Silvia Paracchini

Summary

Affiliation: University of Oxford
Location: Oxford, UK
URL: http://www.ndm.ox.ac.uk/principal-investigators/researcher/silvia-paracchini
Summary:
Human geneticist interested in complex cognitive traits and neurodevelopmental disorders such as dyslexia
Grants:
MRC Research grant: “Gene x gene and gene x environment interactions underlying speech, language and reading development". 2008-2010

Publications

  1. pmc DCDC2, KIAA0319 and CMIP are associated with reading-related traits
    Tom S Scerri
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Biol Psychiatry 70:237-45. 2011
  2. pmc Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects
    D F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    Behav Genet 41:90-104. 2011
  3. pmc An allele-specific gene expression assay to test the functional basis of genetic associations
    Silvia Paracchini
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    J Vis Exp . 2010
  4. pmc Identification of candidate genes for dyslexia susceptibility on chromosome 18
    Thomas S Scerri
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS ONE 5:e13712. 2010
  5. pmc PCSK6 is associated with handedness in individuals with dyslexia
    Thomas S Scerri
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK
    Hum Mol Genet 20:608-14. 2011
  6. pmc CMIP and ATP2C2 modulate phonological short-term memory in language impairment
    Dianne F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Am J Hum Genet 85:264-72. 2009
  7. pmc A common variant associated with dyslexia reduces expression of the KIAA0319 gene
    Megan Y Dennis
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    PLoS Genet 5:e1000436. 2009
  8. ncbi request reprint The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms
    Antonio Velayos-Baeza
    Present address Department of Biology, University of Bologna, Bologna, Italy
    Hum Mol Genet 17:859-71. 2008
  9. ncbi request reprint Alternative splicing in the dyslexia-associated gene KIAA0319
    Antonio Velayos-Baeza
    Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, Oxford, UK
    Mamm Genome 18:627-34. 2007
  10. pmc A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States
    Clyde Francks
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 75:1046-58. 2004

Collaborators

Detail Information

Publications17

  1. pmc DCDC2, KIAA0319 and CMIP are associated with reading-related traits
    Tom S Scerri
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Biol Psychiatry 70:237-45. 2011
    ..Several susceptibility genes have been proposed for dyslexia (reading disability; RD) and specific language impairment (SLI). RD and SLI show comorbidity, but it is unclear whether a common genetic component is shared...
  2. pmc Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects
    D F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    Behav Genet 41:90-104. 2011
    ..In addition, we find association between reading-related measures and variants in CNTNAP2 and CMIP in the SLI families...
  3. pmc An allele-specific gene expression assay to test the functional basis of genetic associations
    Silvia Paracchini
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    J Vis Exp . 2010
    ..Experimental controls should be used to confirm the results...
  4. pmc Identification of candidate genes for dyslexia susceptibility on chromosome 18
    Thomas S Scerri
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS ONE 5:e13712. 2010
    ..Until now, no candidate genes have been identified to explain this linkage. Here, we set out to identify the gene(s) conferring susceptibility by a two stage strategy of linkage and association analysis...
  5. pmc PCSK6 is associated with handedness in individuals with dyslexia
    Thomas S Scerri
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK
    Hum Mol Genet 20:608-14. 2011
    ..Furthermore, PCSK6 is a protease that cleaves the left-right axis determining protein NODAL. Functional studies of PCSK6 promise insights into mechanisms underlying cerebral lateralization and dyslexia...
  6. pmc CMIP and ATP2C2 modulate phonological short-term memory in language impairment
    Dianne F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Am J Hum Genet 85:264-72. 2009
    ..This work therefore implicates CMIP and ATP2C2 in the etiology of SLI and provides molecular evidence for the importance of phonological short-term memory in language acquisition...
  7. pmc A common variant associated with dyslexia reduces expression of the KIAA0319 gene
    Megan Y Dennis
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    PLoS Genet 5:e1000436. 2009
    ..Our study thus pinpoints a common variant as altering the function of a dyslexia candidate gene and provides an illustrative example of the strategic approach needed to dissect the molecular basis of complex genetic traits...
  8. ncbi request reprint The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms
    Antonio Velayos-Baeza
    Present address Department of Biology, University of Bologna, Bologna, Italy
    Hum Mol Genet 17:859-71. 2008
    ..KIAA0319-deletion proteins lacking the TM domain were also secreted. These results suggest that KIAA0319 could be involved not only in cell-cell interactions, but also in signalling...
  9. ncbi request reprint Alternative splicing in the dyslexia-associated gene KIAA0319
    Antonio Velayos-Baeza
    Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, Oxford, UK
    Mamm Genome 18:627-34. 2007
    ..A similar RT-PCR analysis performed in mouse and rat adult brains showed that only some of the alternative splicing variants are equivalent to those found in the human gene...
  10. pmc A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States
    Clyde Francks
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 75:1046-58. 2004
    ..In addition, the QTL effect may be largely limited to the severe range of reading disability...
  11. ncbi request reprint The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration
    Silvia Paracchini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Hum Mol Genet 15:1659-66. 2006
    ..2 down-regulates the KIAA0319 gene which is required for neuronal migration during the formation of the cerebral neocortex...
  12. pmc Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry
    Silvia Paracchini
    CRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK
    Nucleic Acids Res 30:e27. 2002
    ..The technique thus provides a reliable, cost-effective and automated method for Y genotyping, and the advantages of using a hierarchical strategy can be applied to any DNA segment lacking recombination...
  13. ncbi request reprint Haplotype-specific expression of exon 10 at the human MAPT locus
    Tara M Caffrey
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Hum Mol Genet 15:3529-37. 2006
    ..291, SD=0.315, P=0.006). These data may explain the increased susceptibility of H1 carriers to neurodegeneration and suggest a potential mechanism between MAPT genetic variability and the pathogenesis of neurodegenerative disease...
  14. ncbi request reprint The genetic lexicon of dyslexia
    Silvia Paracchini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom
    Annu Rev Genomics Hum Genet 8:57-79. 2007
    ..Functional studies of these genes are offering new insights about the biological mechanisms underlying the development of dyslexia and, in general, of cognition...
  15. pmc Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia
    Alistair T Pagnamenta
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Biol Psychiatry 68:320-8. 2010
    ..A recent study of 517 ASD families implicated DOCK4 by single nucleotide polymorphism (SNP) association and a microdeletion in an affected sibling pair...
  16. pmc Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population
    S Paracchini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, United Kingdom
    Genes Brain Behav 10:158-65. 2011
    ..The high linkage disequilibrium (LD) we observed across the DYX1C1 gene suggests that the association signal might not be refined by further genetic mapping...
  17. doi request reprint Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population
    Silvia Paracchini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, OX3 7BN Oxford, UK
    Am J Psychiatry 165:1576-84. 2008
    ..In the current study, the authors tested whether the KIAA0319 gene influences reading skills in the general population, rather than having an effect restricted to reading disability...