Paracchini, Silvia - University of St Andrews

个人简介

I graduated in Biological Sciences (cum laude) from University of Pavia in 1998 and obtained a DPhil in Human Genetics from Oxford University in 2003. My project, supervised by Dr Chris Tyler-Smith and Prof. Ed Southern involved the development of genotyping methods and screening of large cohorts for genetic associations with prostate cancer and male infertility. I conducted my post-doctoral training in Prof. Anthony Monaco’s group at the Wellcome Trust Centre for Human Genetics, Oxford University. My work led to the identification of strong candidate gene for dyslexia (KIAA0319) and initiated functional studies to understand the role of this gene during early development. I was appointed as Academic Fellow at the University of St Andrews in 2011 and awarded a Royal Society University Research Fellowship in the same year.

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Paracchini, S & Scerri, T 2017, Genetics of human handedness and laterality. in L Rogers & G Vallortigara (eds), Lateralized Brain Functions : Methods in Human and Non-Human Species. Neuromethods, vol. 122, Humana Press/Springer, pp. 523-552. DOI: 10.1007/978-1-4939-6725-4_16 Pettigrew, KA, Frinton, E, Nudel, R, Chan, MTM, Thompson, P, Hayiou-Thomas, ME, Talcott, JB, Stein, J, Monaco, AP, Hulme, C, Snowling, MJ, Newbury, DF & Paracchini, S 2016, 'Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes' Journal of Neurodevelopmental Disorders, vol 8, 24. DOI: 10.1186/s11689-016-9157-6 Shore, RJ, Covill, L, Pettigrew, KA, Brandler, WA, Diaz Vazquez, R, Xu, Y, Tello, J, Talcott, JB, Newbury, DF, Stein, J, Monaco, AP & Paracchini, S 2016, 'The handedness-associated PCSK6 locus spans an intronic promoter regulating novel transcripts' Human Molecular Genetics, vol 25, no. 9, pp. 1771-1779. DOI: 10.1093/hmg/ddw047 Paracchini, S, Diaz Vazquez, R & Stein, J 2016, Advances in dyslexia genetics—new insights into the role of brain asymmetries. in T Friedmann, JC Dunlap & SF Goodwin (eds), Advances in Genetics. Advances in Genetics, vol. 96, Elsevier, pp. 53-97. DOI: 10.1016/bs.adgen.2016.08.003 Pettigrew, KA, Reeves, E, Leavett, R, Hayiou-Thomas, ME, Sharma, A, Simpson, NH, Martinelli, A, Thompson, P, Hulme, C, Snowling, MJ, Newbury, DF & Paracchini, S 2015, 'Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment' PLoS One, vol 10, no. 8, e0134997. DOI: 10.1371%2Fjournal.pone.0134997 Pettigrew, KA, Fajutrao Valles, SF, Moll, K, Northstone, K, Ring, S, Pennell, C, Wang, C, Leavett, R, Hayiou-Thomas, ME, Thompson, P, Simpson, NH, Fisher, SE, Whitehouse, AJO, Snowling, MJ, Newbury, DF, Paracchini, S & SLI Consortium 2015, 'Lack of replication for the myosin-18B association with mathematical ability in independent cohorts' Genes, Brain and Behavior, vol 14, no. 4, pp. 369-376. DOI: 10.1111/gbb.12213 Gialluisi, A, Newbury, DF, Wilcutt, EG, Olson, RK, DeFries, JC, Brandler, WM, Pennington, BF, Smith, SD, Scerri, TS, Simpson, NH, Luciano, M, Evans, DM, Bates, TC, Stein, JF, Talcott, JB, Monaco, AP, Paracchini, S, Francks, C, Fisher, SE & The SLI Consortium 2014, 'Genome-wide screening for DNA variants associated with reading and language traits' Genes, Brain and Behavior, vol 13, no. 7, pp. 686-701. DOI: 10.1111/gbb.12158 Becker, J, Czamara, D, Scerri, TS, Ramus, F, Csépe, V, Talcott, JB, Stein, J, Morris, A, Ludwig, KU, Hoffmann, P, Honbolygó, F, Tóth, D, Fauchereau, F, Bogliotti, C, Iannuzzi, S, Chaix, Y, Valdois, S, Billard, C, George, F, Soares-Boucaud, I, Gérard, C-L, van der Mark, S, Schulz, E, Vaessen, A, Maurer, U, Lohvansuu, K, Lyytinen, H, Zucchelli, M, Brandeis, D, Blomert, L, Leppänen, PH, Bruder, J, Monaco, AP, Müller-Myhsok, B, Kere, J, Landerl, K, Nöthen, MM, Schulte-Körne, G, Paracchini, S, Peyrard-Janvid, M & Schumacher, J 2014, 'Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort' European Journal of Human Genetics, vol 22, pp. 675-680. DOI: 10.1038/ejhg.2013.199 Newbury, DF, Monaco, AP & Paracchini, S 2014, 'Reading and language disorders: the importance of both quantity and quality' Genes, vol 5, no. 2, pp. 285-309. DOI: 10.3390/genes5020285 Nudel, R, Simpson, NH, Baird, G, O'Hare, A, Conti-Ramsden, G, Bolton, PF, Hennessy, ER, Ring, SM, Smith, GD, Francks, C, Paracchini, S, Monaco, AP, Fisher, SE, Newbury, DF & the SLI Consortium 2014, 'Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment' Genes, Brain and Behavior, vol 13, no. 4, pp. 418–429. DOI: 10.1111/gbb.12127 Simpson, NH, Addis, L, Brandler, WM, Slonims, V, Clark, A, Watson, J, Scerri, TS, Hennessy, ER, Bolton, PF, Conti-Ramsden, G, Fairfax, BP, Knight, JC, Stein, J, Talcott, JB, O'Hare, A, Baird, G, Paracchini, S, Fisher, SE, Newbury, DF & Consortium, S 2014, 'Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia' Developmental Medicine and Child Neurology, vol 56, no. 4, pp. 346-353. DOI: 10.1111/dmcn.12294 Brandler, WM & Paracchini, S 2014, 'The genetic relationship between handedness and neurodevelopmental disorders' Trends in Molecular Medicine, vol 20, no. 2, pp. 83-90. DOI: 10.1016/j.molmed.2013.10.008 Brandler, W, Morris, A, Evans, D, Scerri, T, Kemp, J, Timpson, N, St Pourcain, B, Davey Smith, G, Ring, S, Stein, J, Monaco, A, Talcott, J, Fisher, S, Webber, C & Paracchini, S 2013, 'Common variants in left/right asymmetry genes and pathways are associated with relative hand skill' PLoS Genetics, vol 9, no. 9, e10033751. DOI: 10.1371/journal.pgen.1003751 Scerri, TS, Darki, F, Newbury, DF, Whitehouse, AJO, Peyrard-Janvid, M, Matsson, H, Ang, QW, Pennell, CE, Ring, S, Stein, J, Morris, AP, Monaco, AP, Kere, J, Talcott, JB, Klingberg, T & Paracchini, S 2012, 'The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure' PLoS One, vol 7, no. 11, e50321. DOI: 10.1371/journal.pone.0050321 Scerri, TS, Morris, AP, Buckingham, L-L, Newbury, DF, Miller, LL, Monaco, AP, Bishop, DVM & Paracchini, S 2011, 'DCDC2, KIAA0319 and CMIP Are Associated with Reading-Related Traits' Biological Psychiatry, vol 70, no. 3, pp. 237-245. DOI: 10.1016/j.biopsych.2011.02.005 Paracchini, S, Ang, QW, Stanley, FJ, Monaco, AP, Pennell, CE & Whitehouse, AJO 2011, 'Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population' Genes, Brain and Behavior, vol 10, no. 2, pp. 158-165. DOI: 10.1111/j.1601-183X.2010.00651.x Scerri, TS, Brandler, WM, Paracchini, S, Morris, AP, Ring, SM, Richardson, AJ, Talcott, JB, Stein, J & Monaco, AP 2011, 'PCSK6 is associated with handedness in individuals with dyslexia' Human Molecular Genetics, vol 20, no. 3, pp. 608-614. DOI: 10.1093/hmg/ddq475 Newbury, DF, Paracchini, S, Scerri, TS, Winchester, L, Addis, L, Richardson, AJ, Walter, J, Stein, JF, Talcott, JB & Monaco, AP 2011, 'Investigation of Dyslexia and SLI Risk Variants in Reading- and Language-Impaired Subjects' Behavior Genetics, vol 41, no. 1, pp. 90-104. DOI: 10.1007/s10519-010-9424-3 Paracchini, S 2011, 'Dissection of genetic associations with language-related traits in population-based cohorts' Journal of Neurodevelopmental Disorders, vol 3, no. 4, pp. 365-373. DOI: 10.1007/s11689-011-9091-6 Scerri, TS, Paracchini, S, Morris, A, MacPhie, IL, Talcott, J, Stein, J, Smith, SD, Pennington, BF, Olson, RK, DeFries, JC & Monaco, AP 2010, 'Identification of candidate genes for dyslexia susceptibility on chromosome 18' PLoS One, vol 5, no. 10, e13712. DOI: 10.1371/journal.pone.0013712 Pagnamenta, AT, Bacchelli, E, de Jonge, MV, Mirza, G, Scerri, TS, Minopoli, F, Chiocchetti, A, Ludwig, KU, Hoffmann, P, Paracchini, S, Lowy, E, Harold, DH, Chapman, JA, Klauck, SM, Poustka, F, Houben, RH, Staal, WG, Ophoff, RA, O'Donovan, MC, Williams, J, Noethen, MM, Schulte-Koerne, G, Deloukas, P, Ragoussis, J, Bailey, AJ, Maestrini, E, Monaco, AP & Autism Consortium 2010, 'Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia' Biological Psychiatry, vol 68, no. 4, pp. 320-328. DOI: 10.1016/j.biopsych.2010.02.002 Newbury, DF, Winchester, L, Addis, L, Paracchini, S, Buckingham, L-L, Clark, A, Cohen, W, Cowie, H, Dworzynski, K, Everitt, A, Goodyer, IM, Hennessy, E, Kindley, AD, Miller, LL, Nasir, J, O'Hare, A, Shaw, D, Simkin, Z, Simonoff, E, Slonims, V, Watson, J, Ragoussis, J, Fisher, SE, Seckl, JR, Helms, PJ, Bolton, PF, Pickles, A, Conti-Ramsden, G, Baird, G, Bishop, DVM & Monaco, AP 2009, 'CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment' American Journal of Human Genetics, vol 85, no. 2, pp. 264-272. DOI: 10.1016/j.ajhg.2009.07.004 Dennis, MY, Paracchini, S, Scerri, TS, Prokunina-Olsson, L, Knight, JC, Wade-Martins, R, Coggill, P, Beck, S, Green, ED & Monaco, AP 2009, 'A common variant associated with dyslexia reduces expression of the KIAA0319 gene' PLoS Genetics, vol 5, no. 3, e1000436. DOI: 10.1371/journal.pgen.1000436 Paracchini, S, Steer, CD, Buckingham, L-L, Morris, AP, Ring, S, Scerri, T, Stein, J, Pembrey, ME, Ragoussis, J, Golding, J & Monaco, AP 2008, 'Association of the KIAA0319 Dyslexia Susceptibility Gene With Reading Skills in the General Population' American Journal of Psychiatry, vol 165, no. 12, pp. 1576-1584. DOI: 10.1176/appi.ajp.2008.07121872 Velayos-Baeza, A, Toma, C, Paracchini, S & Monaco, AP 2008, 'The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms' Human Molecular Genetics, vol 17, no. 6, pp. 859-871. DOI: 10.1093/hmg/ddm358