For the most updated list of outputs, including preprints, check Silvia’s Google Scholar profile
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. . Proc Natl Acad Sci U S A. 2022 Aug 30;119(35):e2202764119. doi: 10.1073/pnas.2202764119. Epub 2022 Aug 23. PMID: 35998220; PMCID: PMC9436320.
Quantitative multidimensional phenotypes improve genetic analysis of laterality traits. J Schmitz, M Zheng, KFH Lui, Connie S.-H. Ho, C McBride and S Paracchini. Transl Psychiatry (2022) 12, 68.
Handedness in twins: meta-analyses LS Pfeifer, J Schmitz, M Papadatou-Pastou, J Peterburs, S Paracchini, S Ocklenburg BMC psychology (2022) 10 (1), 1-19
KIAA0319 influences cilia length, cell migration and mechanical cell–substrate interaction R Diaz, NM Kronenberg, A Martinelli, P Liehm, AC Riches, MC Gather, S Paracchini Scientific reports (2022) 12 (1), 1-12
Insights into Dyslexia Genetics Research from the Last Two Decades F Erbeli, M Rice, S Paracchini Brain Sciences (2022) 12 (1), 27
Genome-wide association study and polygenic risk score analysis for hearing measures in children Judith Schmitz, Filippo Abbondanza, Silvia Paracchini American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, (2021) 186B: 318– 328. [PDF]
Recent Advances in Handedness Genetics S Paracchini Symmetry (2021)13 (10), 1792
A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures. A Martinelli, M Rice, J B Talcott, R Diaz, S Smith, M H Raza, MJ Snowling, C Hulme, J Stein, ME Hayiou-Thomas, Z Hawi, L Kent, SJ Pitt, DF Newbury, S Paracchini, Human Molecular Genetics, (2021);, ddab111, https://doi.org/10.1093/hmg/ddab111
Hand preference and Mathematical Learning Difficulties: New data from Greece, the United Kingdom, and Germany and two meta-analyses of the literature M Papadatou-Pastou, DA Panagiotidou, F Abbondanza, U Fischer, S Paracchini, G Karagiannakis Laterality, (2021) 1-54 https://doi.org/10.1080/1357650X.2021.1906693 [PDF]
Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia. Mol Psychiatry. (2020) Oct 14. doi: 10.1038/s41380-020-00898-x.
Four meta-analyses across 164 studies on atypical footedness prevalence and its relation to handedness. Sci Rep. 2020 Sep 2;10(1):14501. doi: 10.1038/s41598-020-71478-w. [PDF]
Different laterality indexes are poorly correlated with one another but consistently show the tendency of males and females to be more left- and right-lateralized, respectively (2020) Buenaventura C, Lynch A, Paracchini S. R. Soc. open sci.7191700
Prevalence and heritability of handedness in a Hong Kong Chinese twin and singleton sample. (2020) Zheng M, McBride C, Ho CS, Chan JK, Choy KW, Paracchini S. BMC Psychol
Human handedness: A meta-analysis. (2020) Papadatou-Pastou M, Ntolka E, Schmitz J, Martin M, Munafò MR, Ocklenburg S, Paracchini S. Psychol Bull.146(6), 481–524. https://doi.org/10.1037/bul0000229 [PDF] A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism. (2019) Diquigiovanni C, Bergamini C, Diaz R, Liparulo I, Bianco F, Masin L, Baldassarro VA, Rizzardi N, Tranchina A, Buscherini F, Wischmeijer A, Pippucci T, Scarano E, Cordelli DM, Fato R, Seri M, Paracchini S, Bonora E. FASEB J. (10):11284-11302
Genomic Imprinting As a Window into Human Language Evolution (2019) Thomas J. Hitchcock, Silvia Paracchini and Andy Gardner. Bioessays 41 (6), e1800212
The dyslexia susceptibility KIAA0319 gene shows a specific expression pattern during zebrafish development supporting a role beyond neuronal migration (2019) M Gostic, A Martinelli, C Tucker, Z Yang, F Gasparoli, JY Ewart, K Dholakia, KT Sillar, JA Tello, S Paracchini. Journal of Comparative Neurology
Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia (2019) A Gialluisi, TFM Andlauer, N Mirza-Schreiber, K Moll, J Becker, P Hoffmann, KU Ludwig, D Czamara, B St Pourcain, W Brandler, F Honbolygo, D Toth, V Csepe, G Huguet, AP Morris, J Hulslander, EG Willcutt, JC DeFries, RK Olson, SD Smith, BF Pennington, A Vaessen, U Maurer, H Lyytinen, M Peyrard-Janvid, PHT Leppänen, D Brandeis, M Bonte, JF Stein, JB Talcott, F Fauchereau, A Wilcke, C Francks, T Bourgeron, AP Monaco, F Ramus, K Landerl, J Kere, TS Scerri, S Paracchini, SE Fisher, J Schumacher, MM Nöthen, B Müller-Myhsok, G Schulte-Körne. Translational psychiatry 9:77
The neuronal migration hypothesis of dyslexia: A critical evaluation 30 years on (2018) LG Guidi, A Velayos‐Baeza, I Martinez‐Garay, AP Monaco, S Paracchini, DVM Bishop, Zoltán MolnárEuropean Journal of Neuroscience 48 (10), 3212-3233 From Genes to Brains (2017) S Paracchini, Dyslexia and Neuroscience, 150-154
The DCDC2 deletion is not a risk factor for dyslexia (2017) Thomas S Scerri, Ellen Macpherson, Angela Martinelli, Wong Cheuk Wa, Anthony P Monaco, John Stein, Mo Zheng, C Suk-Han Ho, Catherine McBride, Margaret Snowling, Charles Hulme, Marianna E Hayiou-Thomas, Mary MY Waye, Joel B Talcott, Silvia Paracchini. Translational psychiatry 7 (7), e1182
Genetics of Human Handedness and Laterality (2017) S Paracchini, T Scerri Lateralized Brain Functions: Methods in Human and Non-Human Species, 523-552
Advances in Dyslexia Genetics—New Insights Into the Role of Brain Asymmetries (2016) S Paracchini, R Diaz, J Stein,Advances in Genetics 96
Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes (2016) KA Pettigrew, E Frinton, R Nudel, MTM Chan, P Thompson, ME. Hayiou-Thomas, JB. Talcott, J Stein, AP. Monaco, C Hulme, MJ Snowling, DF Newbury, S Paracchini Journal of Neurodevelopmental Disorders 8 (24)
The handedness-associated PCSK6 locus spans an intronic promoter regulating novel transcripts. (2016) Shore R, Covill L, Pettigrew KA, Brandler WM, Diaz R, Xu Y, Tello JA, Talcott JB, Newbury DF, Stein J, Monaco AP, Paracchini P. Human Molecula Genetics February 21, 2016 doi:10.1093/hmg/ddw047
Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment. (2015) 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. PLoS One. 2015 Aug 11;10(8):e0134997. doi: 10.1371/journal.pone.0134997.
Lack of replication for the myosin-18B association with mathematical ability in independent cohorts. (2015) 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; SLI Consortium, Whitehouse AJ, Snowling MJ, Newbury DF, Paracchini S. Genes Brain Behav. 2015 Mar 16. doi: 10.1111/gbb.12213.
Genome-wide screening for DNA variants associated with reading and language traits. (2014) Gialluisi A, Newbury DF, Wilcutt EG, Olson RK, DeFries JC, Brandler WM, Pennington BF, Smith SD, Scerri TS, Simpson NH; The SLI Consortium, Luciano M, Evans DM, Bates TC, Stein JF, Talcott JB, Monaco AP, Paracchini S, Francks C, Fisher SE. Genes Brain Behav. 2014 Jul 28.
Reading and language disorders: the importance of both quantity and quality. (2014) Newbury DF, Monaco AP, Paracchini S. Genes (Basel). 2014 Apr 4;5(2):285-309.
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment. (2014)Nudel R, Simpson NH, Baird G, O’Hare A, Conti-Ramsden G, Bolton PF, Hennessy ER; SLI Consortium, Ring SM, Davey Smith G, Francks C, Paracchini S, Monaco AP, Fisher SE, Newbury DF. Genes Brain Behav. 2014 Apr;13(4):418-29.
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. (2014) 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. Dev Med Child Neurol. 2014 Apr;56(4):346-53.
The genetic relationship between handedness and neurodevelopmental disorders. (2014) Brandler WM, Paracchini S. Trends Mol Med. 2014 Feb;20(2):83-90
Common Variants in Left/Right Asymmetry Genes and Pathways Are Associated with Relative Hand Skill. (2013) Brandler WM, Morris AP, Evans DM, Scerri TS, Kemp JP, Timpson NJ, St Pourcain B, Davey Smith G, Ring SM, Stein J, Monaco AP, Talcott JB, Fisher SE, Webber C, Paracchini S. PLoS Genetics 2013 Sept;9(9):e1003751.
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort. (2014) 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 CL, 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. Eur J Hum Genet. 2013 Sep 11.
The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure.(2012)Scerri TS, Darki F, Newbury DF, Whitehouse AJ, 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. PLoS One. 2012;7(11):e50321.
Dissection of genetic associations with language-related traits in population-based cohorts.(2011) Paracchini S. J Neurodev Disord. 2011 Dec;3(4):365-73.
DCDC2, KIAA0319 and CMIP are associated with reading-related traits. (2011) Scerri TS, Morris AP, Buckingham LL, Newbury DF, Miller LL, Monaco AP, Bishop DV, Paracchini S. Biol Psychiatry. 2011 Aug 1;70(3):237-45.
Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population.(2011) Paracchini S, Ang QW, Stanley FJ, Monaco AP, Pennell CE, Whitehouse AJ. Genes Brain Behav. 2011 Mar;10(2):158-65.
PCSK6 is associated with handedness in individuals with dyslexia. (2011) Scerri TS, Brandler WM, Paracchini S, Morris AP, Ring SM, Richardson AJ, Talcott JB, Stein J, Monaco AP. Hum Mol Genet. 2011 Feb 1;20(3):608-14.
Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects. (2011) Newbury DF, Paracchini S, Scerri TS, Winchester L, Addis L, Richardson AJ, Walter J, Stein JF, Talcott JB, Monaco AP. Behav Genet. 2011 Jan;41(1):90-104.
An allele-specific gene expression assay to test the functional basis of genetic associations. Paracchini S, Monaco AP, Knight JC. J Vis Exp. 2010 Nov 3;(45). pii: 2279. doi: 10.3791/2279.
Identification of candidate genes for dyslexia susceptibility on chromosome 18. Scerri TS, Paracchini S, Morris A, MacPhie IL, Talcott J, Stein J, Smith SD, Pennington BF, Olson RK, DeFries JC, Monaco AP, Richardson AJ. PLoS One. 2010 Oct 28;5(10):e13712. Erratum in: PLoS One. 2010;5(12). doi: 10.1371/annotation/2294a38b-878d-42f0-9faf-0822db4a0248. Richardson, Alex J [added].
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. 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, Nöthen MM, Schulte-Körne G, Deloukas P, Ragoussis J, Bailey AJ, Maestrini E, Monaco AP; International Molecular Genetic Study Of Autism Consortium. Biol Psychiatry. 2010 Aug 15;68(4):320-8.
CMIP and ATP2C2 modulate phonological short-term memory in language impairment. Newbury DF, Winchester L, Addis L, Paracchini S, Buckingham LL, 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 DV, Monaco AP. Am J Hum Genet. 2009 Aug;85(2):264-72.
A common variant associated with dyslexia reduces expression of the KIAA0319 gene. Dennis MY, Paracchini S, Scerri TS, Prokunina-Olsson L, Knight JC, Wade-Martins R, Coggill P, Beck S, Green ED, Monaco AP. PLoS Genet. 2009 Mar;5(3):e1000436.
Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population. Paracchini S, Steer CD, Buckingham LL, Morris AP, Ring S, Scerri T, Stein J, Pembrey ME, Ragoussis J, Golding J, Monaco AP. Am J Psychiatry. 2008 Dec;165(12):1576-84.
The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms. Velayos-Baeza A, Toma C, Paracchini S, Monaco AP. Hum Mol Genet. 2008 Mar 15;17(6):859-71.
Alternative splicing in the dyslexia-associated gene KIAA0319. Velayos-Baeza A, Toma C, da Roza S, Paracchini S, Monaco AP. Mamm Genome. 2007 Sep;18(9):627-34.
The genetic lexicon of dyslexia. Paracchini S, Scerri T, Monaco AP. Annu Rev Genomics Hum Genet. 2007;8:57-79. Review.
Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. Harold D, Paracchini S, Scerri T, Dennis M, Cope N, Hill G, Moskvina V, Walter J, Richardson AJ, Owen MJ, Stein JF, Green ED, O’Donovan MC, Williams J, Monaco AP. Mol Psychiatry. 2006 Dec;11(12):1085-91, 1061.
The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration. Paracchini S, Thomas A, Castro S, Lai C, Paramasivam M, Wang Y, Keating BJ, Taylor JM, Hacking DF, Scerri T, Francks C, Richardson AJ, Wade-Martins R, Stein JF, Knight JC, Copp AJ, Loturco J, Monaco AP. Hum Mol Genet. 2006 May 15;15(10):1659-66.
Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK. Scerri TS, Fisher SE, Francks C, MacPhie IL, Paracchini S, Richardson AJ, Stein JF, Monaco AP. J Med Genet. 2004 Nov;41(11):853-7.
A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. Francks C, Paracchini S, Smith SD, Richardson AJ, Scerri TS, Cardon LR, Marlow AJ, MacPhie IL, Walter J, Pennington BF, Fisher SE, Olson RK, DeFries JC, Stein JF, Monaco AP. Am J Hum Genet. 2004 Dec;75(6):1046-58.