Genome-wide screening for DNA variants associated with reading and language traits

Genes, Brain and Behavior

Volumn 13, Issue 7, 2014, Pages 686-701

  Gialluisi, A ^a   Newbury, D F ^b   Wilcutt, E G ^c   Olson, R K ^c   DeFries, J C ^c   Brandler, W M ^b,d   Pennington, B F ^e   Smith, S D ^f   Scerri, T S ^g   Simpson, N H ^b   Luciano, M ^h   Evans, D M ^i,j   Bates, T C ^h,k   Stein, J F ^d   Talcott, J B ^l   Monaco, A P ^b,m   Paracchini, S ⁿ   Francks, C ^a,o   Fisher, S E ^a,o   Nudel, R ^b   Baird, G ^p   Slonims, V ^p   Dworzynski, K ^p   Bolton, P F ^q   Simonoff, E ^q   O'Hare A ^h   Seckl, J ^h   Cowie, H ^r   Clark, A ^s   Watson, J ^s   Cohen, W ^t   Everitt, A ^u   Hennessy, E R ^u   Shaw, D ^u   Helms, P J ^u   Simkin, Z ^v   Conti Ramsden, G ^v   Bishop, D V M ^d   Pickles, A ^w   more..

^a MAX PLANCK INSTITUTE FOR PSYCHOLINGUISTICS   (Netherlands)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF COLORADO   (United States)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e UNIVERSITY OF DENVER   (United States)

^f UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^g WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^h UNIVERSITY OF EDINBURGH   (United Kingdom)

ⁱ UNIVERSITY OF BRISTOL   (United Kingdom)

^j UNIVERSITY OF QUEENSLAND   (Australia)

^k QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^l ASTON UNIVERSITY   (United Kingdom)

^m TUFTS UNIVERSITY   (United States)

ⁿ UNIVERSITY OF ST ANDREWS   (United Kingdom)

^o RADBOUD UNIVERSITY   (Netherlands)

^p GUY S HOSPITAL   (United Kingdom)

^q MEDICAL RESEARCH COUNCIL   (United Kingdom)

^r ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^s QUEEN MARGARET UNIVERSITY   (United Kingdom)

^t UNIVERSITY OF STRATHCLYDE   (United Kingdom)

^u UNIVERSITY OF ABERDEEN   (United Kingdom)

^v UNIVERSITY OF MANCHESTER   (United Kingdom)

^w KING'S COLLEGE LONDON   (United Kingdom)

more..

Author keywords

CLDRC; GWAS; SLIC; Developmental dyslexia; Language; Meta analysis; Pleiotropic variants; Reading; Reading disability; Specific language impairment

Indexed keywords

DNA; FLNC PROTEIN; PROTEIN; RBFOX2 PROTEIN; UNCLASSIFIED DRUG; CCDC136 PROTEIN, HUMAN; RBFOX2 PROTEIN, HUMAN; REPRESSOR PROTEIN; RNA BINDING PROTEIN; TUMOR PROTEIN;

ADOLESCENT; ADULT; ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; CHILD; CHROMOSOME 22Q; CYTOSKELETON; DYSLEXIA; GENE IDENTIFICATION; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRAIT; GENETIC VARIABILITY; HUMAN; INTELLIGENCE QUOTIENT; LANGUAGE; LANGUAGE ABILITY; LANGUAGE DISABILITY; MAJOR CLINICAL STUDY; META ANALYSIS (TOPIC); NERVE CELL; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; FEMALE; GENETICS; HUMAN GENOME; LANGUAGE TEST; MALE; PLEIOTROPY;

ADOLESCENT; CASE-CONTROL STUDIES; CHILD; DYSLEXIA; FEMALE; GENETIC PLEIOTROPY; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LANGUAGE TESTS; MALE; NEOPLASM PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRESSOR PROTEINS; RNA-BINDING PROTEINS;

EID: 84907811445     PISSN: 16011848     EISSN: 1601183X     Source Type: Journal    
DOI: 10.1111/gbb.12158     Document Type: Article

References (100)

1. Anthoni, H., Zucchelli, M., Matsson, H., Muller-Myhsok, B., Fransson, I., Schumacher, J., Massinen, S., Onkamo, P., Warnke, A., Griesemann, H., Hoffmann, P., Nopola-Hemmi, J., Lyytinen, H., Schulte-Korne, G., Kere, J., Nothen, M.M. & Peyrard-Janvid, M. (2007) A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Hum Mol Genet 16, 667-677.
2. Ayub, Q., Yngvadottir, B., Chen, Y., Xue, Y., Hu, M., Vernes, S.C., Fisher, S.E. & Tyler-Smith, C. (2013) FOXP2 targets show evidence of positive selection in European populations. Am J Hum Genet 92, 696-706.
3. Barry, J.G., Yasin, I. & Bishop, D.V. (2007) Heritable risk factors associated with language impairments. Genes Brain Behav 6, 66-76.
4. Bates, T.C., Luciano, M., Castles, A., Coltheart, M., Wright, M.J. & Martin, N.G. (2007) Replication of reported linkages for dyslexia and spelling and suggestive evidence for novel regions on chromosomes 4 and 17. Eur J Hum Genet 15, 194-203.
5. Bates, T.C., Luciano, M., Medland, S.E., Montgomery, G.W., Wright, M.J. & Martin, N.G. (2011) Genetic variance in a component of the language acquisition device: ROBO1 polymorphisms associated with phonological buffer deficits. Behav Genet 41, 50-57.
6. Becker, J., Czamara, D., Scerri, T.S. et al. (2013) Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort. Eur J Hum Genet 22, 675-680.
7. Bishop, D.V. (1994) Is specific language impairment a valid diagnostic category? Genetic and psycholinguistic evidence. Philos Trans R Soc Lond B Biol Sci 346, 105-111.
8. Bishop, D.V.M. & Snowling, M.J. (2004) Developmental dyslexia and specific language impairment: same or different? Psychol Bull 130, 858-886.
9. Boyd, A., Golding, J., Macleod, J., Lawlor, D.A., Fraser, A., Henderson, J., Molloy, L., Ness, A., Ring, S. & Davey Smith, G. (2013) Cohort profile: the 'Children of the 90s'-the index offspring of the Avon Longitudinal Study of Parents and Children. Int J Epidemiol 42, 111-127.
10. Brandler, W.M., Morris, A.P., Evans, D.M., Scerri, T.S., Kemp, J.P., Timpson, N.J., St Pourcain, B., Smith, G.D., Ring, S.M., Stein, J., Monaco, A.P., Talcott, J.B., Fisher, S.E., Webber, C. & Paracchini, S. (2013) Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. PLoS Genet 9, e1003751.
11. Carrion-Castillo, A., Franke, B. & Fisher, S.E. (2013) Molecular genetics of dyslexia: an overview. Dyslexia 19, 214-240.
12. Castles, A. & Coltheart, M. (1993) Varieties of developmental dyslexia. Cognition 47, 149-180.
13. Ceroni, F., Simpson, N.H., Francks, C., Baird, G., Conti-Ramsden, G., Clark, A., Bolton, P.F., Hennessy, E.R., Donnelly, P., Bentley, D.R., Martin, H., Parr, J., Pagnamenta, A.T., Maestrini, E., Bacchelli, E., Fisher, S.E. & Newbury, D.F. (2014) Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. Eur J Hum Genet. DOI:10.1038/ejhg.2014.4.
14. Clarke, T., Strug, L.J., Murphy, P.L., Bali, B., Carvalho, J., Foster, S., Tremont, G., Gagnon, B.R., Dorta, N. & Pal, D.K. (2007) High risk of reading disability and speech sound disorder in Rolandic epilepsy families: case-control study. Epilepsia 48, 2258-2265.
15. Coltheart, M. & Leahy, J. (1996) Assessment of lexical and non-lexical reading abilities in children: some normative data. Aust J Psychol 48, 136-140.
16. Compton, D.L., DeFries, J.C. & Olson, R.K. (2001) Are RAN- and phonological awareness-deficits additive in children with reading disabilities? Dyslexia 7, 125-149.
17. Cope, N., Harold, D., Hill, G., Moskvina, V., Stevenson, J., Holmans, P., Owen, M.J., O'Donovan, M.C. & Williams, J. (2005) Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. Am J Hum Genet 76, 581-591.
18. DeFries, J.C., Filipek, P.A., Fulker, D.W., Olson, R.K., Pennington, B.F., Smith, S.D. & Wise, B.W. (1997) Colorado Learning Disabilities Research Center. Learn Disabil Multidisciplinary J 8, 7-19.
19. Duff, R.M., Tay, V., Hackman, P. et al. (2011) Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet 88, 729-740.
20. Dunn, L.M. & Markwardt, F.C. (1970) Examiner's Manual: Peabody Individual Achievement Test. American Guidance Service, Circle Pines, MN.
21. Eicher, J.D., Powers, N.R., Miller, L.L. et al. (2013) Genome-wide association study of shared components of reading disability and language impairment. Genes Brain Behav 8, 792-801.
22. Elliot, C.D., Murray, D.J. & Pearson, L.S. (1979) The British Ability Scales. NFER, Slough, UK.
23. Falcaro, M., Pickles, A., Newbury, D.F., Addis, L., Banfield, E., Fisher, S.E., Monaco, A.P., Simkin, Z. & Conti-Ramsden, G. (2008) Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment. Genes Brain Behav 7, 393-402.
24. Ferreira, M.A. & Purcell, S.M. (2009) A multivariate test of association. Bioinformatics 25, 132-133.
25. Field, A. (2005) Discovering Statistics Using SPSS. SAGE, London, UK.
26. Field, L.L., Shumansky, K., Ryan, J., Truong, D., Swiergala, E. & Kaplan, B.J. (2013) Dense-map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36. Genes Brain Behav 12, 56-69.
27. Fisher, S.E. & DeFries, J.C. (2002) Developmental dyslexia: genetic dissection of a complex cognitive trait. Nat Rev Neurosci 3, 767-780.
28. Fisher, S.E. & Scharff, C. (2009) FOXP2 as a molecular window into speech and language. Trends Genet 25, 166-177.
29. Francks, C., Paracchini, S., Smith, S.D., Richardson, A.J., Scerri, T.S., Cardon, L.R., Marlow, A.J., MacPhie, I.L., Walter, J., Pennington, B.F., Fisher, S.E., Olson, R.K., DeFries, J.C., Stein, J.F. & Monaco, A.P. (2004) A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. Am J Hum Genet 75, 1046-1058.
30. Frederickson, N. (1995) Phonological Assessment Battery. Educational Psychology Publishing, London, UK.
31. Friend, A. & Olson, R.K. (2010) Phonological spelling and reading deficits in children with spelling disabilities. Sci Stud Read 12, 90-105.
32. Galaburda, A.M. & Cestnick, L. (2003) Developmental dyslexia. Rev Neurol 36 (Suppl 1), 3-9.
33. Gallagher, A. & Frederickson, N. (1995) The phonological assessment battery (PhAB): an initial assessment of its theoretical and practical utility. Educ Child Psychol 12, 53-67.
34. Gathercole, S.E., Willis, C.S., Baddeley, A.D. & Emslie, H. (1994) The children's test of nonword repetition: a test of phonological working memory. Memory 2, 103-127.
35. Gehman, L.T., Meera, P., Stoilov, P., Shiue, L., O'Brien, J.E., Meisler, M.H., Ares, M., Otis, T.S. & Black, D.L. (2012) The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function. Genes Dev 26, 445-460.
36. Good, C.D., Johnsrude, I., Ashburner, J., Henson, R.N., Friston, K.J. & Frackowiak, R.S. (2001) Cerebral asymmetry and the effects of sex and handedness on brain structure: a voxel-based morphometric analysis of 465 normal adult human brains. Neuroimage 14, 685-700.
37. Hannula-Jouppi, K., Kaminen-Ahola, N., Taipale, M., Eklund, R., Nopola-Hemmi, J., Kääriäinen, H. & Kere, J. (2005) The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS Genet 1, e50.
38. Harlaar, N., Hayiou-Thomas, M.E., Dale, P.S. & Plomin, R. (2008) Why do preschool language abilities correlate with later reading? A twin study. J Speech Lang Hear Res 51, 688-705.
39. Hawrylycz, M.J., Lein, E.S., Guillozet-Bongaarts, A.L. et al. (2012) An anatomically comprehensive atlas of the adult human brain transcriptome. Nature 489, 391-399.
40. Howie, B., Fuchsberger, C., Stephens, M., Marchini, J. & Abecasis, G.R. (2012) Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet 44, 955-959.
41. Ioannidis, J.P.A. (2008) Why most discovered true associations are inflated. Epidemiology 19, 640-648.
42. Jastak, S. & Wilkinson, G.S. (1984) Wide Range Achievement Test - Revised (WRAT-R). The Psychological Corporation, San Antonio, TX.
43. Kaminen, N., Hannula-Jouppi, K., Kestilä, M., Lahermo, P., Muller, K., Kaaranen, M., Myllyluoma, B., Voutilainen, A., Lyytinen, H., Nopola-Hemmi, J. & Kere, J. (2003) A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32. J Med Genet 40, 340-345.
44. Lal, D., Reinthaler, E.M., Altmüller, J., Toliat, M.R., Thiele, H., Nürnberg, P., Lerche, H., Hahn, A., Møller, R.S., Muhle, H., Sander, T., Zimprich, F. & Neubauer, B.A. (2013) RBFOX1 and RBFOX3 mutations in Rolandic epilepsy. PLoS One 8, e73323.
45. Lee, P.H., O'Dushlaine, C., Thomas, B. & Purcell, S.M. (2012) INRICH: interval-based enrichment analysis for genome-wide association studies. Bioinformatics 28, 1797-1799.
46. Liu, J.Z., McRae, A.F., Nyholt, D.R., Medland, S.E., Wray, N.R., Brown, K.M., Hayward, N.K., Montgomery, G.W., Visscher, P.M., Martin, N.G. & Macgregor, S. (2010) A versatile gene-based test for genome-wide association studies. Am J Hum Genet 87, 139-145.
47. Logan, J., Petrill, S., Flax, J., Justice, L., Hou, L., Bassett, A., Tallal, P., Brzustowicz, L. & Bartlett, C. (2011) Genetic covariation underlying reading, language and related measures in a sample selected for specific language impairment. Behav Genet 41, 651-659.
48. Lombardo, M.V., Ashwin, E., Auyeung, B., Chakrabarti, B., Taylor, K., Hackett, G., Bullmore, E.T. & Baron-Cohen, S. (2012) Fetal testosterone influences sexually dimorphic gray matter in the human brain. J Neurosci 32, 674-680.
49. Luciano, M., Lind, P.A., Duffy, D.L., Castles, A., Wright, M.J., Montgomery, G.W., Martin, N.G. & Bates, T.C. (2007) A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability. Biol Psychiatry 62, 811-817.
50. Luciano, M., Evans, D.M., Hansell, N.K., Medland, S.E., Montgomery, G.W., Martin, N.G., Wright, M.J. & Bates, T.C. (2013) A genome-wide association study for reading and language abilities in two population cohorts. Genes Brain Behav 12, 645-652.
51. Massinen, S., Tammimies, K., Tapia-Páez, I., Matsson, H., Hokkanen, M.-E., Söderberg, O., Landegren, U., Castrén, E., Gustafsson, J.-Å., Treuter, E. & Kere, J. (2009) Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia. Hum Mol Genet 18, 2802-2812.
52. McArthur, G.M., Hogben, J.H., Edwards, V.T., Heath, S.M. & Mengler, E.D. (2000) On the "specifics" of specific reading disability and specific language impairment. J Child Psychol Psychiatry 41, 869-874.
53. Meaburn, E.L., Harlaar, N., Craig, I.W., Schalkwyk, L.C. & Plomin, R. (2008) Quantitative trait locus association scan of early reading disability and ability using pooled DNA and 100K SNP microarrays in a sample of 5760 children. Mol Psychiatry 13, 729-740.
54. Meng, H., Smith, S.D., Hager, K., Held, M., Liu, J., Olson, R.K., Pennington, B.F., DeFries, J.C., Gelernter, J., O'Reilly-Pol, T., Somlo, S., Skudlarski, P., Shaywitz, S.E., Shaywitz, B.A., Marchione, K., Wang, Y., Paramasivam, M., LoTurco, J.J., Page, G.P. & Gruen, J.R. (2005) DCDC2 is associated with reading disability and modulates neuronal development in the brain. Proc Natl Acad Sci U S A 102, 17053-17058.
55. Newbury, D.F. & Monaco, A.P. (2010) Genetic advances in the study of speech and language disorders. Neuron 68, 309-320.
56. Newbury, D.F., Winchester, L., Addis, L. et al. (2009) CMIP and ATP2C2 modulate phonological short-term memory in language impairment. Am J Hum Genet 85, 264-272.
57. Newbury, D.F., Paracchini, S., Scerri, T.S., Winchester, L., Addis, L., Richardson, A.J., Walter, J., Stein, J.F., Talcott, J.B. & Monaco, A.P. (2011) Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects. Behav Genet 41, 90-104.
58. Nudel, R., Simpson, N.H., Baird, G., O'Hare, A., Conti-Ramsden, G., Bolton, P.F., Hennessy, E.R., the SLIC, Ring, S.M., Smith, G.D., Francks, C., Paracchini, S., Monaco, A.P., Fisher, S.E. & Newbury, D.F. (2014) Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment. Genes Brain Behav 13, 418-429.
59. Olson, R., Wise, B., Conners, F., Rack, J. & Fulker, D. (1989) Specific deficits in component reading and language skills: genetic and environmental influences. J Learn Disabil 22, 339-348.
60. Olson, R., Forsberg, H., Wise, B. & Rack, J. (1994a) Measurement of word recognition, orthographic, and phonological skills. In Lyon, G.R. (ed), Frames of Reference for the Assessment of Learning Disabilities: New Views on Measurement Issues. Paul H. Brookes, Baltimore, MD, pp. 243-278.
61. Olson, R., Forsberg, H. & Wise, B. (1994b) Genes, environment, and the development of orthographic skills. In Berninger, V.W. (ed), The Varieties of Orthographic Knowledge I: Theoretical and Developmental Issues. Kluwer Academics, Dordrecht, The Netherlands, pp. 27-71.
62. Paracchini, S. (2011) Dissection of genetic associations with language-related traits in population-based cohorts. J Neurodev Disord 3, 365-373.
63. Paracchini, S., Steer, M.S.C., Buckingham, B.S.L.-L., Morris, P.D.A., Ring, P.D.S., Scerri, D.P.T., Stein, F.R.C.P.J., Pembrey, M.D.M., Ragoussis, P.D.J., Golding, P.D.J. & Monaco, P.D.A. (2008) Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population. Am J Psychiatry 165, 1576-1584.
64. Paracchini, S., Ang, Q.W., Stanley, F.J., Monaco, A.P., Pennell, C.E. & Whitehouse, A.J. (2011) Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population. Genes Brain Behav 10, 158-165.
65. Pennington, B.F. (2006) From single to multiple deficit models of developmental disorders. Cognition 101, 385-413.
66. Pennington, B.F. & Bishop, D.V. (2009) Relations among speech, language, and reading disorders. Annu Rev Psychol 60, 283-306.
67. Peschansky, V.J., Burbridge, T.J., Volz, A.J., Fiondella, C., Wissner-Gross, Z., Galaburda, A.M., Turco, J.J.L. & Rosen, G.D. (2010) The effect of variation in expression of the candidate dyslexia susceptibility gene homolog Kiaa0319 on neuronal migration and dendritic morphology in the rat. Cereb Cortex 20, 884-897.
68. Peterson, R.L. & Pennington, B.F. (2012) Developmental dyslexia. Lancet 379, 1997-2007.
69. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J. & Sham, P.C. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81, 559-575.
70. R Core Team (2013) R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing, Vienna, Austria.
71. Robertson, S.P. (2005) Filamin A: phenotypic diversity. Curr Opin Genet Dev 15, 301-307.
72. Roeske, D., Ludwig, K.U., Neuhoff, N., Becker, J., Bartling, J., Bruder, J., Brockschmidt, F.F., Warnke, A., Remschmidt, H., Hoffmann, P., Muller-Myhsok, B., Nothen, M.M. & Schulte-Korne, G. (2011) First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children. Mol Psychiatry 16, 97-107.
73. Rust, J., Golombok, S. & Trickey, G. (1993) Wechsler Objective Reading Dimensions. Psychological Corporation, Sidcup, UK.
74. Scerri, T.S., Brandler, W.M., Paracchini, S., Morris, A.P., Ring, S.M., Richardson, A.J., Talcott, J.B., Stein, J. & Monaco, A.P. (2011a) PCSK6 is associated with handedness in individuals with dyslexia. Hum Mol Genet 20, 608-614.
75. Scerri, T.S., Morris, A.P., Buckingham, L.-L., Newbury, D.F., Miller, L.L., Monaco, A.P., Bishop, D.V.M. & Paracchini, S. (2011b) DCDC2, KIAA0319 and CMIP are associated with reading-related traits. Biol Psychiatry 70, 237-245.
76. Semel, E.M., Wiig, E.H. & Secord, W. (1992) Clinical Evaluation of Language Fundamentals - Revised. Psychological Corporation, San Antonio, TX.
77. Shapleske, J., Rossell, S.L., Woodruff, P.W.R. & David, A.S. (1999) The planum temporale: a systematic, quantitative review of its structural, functional and clinical significance. Brain Res Rev 29, 26-49.
78. Shaywitz, S.E., Shaywitz, B.A., Fletcher, J.M. & Escobar, M.D. (1990) Prevalence of reading disability in boys and girls. Results of the Connecticut Longitudinal Study. JAMA 264, 998-1002.
79. Simpson, N.H., Addis, L., Brandler, W.M., Slonims, V., Clark, A., Watson, J., Scerri, T.S., Hennessy, E.R., Bolton, P.F., Conti-Ramsden, G., Fairfax, B.P., Knight, J.C., Stein, J., Talcott, J.B., O'Hare, A., Baird, G., Paracchini, S., Fisher, S.E., Newbury, D.F. & Consortium, S.L.I (2014) Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. Dev Med Child Neurol 4, 346-353.
80. Snowling, M., Bishop, D.V. & Stothard, S.E. (2000) Is preschool language impairment a risk factor for dyslexia in adolescence? J Child Psychol Psychiatry 41, 587-600.
81. Taipale, M., Kaminen, N., Nopola-Hemmi, J., Haltia, T., Myllyluoma, B., Lyytinen, H., Muller, K., Kaaranen, M., Lindsberg, P.J., Hannula-Jouppi, K. & Kere, J. (2003) A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proc Natl Acad Sci U S A 100, 11553-11558.
82. Tammimies, K., Tapia-Páez, I., Rüegg, J., Rosin, G., Kere, J., Gustafsson, J.-Å. & Nalvarte, I. (2012) The rs3743205 SNP is important for the regulation of the dyslexia candidate gene DYX1C1 by estrogen receptor β and DNA methylation. Mol Endocrinol 26, 619-629.
83. Tammimies, K., Vitezic, M., Matsson, H., Le Guyader, S., Burglin, T.R., Ohman, T., Stromblad, S., Daub, C.O., Nyman, T.A., Kere, J. & Tapia-Paez, I. (2013) Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins. Biol Psychiatry 73, 583-590.
84. The International HapMap 3 Consortium (2010) Integrating common and rare genetic variation in diverse human populations. Nature 467, 52-58.
85. The SLI Consortium (2002) A genomewide scan identifies two novel loci involved in specific language impairment. Am J Hum Genet 70, 384-398.
86. The SLI Consortium (2004) Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment. Am J Hum Genet 74, 1225-1238.
87. Tomblin, J.B., Records, N.L., Buckwalter, P., Zhang, X., Smith, E. & O'Brien, M. (1997) Prevalence of specific language impairment in kindergarten children. J Speech Lang Hear Res 40, 1245-1260.
88. Vernes, S.C., Newbury, D.F., Abrahams, B.S., Winchester, L., Nicod, J., Groszer, M., Alarcon, M., Oliver, P.L., Davies, K.E., Geschwind, D.H., Monaco, A.P. & Fisher, S.E. (2008) A functional genetic link between distinct developmental language disorders. N Engl J Med 359, 2337-2345.
89. Vernes, S.C., Oliver, P.L., Spiteri, E., Lockstone, H.E., Puliyadi, R., Taylor, J.M., Ho, J., Mombereau, C., Brewer, A., Lowy, E., Nicod, J., Groszer, M., Baban, D., Sahgal, N., Cazier, J.-B., Ragoussis, J., Davies, K.E., Geschwind, D.H. & Fisher, S.E. (2011) Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain. PLoS Genet 7, e1002145.
90. Voineagu, I., Wang, X., Johnston, P., Lowe, J.K., Tian, Y., Horvath, S., Mill, J., Cantor, R.M., Blencowe, B.J. & Geschwind, D.H. (2011) Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 474, 380-384.
91. Wechsler, D. (1974) Manual for the Wechsler Intelligence Scale for Children - Revised. The Psychological Corporation, New York, NY.
92. Wechsler, D. (1981) Manual for the Wechsler Adult Intelligence Scale - Revised. Psychological Corporation, New York, NY.
93. Wechsler, D., Golombok, S. & Rust, J. (1992) WISC-IIIUK: Wechsler Intelligence Scale for Children: UK manual, 3rd edn. The Psychological Corporation, Sidcup, UK.
94. Whitehouse, A.J., Bishop, D.V., Ang, Q.W., Pennell, C.E. & Fisher, S.E. (2011) CNTNAP2 variants affect early language development in the general population. Genes Brain Behav 10, 451-456.
95. Whitehouse, A.J., Mattes, E., Maybery, M.T., Sawyer, M.G., Jacoby, P., Keelan, J.A. & Hickey, M. (2012) Sex-specific associations between umbilical cord blood testosterone levels and language delay in early childhood. J Child Psychol Psychiatry 53, 726-734.
96. Willcutt, E.G., Pennington, B.F., Olson, R.K., Chhabildas, N. & Hulslander, J. (2005) Neuropsychological analyses of comorbidity between reading disability and attention deficit hyperactivity disorder: in search of the common deficit. Dev Neuropsychol 27, 35-78.
97. Willcutt, E.G., Betjemann, R.S., McGrath, L.M., Chhabildas, N.A., Olson, R.K., DeFries, J.C. & Pennington, B.F. (2010) Etiology and neuropsychology of comorbidity between RD and ADHD: the case for multiple-deficit models. Cortex 46, 1345-1361.
98. Willer, C.J., Li, Y. & Abecasis, G.R. (2010) METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26, 2190-2191.
99. Wright, M., De Geus, E., Ando, J., Luciano, M., Posthuma, D., Ono, Y., Hansell, N., Van Baal, C., Hiraishi, K., Hasegawa, T., Smith, G., Geffen, G., Geffen, L., Kanba, S., Miyake, A., Martin, N. & Boomsma, D. (2001) Genetics of cognition: outline of a collaborative twin study. Twin Res 4, 48-56.
100. Zhang, X.M., Sheng, S.R., Wang, X.Y., Bin, L.H., Wang, J.R. & Li, G.Y. (2004) Expression of tumor related gene NAG6 in gastric cancer and restriction fragment length polymorphism analysis. World J Gastroenterol 10, 1361-1364.