Morgan AT, Nöthen MM, Pausova Z, Pennell CE, Pennington BF, Price KM, Rajagopal VM, Ramus F, Richer L, Simpson NH, Smith SD, Snowling MJ, Stein J, Strug LJ, Talcott JB, Tiemeier H, van der Schroeff MP, Verhoef E, Watkins KE, Wilkinson M, Wright MJ, Barr CL, Boomsma DI, Carreiras M, Franken MJ, Gruen JR, Luciano M, Müller-Myhsok B, Newbury DF, Olson RK, Paracchini S, Paus T, Plomin R, Reilly S, Schulte-Körne G, Tomblin JB, van Bergen E, Whitehouse AJO, Willcutt EG, St Pourcain B, Francks C, Fisher SE. Eising E, et al. Among authors: ceroni f. Proc Natl Acad Sci U S A. 2022 Aug 30;119(35):e2202764119. doi: 10.1073/pnas.2202764119. Epub 2022 Aug 23. Proc Natl Acad Sci U S A. 2022. PMID: 35998220 Free PMC article.
Discovery of 42 genome-wide significant loci associated with dyslexia.
Doust C, Fontanillas P, Eising E, Gordon SD, Wang Z, Alagöz G, Molz B; 23andMe Research Team; Quantitative Trait Working Group of the GenLang Consortium; Pourcain BS, Francks C, Marioni RE, Zhao J, Paracchini S, Talcott JB, Monaco AP, Stein JF, Gruen JR, Olson RK, Willcutt EG, DeFries JC, Pennington BF, Smith SD, Wright MJ, Martin NG, Auton A, Bates TC, Fisher SE, Luciano M. Doust C, et al. Nat Genet. 2022 Nov;54(11):1621-1629. doi: 10.1038/s41588-022-01192-y. Epub 2022 Oct 20. Nat Genet. 2022. PMID: 36266505 Free PMC article.
57 results