Now showing items 1-20 of 24

    • A common variant associated with dyslexia reduces expression of the KIAA0319 gene 

      Dennis, Megan Y.; Paracchini, Silvia; Scerri, Thomas S.; Prokunina-Olsson, Ludmila; Knight, Julian C.; Wade-Martins, Richard; Coggill, Penny; Beck, Stephan; Green, Eric D.; Monaco, Anthony P. (2009-03) - Journal article
      Numerous genetic association studies have implicated the KIAA0319 gene on human chromosome 6p22 in dyslexia susceptibility. The causative variant(s) remains unknown but may modulate gene expression, given that (1) a ...
    • Common variants in left/right asymmetry genes and pathways are associated with relative hand skill 

      Brandler, William; Morris, Andrew; Evans, David; Scerri, Thomas; Kemp, John; Timpson, Nicholas; St Pourcain, Beate; Davey Smith, George; Ring, Susan; Stein, John; Monaco, Anthony; Talcott, Joel; Fisher, Simon; Webber, Caleb; Paracchini, Silvia (2013-09-12) - Journal article
      Humans display structural and functional asymmetries in brain organization, strikingly with respect to language and handedness. The molecular basis of these asymmetries is unknown. We report a genome-wide association study ...
    • Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment 

      Pettigrew, Kerry A.; Reeves, Emily; Leavett, Ruth; Hayiou-Thomas, Marianna E.; Sharma, Anahita; Simpson, Nuala H.; Martinelli, Angela; Thompson, Paul; Hulme, Charles; Snowling, Margaret J.; Newbury, Dianne F.; Paracchini, Silvia (2015-08-11) - Journal article
      A significant proportion of children (up to 7% in the UK) present with pronounced language difficulties that cannot be explained by obvious causes like other neurological and medical conditions. A substantial genetic ...
    • The DCDC2 deletion is not a risk factor for dyslexia 

      Scerri, Thomas S.; Macpherson, Ellen; Martinelli, Angela; Wa, Wong Cheuk; Monaco, Anthony P.; Stein, John; Zheng, Mo; Ho, Connie Suk-Han; McBride, Catherine; Snowling, Margaret; Hulme, Charles; Hayiou-Thomas, Marianna E.; Waye, Mary M. Y.; Talcott, Joel B.; Paracchini, Silvia (2017-07-25) - Journal article
      Dyslexia is a specific impairment in learning to read and has strong heritability. An intronic deletion within the DCDC2 gene, with ~8% frequency in European populations, is increasingly used as a marker for dyslexia in ...
    • Dissection of genetic associations with language-related traits in population-based cohorts 

      Paracchini, Silvia (2011) - Journal item
      Recent advances in the field of language-related disorders have led to the identification of candidate genes for specific language impairment (SLI) and dyslexia. Replication studies have been conducted in independent samples ...
    • The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure 

      Scerri, Thomas S.; Darki, Fahimeh; Newbury, Dianne F.; Whitehouse, Andrew J. O.; Peyrard-Janvid, Myriam; Matsson, Hans; Ang, Qi W.; Pennell, Craig E.; Ring, Susan; Stein, John; Morris, Andrew P.; Monaco, Anthony P.; Kere, Juha; Talcott, Joel B.; Klingberg, Torkel; Paracchini, Silvia (2012-11-28) - Journal article
      Independent studies have shown that candidate genes for dyslexia and specific language impairment (SLI) impact upon reading/language-specific traits in the general population. To further explore the effect of disorder-associated ...
    • The dyslexia susceptibility KIAA0319 gene shows a specific expression pattern during zebrafish development supporting a role beyond neuronal migration 

      Gostic, Monika; Martinelli, Angela; Tucker, Carl; Yang, Zhengyi; Gasparoli, Federico Maria; Ewart, Jade-Yi; Dholakia, Kishan; Sillar, Keith; Tello, Javier; Paracchini, Silvia (2019-04-04) - Journal article
      Dyslexia is a common neurodevelopmental disorder caused by a significant genetic component. The KIAA0319 gene is one of the most robust dyslexia susceptibility factors but its function remains poorly understood. Initial ...
    • A functional characterisation of the PCSK6 locus associated with handedness 

      Shore, Robert (University of St Andrews, 2016-06-20) - Thesis
      Humans display a 90% population level bias towards right-handedness, implying the vast majority of people have a left-hemisphere dominant for motor control. Although handedness presents a weak, but very consistent heritability ...
    • Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes 

      Pettigrew, Kerry Andrea; Frinton, Emily; Nudel, Ron; Chan, May T. M.; Thompson, Paul; Hayiou-Thomas, Marianna E.; Talcott, Joel B.; Stein, John; Monaco, Anthony P.; Hulme, Charles; Snowling, Margaret J.; Newbury, Diane F.; Paracchini, Silvia (2016-06-14) - Journal article
      Background: Specific Language Impairment (SLI) is a common neurodevelopmental disorder, observed in 5-10% of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have ...
    • Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort 

      Becker, Jessica; Czamara, Darina; Scerri, Tom S; Ramus, Franck; Csépe, Valéria; Talcott, Joel B; Stein, John; Morris, Andrew; Ludwig, Kerstin U; Hoffmann, Per; Honbolygó, Ferenc; Tóth, Dénes; Fauchereau, Fabien; Bogliotti, Caroline; Iannuzzi, Stéphanie; Chaix, Yves; Valdois, Sylviane; Billard, Catherine; George, Florence; Soares-Boucaud, Isabelle; Gérard, Christophe-Loïc; van der Mark, Sanne; Schulz, Enrico; Vaessen, Anniek; Maurer, Urs; Lohvansuu, Kaisa; Lyytinen, Heikki; Zucchelli, Marco; Brandeis, Daniel; Blomert, Leo; Leppänen, Paavo Ht; Bruder, Jennifer; Monaco, Anthony P; Müller-Myhsok, Bertram; Kere, Juha; Landerl, Karin; Nöthen, Markus M; Schulte-Körne, Gerd; Paracchini, Silvia; Peyrard-Janvid, Myriam; Schumacher, Johannes (2014-05) - Journal article
      Dyslexia is one of the most common childhood disorders with a prevalence of around 5-10% in school-age children. Although an important genetic component is known to have a role in the aetiology of dyslexia, we are far from ...
    • The genetic relationship between handedness and neurodevelopmental disorders 

      Brandler, William M.; Paracchini, Silvia (2014-02) - Journal article
      Handedness and brain asymmetry have been linked to neurodevelopmental disorders such as dyslexia and schizophrenia. The genetic nature of this correlation is not understood. Recent discoveries have shown handedness is ...
    • Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment 

      Nudel, Ron; Simpson, Nuala H; Baird, Gillian; O'Hare, Anne; Conti-Ramsden, Gina; Bolton, Patrick F; Hennessy, Elizabeth R; Ring, Susan M; Smith, George Davey; Francks, Clyde; Paracchini, Silvia; Monaco, Anthony P; Fisher, Simon E; Newbury, Dianne F; The SLI Consortium (2014-04) - Journal article
      Specific language impairment (SLI) is a neurodevelopmental disorder that affects linguistic abilities when development is otherwise normal. We report the results of a genome-wide association study of SLI which included ...
    • Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia 

      Gialluisi, Alessandro; Andlauer, Till F. M.; Mirza-schreiber, Nazanin; Moll, Kristina; Becker, Jessica; Hoffmann, Per; Ludwig, Kerstin U.; Czamara, Darina; St Pourcain, Beate; Brandler, William; Honbolygó, Ferenc; Tóth, Dénes; Csépe, Valéria; Huguet, Guillaume; Morris, Andrew P.; Hulslander, Jacqueline; Willcutt, Erik G.; Defries, John C.; Olson, Richard K.; Smith, Shelley D.; Pennington, Bruce F.; Vaessen, Anniek; Maurer, Urs; Lyytinen, Heikki; Peyrard-janvid, Myriam; Leppänen, Paavo H. T.; Brandeis, Daniel; Bonte, Milene; Stein, John F.; Talcott, Joel B.; Fauchereau, Fabien; Wilcke, Arndt; Francks, Clyde; Bourgeron, Thomas; Monaco, Anthony P.; Ramus, Franck; Landerl, Karin; Kere, Juha; Scerri, Thomas S.; Paracchini, Silvia; Fisher, Simon E.; Schumacher, Johannes; Nöthen, Markus M.; Müller-myhsok, Bertram; Schulte-körne, Gerd (2019-02-11) - Journal article
      Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), ...
    • Genome-wide screening for DNA variants associated with reading and language traits 

      Gialluisi, Alessandro; Newbury, Dianne F; Wilcutt, Erik G; Olson, Richard K; DeFries, John C; Brandler, William M; Pennington, Bruce F; Smith, Shelley D; Scerri, Thomas S; Simpson, Nuala H; Luciano, Michelle; Evans, David M; Bates, Timothy C; Stein, John F; Talcott, Joel B; Monaco, Anthony P; Paracchini, Silvia; Francks, Clyde; Fisher, Simon E; The SLI Consortium (2014-09) - Journal article
      Reading and language abilities are heritable traits that are likely to share some genetic influences with each other. To identify pleiotropic genetic variants affecting these traits, we first performed a Genome-wide ...
    • Genomic imprinting as a window into human language evolution 

      Hitchcock, Thomas; Paracchini, Silvia; Gardner, Andy (2019-06) - Journal article
      Humans spend large portions of their time and energy talking to one another, yet it remains unclear whether this activity is primarily selfish or altruistic. Here, it is shown how parent‐of‐origin specific gene expression—or ...
    • The handedness-associated PCSK6 locus spans an intronic promoter regulating novel transcripts 

      Shore, Robert Joseph; Covill, Laura; Pettigrew, Kerry Andrea; Brandler, William A.; Diaz Vazquez, Rebeca; Xu, Yiwang; Tello, Javier; Talcott, Joel B.; Newbury, Dianne F.; Stein, John; Monaco, Anthony P.; Paracchini, Silvia (2016-05-01) - Journal article
      We recently reported the association of the PCSK6 gene with handedness through a quantitative genome-wide association study (GWAS; P < 0.5 x 10-8) for a relative hand skill measure in individuals with dyslexia. PCSK6 ...
    • Identification of candidate genes for dyslexia susceptibility on chromosome 18 

      Scerri, Thomas S.; Paracchini, Silvia; Morris, Andrew; MacPhie, I. Laurence; Talcott, Joel; Stein, John; Smith, Shelley D.; Pennington, Bruce F.; Olson, Richard K.; DeFries, John C.; Monaco, Anthony P. (2010-10-28) - Journal article
      Background: Six independent studies have identified linkage to chromosome 18 for developmental dyslexia or general reading ability. Until now, no candidate genes have been identified to explain this linkage. Here, we set ...
    • Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia 

      Simpson, Nuala H; Addis, Laura; Brandler, William M; Slonims, Vicky; Clark, Ann; Watson, Jocelynne; Scerri, Thomas S; Hennessy, Elizabeth R; Bolton, Patrick F; Conti-Ramsden, Gina; Fairfax, Benjamin P; Knight, Julian C; Stein, John; Talcott, Joel B; O'Hare, Anne; Baird, Gillian; Paracchini, Silvia; Fisher, Simon E; Newbury, Dianne F; Consortium, Sli (2014-04) - Journal article
      Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency ...
    • Lack of replication for the myosin-18B association with mathematical ability in independent cohorts 

      Pettigrew, Kerry A; Fajutrao Valles, Samuelle F; Moll, Kristina; Northstone, Kate; Ring, Susan; Pennell, Craig; Wang, Carol; Leavett, Ruth; Hayiou-Thomas, Marianna E; Thompson, Paul; Simpson, Nuala H; Fisher, Simon E; Whitehouse, Andrew J O; Snowling, Margaret J; Newbury, Dianne F; Paracchini, Silvia; SLI Consortium (2015-04-23) - Journal article
      Twin studies indicate that dyscalculia (or mathematical disability) is caused partly by a genetic component, which is yet to be understood at the molecular level. Recently, a coding variant (rs133885) in the myosin-18B ...
    • The neuronal migration hypothesis of dyslexia : a critical evaluation 30 years on 

      Guidi, Luiz G.; Velayos-Baeza, Antonio; Martinez-Garay, Isabel; Monaca, Anthony P.; Paracchini, Silvia; Bishop, Dorothy V.M.; Molnár, Zoltán (2018-11) - Journal item
      The capacity for language is one of the key features underlying the complexity of human cognition and its evolution. However, little is known about the neurobiological mechanisms that mediate normal or impaired linguistic ...