Publications

2016

The handedness-associated PCSK6 locus spans an intronic promoter regulating novel transcripts. 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

2015

Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment. 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. 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.

2014

Genome-wide screening for DNA variants associated with reading and language traits. 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. doi: 10.1111/gbb.12158.

Reading and language disorders: the importance of both quantity and quality. 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. 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. 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. Brandler WM, Paracchini S. Trends Mol Med. 2014 Feb;20(2):83-90.

2013

Common Variants in Left/Right Asymmetry Genes and Pathways Are Associated with Relative Hand Skill. 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. 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. doi: 10.1038/ejhg.2013.199.

2012

The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure. 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.

2011

Dissection of genetic associations with language-related traits in population-based cohorts. Paracchini S. J Neurodev Disord. 2011 Dec;3(4):365-73.

DCDC2, KIAA0319 and CMIP are associated with reading-related traits. 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. 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. 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. 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.

2010

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.

2009

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.

2008

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.

 2007

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.

 2006

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.

2004

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.

Research@StAndrews