S
Silvia Paracchini
Researcher at University of St Andrews
Publications - 86
Citations - 4441
Silvia Paracchini is an academic researcher from University of St Andrews. The author has contributed to research in topics: Dyslexia & DCDC2. The author has an hindex of 33, co-authored 78 publications receiving 3835 citations. Previous affiliations of Silvia Paracchini include Technical University of Denmark & Wellcome Trust Centre for Human Genetics.
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Journal ArticleDOI
The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration
Silvia Paracchini,Ankur M Thomas,Sandra Castro,Cecilia Lai,Murugan Paramasivam,Yu Wang,Brendan J. Keating,Jennifer M. Taylor,Douglas F. Hacking,Thomas S. Scerri,Clyde Francks,Alex J. Richardson,Richard Wade-Martins,John F. Stein,Julian C. Knight,Andrew J. Copp,Joseph J. LoTurco,Anthony P. Monaco +17 more
TL;DR: The data suggest a direct link between a specific genetic background and a biological mechanism leading to the development of dyslexia: the risk haplotype on chromosome 6p22.2 down-regulates the KIAA0319 gene which is required for neuronal migration during the formation of the cerebral neocortex.
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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,Silvia Paracchini,Shelley D. Smith,Alex J. Richardson,Thomas S. Scerri,Lon R. Cardon,Angela J. Marlow,I. Laurence MacPhie,J. Walter,Bruce F. Pennington,Simon E. Fisher,Richard K. Olson,John C. DeFries,John F. Stein,Anthony P. Monaco +14 more
TL;DR: The association study implicates a 77-kb region spanning the gene TTRAP and the first four exons of the neighboring uncharacterized gene KIAA0319, which has no significant impact on general cognitive performance in these samples.
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Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects
Dianne F. Newbury,Silvia Paracchini,Thomas S. Scerri,Laura Winchester,Laura Addis,Alex J. Richardson,J. Walter,John F. Stein,Joel B. Talcott,Anthony P. Monaco +9 more
TL;DR: The role of variants in these genes (namely MRPL19/C20RF3,ROBO1,DCDC2, KIAA0319, DYX1C1, CNTNAP2, ATP2C2 and CMIP) in the aetiology of SLI and dyslexia is investigated.
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A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N.
Susana Fernandes,Susana Fernandes,Silvia Paracchini,L.H. Meyer,Giovanna Floridia,Chris Tyler-Smith,Peter H. Vogt +6 more
TL;DR: It is concluded that a common variant of the human Y chromosome lacks the DAZ3/DAZ4 and BPY 2.2/BPY2.3 doublets in distal AZFc and thus that these genes cannot be required for male fertility; the gene content of the AZfc locus is likely to be genetically redundant.
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A predominantly neolithic origin for Y-chromosomal DNA variation in North Africa
Barbara Arredi,Barbara Arredi,Barbara Arredi,Estella S. Poloni,Silvia Paracchini,Tatiana Zerjal,Dahmani M. Fathallah,Mohamed Makrelouf,Vincenzo Lorenzo Pascali,Andrea Novelletto,Chris Tyler-Smith,Chris Tyler-Smith +11 more
TL;DR: The Neolithic transition in this part of the world was accompanied by demic diffusion of Afro-Asiatic-speaking pastoralists from the Middle East, and it is suggested that the North African pattern of Y-chromosomal variation is largely of Neolithic origin.