The genetics of reading disabilities: from phenotypes to candidate genes.
Open accessAbstract
This article provides an overview of (a) issues in definition and diagnosis of specific reading disabilities at the behavioral level that may occur in different constellations of developmental and phenotypic profiles (patterns); (b) rapidly expanding research on genetic heterogeneity and gene candidates for dyslexia and other reading disabilities; (c) emerging research on gene-brain relationships; and (d) current understanding of epigenetic mechanisms whereby environmental events may alter behavioral expression of genetic variations. A glossary of genetic terms (denoted by bold font) is provided for readers not familiar with the technical terms.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Both ASD and dyslexia have strong genetic components in their etiologies that involve multigene interaction.
“Emerging evidence has suggested that both ASD and dyslexia have strong genetic components in their etiologies that involve multigene interaction (Raskind et al., 2012; Bourgeron, 2015).”
From Two Autism/Dyslexia Linked Variations of DOCK4 Disrupt the Gene Function on Rac1/Rap1 Activation, Neurite Outgrowth, and Synapse Development (2020) · cites this paper as Raskind et al., 2012
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Rapid “automatized” naming (R.A.N.): Dyslexia differentiated from other learning disabilities
Denckla, M. B., & Rudel, R. G. (1976) · Neuropsychologia · doi:10.1016/0028-3932(76)90075-0 · Cited by 1,457 · see citing works
Nonword repetition and child language impairment
Dollaghan, C., & Campbell, T. F. (1998) · Journal of Speech, Language, and Hearing Research · doi:10.1044/jslhr.4105.1136 · Cited by 1,006 · cited 1× · see citing works
“Several studies showed that children with LI struggle with non-word imitation tasks, which tap into phonological processing and short-term memory, significantly more than typical peers (Dollaghan and Campbell, 1998; Weismer et al., 2000).”
BackgroundA functional genetic link between distinct developmental language disorders
Vernes, S. C., Newbury, D. F., Abrahams, B. S., Winchester, L., Nicod, J., Groszer, M., Alarcón, M., Oliver, P. L., Davies, K. E., Geschwind, D. H., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802828 · Cited by 676 · see citing works
Comorbidity of learning disorders: prevalence and familial transmission
Landerl, K., & Moll, K. (2010) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2009.02164.x · Cited by 435 · see citing works
Comorbidity of ADHD and dyslexia
Germanò, E., Gagliano, A., & Curatolo, P. (2010) · Developmental Neuropsychology · doi:10.1080/87565641.2010.494748 · Cited by 331 · cited 1× · see citing works
“Review of the research to date shows that, for the most part, these regions are distinct from those implicated in dyslexia, but there are some overlaps, notably 1p36, 2q22–35, 3p12–q13, 4q12–13, 6p21–22, 6q12–14, 13q22–33, and 15q15–21 (Germano et al., 2010).”
BackgroundFrick, P. J., & Nigg, J. T. (2012) · Annual Review of Clinical Psychology · doi:10.1146/annurev-clinpsy-032511-143150 · Cited by 290 · see citing works
Cohen, N. J., Vallance, D. D., Barwick, M., Im, N., Menna, R., Horodezky, N. B., & Isaacson, L. (2000) · Journal of Child Psychology and Psychiatry · doi:10.1111/1469-7610.00619 · Cited by 272 · see citing works
Measured gene-by-environment interaction in relation to attention-deficit/hyperactivity disorder
Nigg, J., Nikolas, M., & Burt, S. A. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2010.01.025 · Cited by 259 · see citing works
Ogdie, M. N., Macphie, I. L., Minassian, S. L., Yang, M., Fisher, S. E., Francks, C., Cantor, R. M., McCracken, J. T., McGough, J. J., Nelson, S. F., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/375139 · Cited by 220 · see citing works
Neuropsychological correlates of emotional lability in children with ADHD
Banaschewski, T., Jennen‐Steinmetz, C., Brandeis, D., Buitelaar, J. K., Kuntsi, J., Poustka, L., Sergeant, J. A., Sonuga‐Barke, E. J., Frazier‐Wood, A. C., Albrecht, B., et al. (2012) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2012.02596.x · Cited by 122 · see citing works
Flagged first, then by citations
Research works printed but not linked: 273
- Addis L. Friederici A. D. Kotz S. A. Sabisch B. Barry J. Richter N. (2010). A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3. Genes Brain Behav. 9, 545– 561 10.1111/j.1601-183X.2010.00583.x 20345892 PMC2948670 · DOI
- Andrews W. Liapi A. Plachez C. Camurri L. Zhang J. Mori S. (2006). Robo1 regulates the development of major axon tracts and interneuron migration in the forebrain. Development 133, 2243– 2252 10.1242/dev.02379 16690755 · DOI
- Ansley S. J. Badano J. L. Blacque O. E. Hill J. Hoskins B. E. Leitch C. C. (2003). Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425, 628– 633 10.1038/nature02030 14520415 · DOI
- Anthoni H. Sucheston L. E. Lewis B. A. Tapia-Paez I. Fan X. Zucchelli M. (2012). The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language. Behav. Genet. 42, 509– 527 10.1007/s10519-012-9532-3 22426781 PMC3375077 · DOI
- Anthoni H. Zucchelli M. Matsson H. Muller-Myhsok B. Fransson I. Schumacher J. (2007). A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Hum. Mol. Genet. 16, 667– 677 10.1093/hmg/ddm009 17309879 · DOI
- Anthony J. L. Lonigan C. J. Burgess S. R. Driscoll K. Phillips B. M. Cantor B. G. (2002). Structure of preschool phonological sensitivity: overlapping sensitivity to rhyme, words, syllables, and phonemes. J. Exp. Child Psychol. 82, 65– 92 10.1006/jecp.2002.2677 12081460 · DOI
- Arcos-Burgos M. Castellanos F. X. Pineda D. Lopera F. Palacio J. D. Palacio L. G. (2004). Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11. Am. J. Hum. Genet. 75, 998– 1014 10.1086/426154 15497111 PMC1182160 · DOI
- Asherson P. Zhou K. Anney R. J. Franke B. Buitelaar J. Ebstein R. (2008). A high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16. Mol. Psychiatry 13, 514– 521 10.1038/sj.mp.4002140 18180756 · DOI
- Bakker S. C. Van Der Meulen E. M. Buitelaar J. K. Sandkuijl L. A. Pauls D. L. Monsuur A. J. (2003). A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q. Am. J. Hum. Genet. 72, 1251– 1260 10.1086/375143 12679898 PMC1180276 · DOI · Paper page
- Barry J. G. Yasin I. Bishop D. V. (2007). Heritable risk factors associated with language impairments. Genes Brain Behav. 6, 66– 76 10.1111/j.1601-183X.2006.00232.x 17233642 PMC1974814 · DOI
- Bartlett C. W. Flax J. F. Logue M. W. Vieland V. J. Bassett A. S. Tallal P. (2002). A major susceptibility locus for specific language impairment is located on 13q21. Am. J. Hum. Genet. 71, 45– 55 10.1086/341095 12048648 PMC384992 · DOI
- Bates T. C. Lind P. A. Luciano M. Montgomery G. W. Martin N. G. Wright M. J. (2010). Dyslexia and DYX1C1: deficits in reading and spelling associated with a missense mutation. Mol. Psychiatry 15, 1190– 1196 10.1038/mp.2009.120 19901951 · DOI
- 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 10.1038/sj.ejhg.5201739 17119535 · DOI
- 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 10.1007/s10519-010-9402-9 20949370 · DOI
- Bellini G. Bravaccio C. Calamoneri F. Cocuzza M. D. Fiorillo P. Gagliano A. (2005). No evidence for association between dyslexia and DYX1C1 functional variants in a group of children and adolescents from Southern Italy. J. Mol. Neurosci. 27, 311– 314 10.1385/JMN:27:3:311 16280601 · DOI
- Berninger V. Abbott R. Thomson J. Wagner R. Swanson H. L. Wijsman E. (2006). Modeling developmental phonological core deficits within a working memory architecture in children and adults with developmental dyslexia. Sci. Stud. Read. 10, 165– 198 10.1207/s1532799xssr1002_3 · DOI
- Berninger V. Dunn M. (2012). “Brain and behavioral response to intervention for specific reading, writing, and math disabilities: what works for whom?” in Learning about LD, 4th Edn, eds Wong B. Butler D. (New York: Elsevier/Academic Press), 59– 89
- Berninger V. Niedo J. (2012). “Individualizing instruction for students with oral and written language difficulties,” in Essentials of Planning, Selecting and Tailoring Intervention: Addressing the Needs of Unique learner, eds Mascolo D. F. J. Alfonso V. (New York: Wiley), in press
- Berninger V. Richards T. (2010). Inter-relationships among behavioral markers, genes, brain, and treatment in dyslexia and dysgraphia. Future Neurol. 5, 597– 617 10.2217/fnl.10.22 20953351 PMC2953808 · DOI · Paper page
- Berninger V. W. Nielsen K. H. Abbott R. D. Wijsman E. Raskind W. (2008). Gender differences in severity of writing and reading disabilities. J. Sch. Psychol. 46, 151– 172 10.1016/j.jsp.2007.02.007 19083355 · DOI
- Bird J. Bishop D. V. Freeman N. H. (1995). Phonological awareness and literacy development in children with expressive phonological impairments. J. Speech Hear. Res. 38, 446– 462 7596110
- Bishop D. V. (2002). Motor immaturity and specific speech and language impairment: evidence for a common genetic basis. Am. J. Med. Genet. 114, 56– 63 10.1002/ajmg.1630 11840507 · DOI
- Bishop D. V. M. North T. Donlan C. (1995). Genetic-basis of specific language impairment – evidence from a twin study. Dev. Med. Child Neurol. 37, 56– 71 10.1111/j.1469-8749.1995.tb11932.x 7828787 · DOI
- Boon W. C. Chow J. D. Simpson E. R. (2010). The multiple roles of estrogens and the enzyme aromatase. Prog. Brain Res. 181, 209– 232 10.1016/S0079-6123(08)81012-6 20478440 · DOI
- Brkanac Z. Chapman N. Igo R. P. Matsushita M. Nielsen K. Berninger V. (2008). Linkage analysis of a nonword repetition endophenotype in families with dyslexia: initial findings and replication. Behav. Genet. 38, 462– 475 10.1007/s10519-008-9215-2 18607713 PMC2853749 · DOI
- Brkanac Z. Chapman N. Matsushita M. Chun L. Nielsen K. E. C. Berninger V. (2007). Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia. Am. J. Med. Genet. B Neuropsychiatr. Genet. 144B, 556– 560 10.1002/ajmg.b.30471 17450541 · DOI
- Brooks A. D. Berninger V. W. Abbott R. D. (2011). Letter naming and letter writing reversals in children with dyslexia: momentary inefficiency in the phonological and orthographic loops of working memory. Dev. Neuropsychol. 36, 847– 868 10.1080/87565641.2011.606401 21978009 · DOI
- Bruck M. (1990). Word recognition skills of adults with childhood diagnoses of dyslexia. Dev. Psychol. 26, 439– 454 10.1037/0012-1649.26.3.439 · DOI
- Bruck M. (1992). Persistence of dyslexics’ phonological awareness deficits. Dev. Psychol. 26, 874– 888 10.1037/0012-1649.28.5.874 · DOI
- Bruck M. (1993). Word recognition and component phonological processing skills of adults with childhood diagnosis of dyslexia. Dev. Rev. 13, 238– 268 10.1006/drev.1993.1012 · DOI
- Burbridge T. J. Wang Y. Volz A. J. Peschansky V. J. Lisann L. Galaburda A. M. (2008). Postnatal analysis of the effect of embryonic knockdown and overexpression of candidate dyslexia susceptibility gene homolog Dcdc2 in the rat. Neuroscience 152, 723– 733 10.1016/j.neuroscience.2008.01.020 18313856 PMC2424111 · DOI
- Cardon L. R. Smith S. D. Fulker D. W. Kimberling W. J. Pennington B. F. Defries J. C. (1994). Quantitative trait locus for reading disability on chromosome 6. Science 266, 276– 279 10.1126/science.7939663 7939663 · DOI
- Cardon L. R. Smith S. D. Fulker D. W. Kimberling W. J. Pennington B. F. Defries J. C. (1995). Quantitative trait locus for reading disability: correction. Science 268, 1553 10.1126/science.7777847 7777847 · DOI
- Carthew R. W. Sontheimer E. J. (2009). Origins and mechanisms of miRNAs and siRNAs. Cell 136, 642– 655 10.1016/j.cell.2009.01.035 19239886 PMC2675692 · DOI
- Catts H. W. (1986). Speech production phonological deficits in reading disordered children. J. Learn. Disabil. 19, 504– 508 10.1177/002221948601900813 3760705 · DOI
- Catts H. W. Bridges M. S. Little T. D. Tomblin J. B. (2008). Reading achievement growth in children with language impairments. J. Speech Lang. Hear. Res. 51, 1569– 1579 10.1044/1092-4388(2008/07-0259) 18695010 PMC3763805 · DOI
- Catts H. W. Fey M. E. Tomblin J. B. Zhang X. (2002a). A longitudinal investigation of reading outcomes in children with language impairments. J. Speech Lang. Hear. Res. 45, 1142– 1157 10.1044/1092-4388(2002/093) 12546484 · DOI
- Catts H. W. Gillispie M. Leonard L. B. Kail R. V. Miller C. A. (2002b). The role of speed of processing, rapid naming, and phonological awareness in reading achievement. J. Learn. Disabil. 35, 509– 524 10.1177/00222194020350060301 15493249 · DOI
- Caylak E. (2007). A review of association and linkage studies for genetical analyses of learning disorders. Am. J. Med. Genet. B Neuropsychiatr. Genet. 144B, 923– 943 10.1002/ajmg.b.30537 17510947 · DOI
- Chang B. S. Katzir T. Liu T. Corriveau K. Barzillai M. Apse K. A. (2007). A structural basis for reading fluency: white matter defects in a genetic brain malformation. Neurology 69, 2146– 2154 10.1212/01.wnl.0000286365.41070.54 18056578 · DOI
- Chang B. S. Ly J. Appignani B. Bodell A. Apse K. A. Ravenscroft R. S. (2005). Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. Neurology 64, 799– 803 10.1212/01.WNL.0000152874.57180.AF 15753412 · DOI
- Chapman N. Igo R. J. Thomson J. Matsushita M. Brkanac Z. Holzman T. (2004). Linkage analyses of four regions previously implicated in dyslexia: confirmation of a locus on chromosome 15q. Am. J. Med. Genet. B Neuropsychiatr. Genet. 131B, 67– 75 10.1002/ajmg.b.30018 15389770 · DOI
- Chapman N. H. Raskind W. H. Thomson J. B. Berninger V. W. Wijsman E. M. (2003). Segregation analysis of phenotypic components of learning disabilities. II. Phonological decoding. Am. J. Med. Genet. B Neuropsychiatr. Genet. 121B, 60– 70 10.1002/ajmg.b.20068 12898577 · DOI
- Coe B. P. Girirajan S. Eichler E. E. (2012). The genetic variability and commonality of neurodevelopmental disease. Am. J. Med. Genet. C Semin. Med. Genet. 160C, 118– 129 10.1002/ajmg.c.31327 22499536 PMC4114147 · DOI
- Consortium S. (2002). A genomewide scan identifies two novel loci involved in specific language impairment. Am. J. Hum. Genet. 70, 384– 398 10.1086/338649 11791209 PMC384915 · DOI
- Conti-Ramsden G. Falcaro M. Simkin Z. Pickles A. (2007). Familial loading in specific language impairment: patterns of differences across proband characteristics, gender and relative type. Genes Brain Behav. 6, 216– 228 10.1111/j.1601-183X.2006.00250.x 16827920 · DOI
- Cope N. Harold D. Hill G. Moskvina V. Stevenson J. Holmans P. (2005a). Strong evidence that KIA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. Am. J. Hum. Genet. 76, 581– 591 10.1086/429131 15717286 PMC1199296 · DOI
- Cope N. Hill G. Van Den Bree M. Harold D. Moskvina V. Green E. (2005b). No support for association between dyslexia susceptibility 1 candidate 1 and developmental dyslexia. Mol. Psychiatry 10, 237– 238 10.1038/sj.mp.4001596 15477871 · DOI
- Corbo J. C. Deuel T. A. Long J. M. Laporte P. Tsai E. Wynshaw-Boris A. (2002). Doublecortin is required in mice for lamination of the hippocampus but not the neocortex. J. Neurosci. 22, 7548– 7557 12196578 PMC6757990
- Couto J. M. Livne-Bar I. Huang K. Xu Z. Cate-Carter T. Feng Y. (2010). Association of reading disabilities with regions marked by acetylated H3 histones in KIAA0319. Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B, 447– 462 19588467 PMC5381965
- Currier T. A. Etchegaray M. A. Haight J. L. Galaburda A. M. Rosen G. D. (2011). The effects of embryonic knockdown of the candidate dyslexia susceptibility gene homologue Dyx1c1 on the distribution of GABAergic neurons in the cerebral cortex. Neuroscience 172, 535– 546 10.1016/j.neuroscience.2010.11.002 21070838 PMC3010415 · DOI
- Dahdouh F. Anthoni H. Tapia-Paez I. Peyrard-Janvid M. Schulte-Korne G. Warnke A. (2009). Further evidence for DYX1C1 as a susceptibility factor for dyslexia. Psychiatr. Genet. 19, 59– 63 10.1097/YPG.0b013e32832080e1 19240663 · DOI
- Darki F. Peyrard-Janvid M. Matsson H. Kere J. Klingberg T. (2012). Three dyslexia susceptibility genes, DYX1C1, DCDC2, and KIAA0319, affect temporo-parietal white matter structure. Biol. Psychiatry 72, 671– 676 10.1016/j.biopsych.2012.05.008 22683091 · DOI
- Davis O. S. Haworth C. M. Plomin R. (2009). Learning abilities and disabilities: generalist genes in early adolescence. Cogn. Neuropsychiatry 14, 312– 331 10.1080/13546800902797106 19634033 PMC2886509 · DOI
- de Kovel C. G. Franke B. Hol F. A. Lebrec J. J. Maassen B. Brunner H. (2008). Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection. Am. J. Med. Genet. B Neuropsychiatr. Genet. 147, 294– 300 17886254
- de Kovel C. G. F. Hol F. A. Heister J. Willemen J. Sandkuijl L. A. Franke B. (2004). Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family. J. Med. Genet. 41, 652– 657 10.1136/jmg.2003.012294 15342694 PMC1735895 · DOI
- Deffenbacher K. E. Kenyon J. B. Hoover D. M. Olson R. K. Pennington B. F. Defries J. C. (2004). Refinement of the 6p21.3 quantitative trait locus influencing dyslexia: linkage and association analyses. Hum. Genet. 115, 128– 138 10.1007/s00439-004-1126-6 15138886 · DOI
- DeFries J. Fulker D. Labuda M. (1987). Evidence for a genetic aetiology in reading disability of twins. Nature 329, 537– 539 10.1038/329537a0 3657975 · DOI
- DeFries J. C. Singer S. M. Foch T. T. Lewitter F. I. (1978). Familial nature of reading disability. Br. J. Psychiatry 132, 361– 367 10.1192/bjp.132.4.361 638389 · DOI
- Dennis M. Y. Paracchini S. Scerri T. S. Prokunina-Olsson L. Knight J. C. Wade-Martins R. (2009). A common variant associated with dyslexia reduces expression of the KIAA0319 gene. PLoS Genet. 5: e1000436 10.1371/journal.pgen.1000436 19325871 PMC2653637 · DOI
- Dixon-Salazar T. Silhavy J. L. Marsh S. E. Louie C. M. Scott L. C. Gururaj A. (2004). Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am. J. Hum. Genet. 75, 979– 987 10.1086/425985 15467982 PMC1182159 · DOI
- Drake W. (1968). Clinical and pathological findings in a child with a developmental learning disability. J. Learn. Disabil. 1, 486– 502 10.1177/002221946800100901 · DOI
- Dunham I. Kundaje A. Aldred S. F. Collins P. J. Davis C. A. Doyle F. (2012). An integrated encyclopedia of DNA elements in the human genome. Nature 489, 57– 74 10.1038/nature11247 22955616 PMC3439153 · DOI · Paper page
- Eckert M. A. Leonard C. M. (2000). Structural imaging in dyslexia: the planum temporale. Ment. Retard. Dev. Disabil. Res. Rev. 6, 198– 206 10.1002/1098-2779(2000)6:3<198::AID-MRDD7>3.0.CO;2-1 10982497 · DOI
- Eckert M. A. Leonard C. M. Richards T. L. Aylward E. H. Thomson J. Berninger V. W. (2003). Anatomical correlates of dyslexia: frontal and cerebellar findings. Brain 126, 482– 494 10.1093/brain/awg026 12538414 · DOI
- Eckert M. A. Leonard C. M. Wilke M. Eckert M. Richards T. Richards A. (2005). Anatomical signatures of dyslexia in children: unique information from manual and voxel based morphometry brain measures. Cortex 5, 304– 315 10.1016/S0010-9452(08)70268-5 15871596 · DOI
- Elbert A. Lovett M. W. Cate-Carter T. Pitch A. Kerr E. N. Barr C. L. (2011). Genetic variation in the KIAA0319 5′ region as a possible contributor to dyslexia. Behav. Genet. 41, 77– 89 10.1007/s10519-010-9434-1 21207242 PMC5469622 · DOI
- Fagerheim T. Raeymaekers P. Tonnessen F. E. Pedersen M. Tranebjaerg L. Lubs H. A. (1999). A new gene (DYX3) for dyslexia is located on chromosome 2. J. Med. Genet. 36, 664– 669 10507721 PMC1734428
- Falcaro M. Pickles A. Newbury D. F. Addis L. Banfield E. Fisher S. E. (2008). Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment. Genes Brain Behav. 7, 393– 402 10.1111/j.1601-183X.2007.00364.x 18005161 · DOI
- Faraone S. V. Doyle A. E. Lasky-Su J. Sklar P. B. D’Angelo E. Gonzalez-Heydrich J. (2008). Linkage analysis of attention deficit hyperactivity disorder. Am. J. Med. Genet. B Neuropsychiatr. Genet. 147B, 1387– 1391 10.1002/ajmg.b.30631 18081027 PMC4511106 · DOI
- Farmer M. E. Klein R. (1993). Auditory and visual temporal processing in dyslexic and normal readers. Ann. N. Y. Acad. Sci. 682, 339– 341 10.1111/j.1749-6632.1993.tb22987.x 8323130 · DOI
- Felsenfeld S. Plomin R. (1997). Epidemiological and offspring analyses of developmental speech disorders using data from the Colorado Adoption Project. J. Speech Lang. Hear. Res. 40, 778– 791 9263943
- Field L. L. Kaplan B. J. (1998). Absence of linkage of phonological coding dyslexia to chromosome 6p23-p21.3 in a large family data set. Am. J. Hum. Genet. 63, 1448– 1456 10.1086/302107 9792873 PMC1377556 · DOI
- Fisher S. E. Francks C. Marlow A. J. Macphie I. L. Newbury D. F. Cardon L. R. (2002a). Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia. Nat. Genet. 30, 86– 91 10.1038/ng792 11743577 · DOI
- Fisher S. E. Francks C. McCracken J. T. McGough J. J. Marlow A. J. Macphie I. L. (2002b). A genomewide scan for loci involved in attention-deficit/hyperactivity disorder. Am. J. Hum. Genet. 70, 1183– 1196 10.1086/340112 11923911 PMC447594 · DOI
- Fisher S. E. Marlow A. J. Lamb J. Maestrini E. Williams D. F. Richardson A. J. (1999). A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia. Am. J. Hum. Genet. 64, 146– 156 10.1086/302190 9915953 PMC1377712 · DOI
- Fisher S. E. Vargha-Khadem F. Watkins K. E. Monaco A. P. Pembrey M. E. (1998). Localisation of a gene implicated in a severe speech and language disorder. Nat. Genet. 18, 168– 170 10.1038/ng0298-168 9462748 · DOI
- Flannery K. A. Liederman J. Daly L. Schultz J. (2000). Male prevalence for reading disability is found in a large sample of black and white children free from ascertainment bias. J. Int. Neuropsychol. Soc. 6, 433– 442 10.1017/S1355617700644016 10902412 · DOI
- Fletcher J. M. Shaywitz S. E. Shankweiler D. P. Katz L. Liberman I. Y. Stuebing K. K. (1994). Cognitive profiles of reading-disability – comparisons of discrepancy and low achievement definitions. J. Educ. Psychol. 86, 6– 23 10.1037/0022-0663.86.1.6 · DOI
- Francks C. Paracchini S. Smith S. Richardson A. Scerri T. Cardon L. (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 10.1086/426404 15514892 PMC1182140 · DOI
- Frazier-Wood A. C. Bralten J. Arias-Vasquez A. Luman M. Ooterlaan J. Sergeant J. (2012). Neuropsychological intra-individual variability explains unique genetic variance of ADHD and shows suggestive linkage to chromosomes 12, 13, and 17. Am. J. Med. Genet. B Neuropsychiatr. Genet. 159B, 131– 140 10.1002/ajmg.b.32018 22223442 · DOI · Paper page
- Gabel L. A. Marin I. Loturco J. J. Che A. Murphy C. Manglani M. (2011). Mutation of the dyslexia-associated gene Dcdc2 impairs LTM and visuo-spatial performance in mice. Genes Brain Behav. 10, 868– 875 10.1111/j.1601-183X.2011.00727.x 21883923 PMC3212622 · DOI
- Galaburda A. M. Kemper T. L. (1978). Auditory cytoarchitectonic abnormalities in a case of familial developmental dyslexia. Trans. Am. Neurol. Assoc. 103, 262– 265 757073
- Galaburda A. M. Menard M. T. Rosen G. D. (1994). Evidence for aberrant auditory anatomy in developmental dyslexia. Proc. Natl. Acad. Sci. U.S.A. 91, 8010– 8013 10.1073/pnas.91.17.8010 8058748 PMC44534 · DOI
- Galaburda A. M. Sherman G. F. Rosen G. D. Aboitiz F. Geschwind N. (1985). Developmental dyslexia: four consecutive patients with cortical anomalies. Ann. Neurol. 18, 222– 233 10.1002/ana.410180210 4037763 · DOI
- Gayán J. Olson R. K. (2001). Genetic and environmental influences on orthographic and phonological skills in children with reading disabilities. Dev. Neuropsychol. 20, 483– 507 10.1207/S15326942DN2002_3 11892949 · DOI
- Gayán J. Olson R. K. (2003). Genetic and environmental influences on individual differences in printed word recognition. J. Exp. Child Psychol. 84, 97– 123 10.1016/S0022-0965(02)00181-9 12609495 · DOI
- Gayan J. Smith S. D. Cherny S. S. Cardon L. R. Fulker D. W. Brower A. M. (1999). Quantitative-trait locus for specific language and reading deficits on chromosome 6p. Am. J. Hum. Genet. 64, 157– 164 10.1086/302191 9915954 PMC1377713 · DOI
- Gayán J. Willcutt E. G. Fisher S. E. Francks C. Cardon L. R. Olson R. K. (2005). Bivariate linkage scan for reading disability and attention-deficit/hyperactivity disorder localizes pleiotropic loci. J. Child Psychol. Psychiatry 46, 1045– 1056 10.1111/j.1469-7610.2005.01447.x 16178928 · DOI
- Gilger J. W. Borecki I. B. Defries J. C. Pennington B. F. (1994). Commingling and segregation analysis of reading performance in families of normal reading probands. Behav. Genet. 24, 345– 355 10.1007/BF01067536 7993313 · DOI
- Gilger J. W. Pennington B. F. Defries J. C. (1992). A twin study of the etiology of comorbidity: attention-deficit hyperactivity disorder and dyslexia. J. Am. Acad. Child Adolesc. Psychiatry 31, 343– 348 10.1097/00004583-199203000-00024 1564037 · DOI
- Girirajan S. Brkanac Z. Coe B. P. Baker C. Vives L. Vu T. H. (2011). Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet. 7: e1002334 10.1371/journal.pgen.1002334 22102821 PMC3213131 · DOI
- Griffith E. Walker S. Martin C. A. Vagnarelli P. Stiff T. Vernay B. (2008). Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat. Genet. 40, 232– 236 10.1038/ng.2007.80 18157127 PMC2397541 · DOI
- Grigorenko E. L. Naples A. Chang J. Romano C. Ngorosho D. Kungulilo S. (2007). Back to Africa: tracing dyslexia genes in east Africa. Read. Writ. 20, 27– 49 10.1007/s11145-006-9017-y · DOI
- Grigorenko E. L. Wood F. B. Meyer M. S. Hart L. A. Speed W. C. Shuster A. (1997). Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. Am. J. Hum. Genet. 60, 27– 29 8981944 PMC1712535
- Hallgren B. (1950). Specific dyslexia (congenital word-blindness): a clinical and genetic study. Acta Psychiatr. Neurol. 65, 1– 287 14846691
- Hannula-Jouppi K. Kaminen-Ahola N. Taipale M. Eklund R. Nopola-Hemmi J. Kaariainen H. (2005). The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS Genet. 1: e50 10.1371/journal.pgen.0010050 16254601 PMC1270007 · DOI
- Harlaar N. Spinath F. M. Dale P. S. Plomin R. (2005). Genetic influences on early word recognition abilities and disabilities: a study of 7-year-old twins. J. Child Psychol. Psychiatry 46, 373– 384 10.1111/j.1469-7610.2005.01515.x 15819646 · DOI
- Harold D. Paracchini S. Scerri T. Dennis N. Cope H. Hill G. (2006). Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. Mol. Psychiatry 11, 1085– 1091 10.1038/sj.mp.4001904 17033633 · DOI
- Hayiou-Thomas M. E. (2008). Genetic and environmental influences on early speech, language and literacy development. J. Commun. Disord. 41, 397– 408 10.1016/j.jcomdis.2008.03.002 18538338 PMC3851292 · DOI
- Hsiung G. Y. Kaplan B. J. Petryshen T. L. Lu S. Field L. L. (2004). A dyslexia susceptibility locus (DYX7) linked to dopamine D4 receptor (DRD4) region on chromosome 11p15.5. Am. J. Med. Genet. 125B, 112– 119 10.1002/ajmg.b.20082 14755455 · DOI
- Hsu L. Wijsman E. M. Berninger V. W. Thomson J. B. Raskind W. H. (2002). Familial aggregation of dyslexia phenotypes. II. Paired correlated measures. Am. J. Med. Genet. 114, 471– 478 10.1002/ajmg.10523 11992573 · DOI
- Igo R. P. Chapman N. H. Berninger V. Matsushita M. Brkanac Z. Rothstein J. (2006). Genome wide scan for real-word reading subphenotypes of dyslexia: novel chromosome 13 locus and genetic complexity. Am. J. Med. Genet. B Neuropsychiatr. Genet. 141, 15– 27 16331673 PMC2556979
- Johnson E. P. Pennington B. F. Lowenstein J. H. Nittrouer S. (2011). Sensitivity to structure in the speech signal by children with speech sound disorder and reading disability. J. Commun. Disord. 44, 294– 314 10.1016/j.jcomdis.2011.01.001 21329941 PMC3095671 · DOI
- Jurczyk A. Gromley A. Redick S. San Agustin J. Witman G. Pazour G. J. (2004). Pericentrin forms a complex with intraflagellar transport proteins and polycystin-2 and is required for primary cilia assembly. J. Cell Biol. 166, 637– 643 10.1083/jcb.200405023 15337773 PMC2172416 · DOI
- Kaminen N. Hannula-Jouppi K. Kestila M. Lahermo P. Muller K. Kaaranen M. (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 10.1136/jmg.40.5.340 12746395 PMC1735449 · DOI
- Kandel E. R. Schwartz J. H. Jessell T. M. (2012). Principles of Neural Science, 5th Edn New York: McGraw-Hill
- Kaneko K. Fujiki N. Hari R. (2003). Binaural interaction in the human auditory cortex revealed by neuromagnetic frequency tagging: no effect of stimulus intensity. Hear. Res. 183, 1– 6 10.1016/S0378-5955(03)00186-2 13679132 · DOI
- Kaplan D. E. Gayan J. Ahn J. Won T. W. Pauls D. Olson R. K. (2002). Evidence for linkage and association with reading disability on 6p21.3-22. Am. J. Hum. Genet. 70, 1287– 1298 10.1086/340449 11951179 PMC447603 · DOI
- Katusic S. K. Colligan R. C. Barbaresi W. J. Schaid D. J. Jacobsen S. J. (2001). Incidence of reading disability in a population-based birth cohort, 1976–1982, Rochester, Minn. Mayo Clin. Proc. 76, 1081– 1092 10.4065/76.11.1081 11702896 · DOI · Paper page
- Kerjan G. Koizumi H. Han E. B. Dube C. M. Djakovic S. N. Patrick G. N. (2009). Mice lacking doublecortin and doublecortin-like kinase 2 display altered hippocampal neuronal maturation and spontaneous seizures. Proc. Natl. Acad. Sci. U.S.A. 106, 6766– 6771 10.1073/pnas.0812687106 19342486 PMC2672532 · DOI
- Ketting R. F. (2011). The many faces of RNAi. Dev. Cell 20, 148– 161 10.1016/j.devcel.2011.01.012 21316584 · DOI
- Kidd T. Brose K. J. Mitchell K. J. Fetter R. D. Tessier-Lavigne M. Goodman C. S. (1998). Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors. Cell 92, 205– 215 10.1016/S0092-8674(00)80915-0 9458045 · DOI
- König I. R. Schumacher J. Hoffmann P. Kleensang A. Ludwig K. U. Grimm T. (2011). Mapping for dyslexia and related cognitive trait loci provides strong evidence for further risk genes on chromosome 6p21. Am. J. Med. Genet. B Neuropsychiatr. Genet. 156B, 36– 43 21184582
- Kronenberger W. G. Dunn D. W. (2003). Learning disorders. Neurol. Clin. 21, 941– 952 10.1016/S0733-8619(03)00010-0 14743658 · DOI
- Laffin J. J. Raca G. Jackson C. A. Strand E. A. Jakielski K. J. Shriberg L. D. (2012). Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. Genet. Med. 14, 928– 936 10.1038/gim.2012.72 22766611 PMC3563158 · DOI
- Lai C. S. L. Fisher S. E. Hurst J. A. Vargha-Khadem F. Monaco A. P. (2001). A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413, 519– 523 10.1038/35097076 11586359 · DOI
- Lamminmäki S. Massinen S. Nopola-Hemmi J. Kere J. Hari R. (2012). Human ROBO1 regulates interaural interaction in auditory pathways. J. Neurosci. 32, 966– 971 10.1523/JNEUROSCI.4007-11.2012 22262894 PMC6621165 · DOI
- Leonard C. M. Eckert M. A. (2008). Asymmetry and dyslexia. Dev. Neuropsychol. 33, 663– 681 10.1080/87565640802418597 19005910 PMC2586924 · DOI
- Leonard L. B. Ellis Weismer S. Miller C. A. Francis D. J. Tomblin J. B. Kail R. V. (2007). Speed of processing, working memory, and language impairment in children. J. Speech Lang. Hear. Res. 50, 408– 428 10.1044/1092-4388(2007/053) 17463238 · DOI
- Levecque C. Velayos-Baeza A. Holloway Z. G. Monaco A. P. (2009). The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway. Am. J. Physiol. Cell Physiol. 297, C160– C168 10.1152/ajpcell.00630.2008 19419997 PMC2711651 · DOI
- Lewis B. A. Freebairn L. A. Hansen A. J. Iyengar S. K. Taylor H. G. (2004). School-age follow-up of children with childhood apraxia of speech. Lang. Speech Hear. Serv. Sch. 35, 122– 140 10.1044/0161-1461(2004/014) 15191325 · DOI
- Lewis B. A. Thompson L. A. (1992). A study of developmental speech and language disorders in twins. J. Speech Hear. Res. 35, 1086– 1094 1447920
- Liberman A. (1999). The reading researcher and the reading teacher need the right theory of speech. Sci. Stud. Read. 3, 95– 111 10.1207/s1532799xssr0302_1 · DOI
- Lim C. K. Ho C. S. Chou C. H. Waye M. M. (2011). Association of the rs3743205 variant of DYX1C1 with dyslexia in Chinese children. Behav. Brain Funct. 7, 16 10.1186/1744-9081-7-16 21599957 PMC3123182 · DOI
- Lind P. A. Luciano M. Wright M. J. Montgomery G. W. Martin N. G. Bates T. C. (2010). Dyslexia and DCDC2: normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample. Eur. J. Hum. Genet. 18, 668– 673 10.1038/ejhg.2009.237 20068590 PMC2987340 · DOI
- Linkersdörfer J. Lonnemann J. Lindberg S. Hasselhorn M. Fiebach C. J. (2012). Grey matter alterations co-localize with functional abnormalities in developmental dyslexia: an ALE meta-analysis. PLoS ONE 7: e43122 10.1371/journal.pone.0043122 22916214 PMC3423424 · DOI
- Liu J. S. (2011). Molecular genetics of neuronal migration disorders. Curr. Neurol. Neurosci. Rep. 11, 171– 178 10.1007/s11910-010-0176-5 21222180 · DOI
- Livingstone M. S. Rosen G. D. Drislane F. W. Galaburda A. M. (1991). Physiological and anatomical evidence for a magnocellular defect in developmental dyslexia. Proc. Natl. Acad. Sci. U.S.A. 88, 7943– 7947 10.1073/pnas.88.18.7943 1896444 PMC52421 · DOI
- Loo S. K. Fisher S. E. Francks C. Ogdie M. N. Macphie I. L. Yang M. (2004). Genome-wide scan of reading ability in affected sibling pairs with attention-deficit/hyperactivity disorder: unique and shared genetic effects. Mol. Psychiatry 9, 485– 493 10.1038/sj.mp.4001450 14625563 · DOI
- Lubs H. A. Duara R. Levin B. Jallad B. Lubs M. L. Rabin M. (1991). “Dyslexia subtypes – genetics, behavior, and brain imaging,” in The Reading Brain: The Biological Basis of Dyslexia, eds Duane D. D. Gray D. B. (Parkton, MD: York Press), 89– 117
- Luca P. Laurin N. Misener V. L. Wigg K. G. Anderson B. Cate-Carter T. (2007). Association of the dopamine receptor D1 gene, DRD1, with inattention symptoms in families selected for reading problems. Mol. Psychiatry 12, 776– 785 10.1038/sj.mp.4001972 17310237 · DOI
- Ludwig K. U. Roeske D. Herms S. Schumacher J. Warnke A. Plume E. (2010). Variation in GRIN2B contributes to weak performance in verbal short-term memory in children with dyslexia. Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B, 503– 511 19591125
- Ludwig K. U. Schumacher J. Schulte-Korne G. Konig I. R. Warnke A. Plume E. (2008). Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample. Psychiatr. Genet. 18, 310– 312 10.1097/YPG.0b013e3283063a78 19018237 PMC9748830 · DOI
- Lyon G. R. Shaywitz S. E. Shaywitz B. (2003). A definition of dyslexia. Ann. Dyslexia 53, 1– 14 10.1007/s11881-003-0001-9 · DOI · Paper page
- MacDermot K. D. Bonora E. Sykes N. Coupe A. M. Lai C. S. L. Vernes S. C. (2005). Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am. J. Hum. Genet. 76, 1074– 1080 10.1086/430841 15877281 PMC1196445 · DOI
- Marino C. Citterio A. Giorda R. Facoetti A. Menozzi G. Vanzin L. (2007). Association of short-term memory with a variant within DYX1C1 in developmental dyslexia. Genes Brain Behav. 6, 640– 646 10.1111/j.1601-183X.2006.00291.x 17309662 · DOI
- Marino C. Giorda R. Lorusso M. Vanzin L. Salandi N. Nobile M. (2005). A family-based association study does not support DYX1C1 on chromosome 15q21.3 as a candidate gene in developmental dyslexia. Eur. J. Hum. Genet. 13, 491– 499 10.1038/sj.ejhg.5201356 15702132 · DOI
- Marino C. Giorda R. Vanzin L. Molteni M. Lorusso M. L. Nobile M. (2003). No evidence for association and linkage disequilibrium between dyslexia and markers of four dopamine-related genes. Eur. Child Adolesc. Psychiatry 12, 198– 202 10.1007/s00787-003-0332-4 14505070 · DOI
- Marino C. Giorda R. Vanzin L. Nobile M. Lorusso M. Baschirotto C. (2004). A locus on 15q15-15qter influences dyslexia: further support from a transmission/disequilibrium study in an Italian speaking population. J. Med. Genet. 41, 42– 46 10.1136/jmg.2003.010603 14729831 PMC1757239 · DOI
- Marino C. Meng H. Mascheretti S. Rusconi M. Cope N. Giorda R. (2012). DCDC2 genetic variants and susceptibility to developmental dyslexia. Psychiatr. Genet. 22, 25– 30 10.1097/YPG.0b013e32834acdb2 21881542 PMC3232293 · DOI
- Marlow A. J. Fisher S. E. Francks C. Macphie I. L. Cherny S. S. Richardson A. J. (2003). Use of multivariate linkage analysis for dissection of a complex cognitive trait. Am. J. Hum. Genet. 72, 561– 570 10.1086/368201 12587094 PMC1180232 · DOI
- Martinez Perez T. Majerus S. Mahot A. Poncelet M. (2012). Evidence for a specific impairment of serial order short-term memory in dyslexic children. Dyslexia 18, 94– 109 10.1002/dys.1438 22389071 · DOI
- Massinen S. Hokkanen M. E. Matsson H. Tammimies K. Tapia-Paez I. Dahlstrom-Heuser V. (2011). Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons. PLoS ONE 6: e20580 10.1371/journal.pone.0020580 21698230 PMC3116825 · DOI
- Massinen S. Tammimies K. Tapia-Paez I. Matsson H. Hokkanen M. E. Soderberg O. (2009). Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia. Hum. Mol. Genet. 18, 2802– 2812 10.1093/hmg/ddp215 19423554 · DOI
- McCann M. V. Pongonis S. J. Golomb M. R. Edwards-Brown M. Christensen C. K. Sokol D. K. (2008). Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder. J. Child Neurol. 23, 950– 953 10.1177/0883073808315415 18660478 · DOI
- McGrath L. M. Pennington B. F. Shanahan M. A. Santerre-Lemmon L. E. Barnard H. D. Willcutt E. G. (2011). A multiple deficit model of reading disability and attention-deficit/hyperactivity disorder: searching for shared cognitive deficits. J. Child Psychol. Psychiatry 52, 547– 557 10.1111/j.1469-7610.2010.02346.x 21126246 PMC3079018 · DOI · Paper page
- Meaburn E. Dale P. S. Craig I. W. Plomin R. (2002). Language-impaired children: No sign of the FOXP2 mutation. Neuroreport 13, 1075– 1077 10.1097/00001756-200206120-00020 12060812 · DOI
- 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 10.1038/sj.mp.4002063 17684495 · DOI
- Meng H. Hager K. Held M. Page G. P. Olson R. K. Pennington B. F. (2005a). TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohort. Hum. Genet. 118, 87– 90 10.1007/s00439-005-0017-9 16133186 · DOI
- Meng H. Smith S. D. Hager K. Held M. Liu J. Olson R. K. (2005b). DCDC2 is associated with reading disability and modulates neuronal development in the brain. Proc. Natl. Acad. Sci. U.S.A. 102, 17053– 17058 10.1073/pnas.0502098102 16278297 PMC1278934 · DOI
- Meng H. Powers N. R. Tang L. Cope N. A. Zhang P. X. Fuleihan R. (2011). A dyslexia-associated variant in DCDC2 changes gene expression. Behav. Genet. 41, 58– 66 10.1007/s10519-010-9408-3 21042874 PMC3053575 · DOI
- Merida I. Avila-Flores A. Merino E. (2008). Diacylglycerol kinases: at the hub of cell signalling. Biochem. J. 409, 1– 18 10.1042/BJ20071674 18062770 · DOI
- Miller C. A. Kail R. Leonard L. B. Tomblin J. B. (2001). Speed of processing in children with specific language impairment. J. Speech Lang. Hear. Res. 44, 416– 433 10.1044/1092-4388(2001/034) 11324662 · DOI
- Miscimarra L. Stein C. Millard C. Kluge A. Cartier K. Freebairn L. (2007). Further evidence of pleiotropy influencing speech and language: analysis of the DYX8 region. Hum. Hered. 63, 47– 58 10.1159/000098727 17230025 · DOI
- Morais J. Bertelson P. Cary L. Alegria J. (1986). Literacy training and speech segmentation. Cognition 24, 45– 64 10.1016/0010-0277(86)90004-1 3791921 · DOI
- Morris D. W. Robinson L. Turic D. Duke M. Webb V. Milham C. (2000). Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q. Hum. Mol. Genet. 9, 843– 848 10.1093/hmg/9.5.843 10749993 · DOI
- Morrow E. M. (2010). Genomic copy number variation in disorders of cognitive development. J. Am. Acad. Child Adolesc. Psychiatry 49, 1091– 1104 10.1016/j.jaac.2010.08.009 20970697 PMC3137887 · DOI
- Nathan L. Stackhouse J. Goulandris N. Snowling M. J. (2004). Educational consequences of developmental speech disorder: Key Stage 1 National Curriculum assessment results in English and mathematics. Br. J. Educ. Psychol. 74, 173– 186 10.1348/000709904773839824 15130186 · DOI
- Newbury D. F. Bonora E. Lamb J. A. Fisher S. E. Lai C. S. L. Baird G. (2002). FOXP2 is not a major susceptibility gene for autism or specific language impairment. Am. J. Hum. Genet. 70, 1318– 1327 10.1086/339931 11894222 PMC447606 · DOI
- Newbury D. F. Fisher S. E. Monaco A. P. (2010). Recent advances in the genetics of language impairment. Genome Med. 2, 6 10.1186/gm127 20193051 PMC2829931 · DOI
- Newbury D. F. Monaco A. P. (2010). Genetic advances in the study of speech and language disorders. Neuron 68, 309– 320 10.1016/j.neuron.2010.10.001 20955937 PMC2977079 · DOI
- Newbury D. F. Paracchini S. Scerri T. S. Winchester L. Addis L. Richardson A. J. (2011). Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects. Behav. Genet. 41, 90– 104 10.1007/s10519-010-9424-3 21165691 PMC3029677 · DOI
- Newbury D. F. Winchester L. Addis L. Paracchini S. Buckingham L. L. Clark A. (2009). CMIP and ATP2C2 modulate phonological short-term memory in language impairment. Am. J. Hum. Genet. 85, 264– 272 10.1016/j.ajhg.2009.07.004 19646677 PMC2725236 · DOI
- Ng P. C. Levy S. Huang J. Stockwell T. B. Walenz B. P. Li K. (2008). Genetic variation in an individual human exome. PLoS Genet. 4: e1000160 10.1371/journal.pgen.1000160 18704161 PMC2493042 · DOI
- Nopola-Hemmi J. Myllyluoma B. Haltia T. Taipale M. Ollikainen V. Ahonen T. (2001). A dominant gene for developmental dyslexia on chromosome 3. J. Med. Genet. 38, 658– 664 10.1136/jmg.38.10.658 11584043 PMC1734736 · DOI
- Nopola-Hemmi J. Myllyluoma B. Voutilainen A. Leinonen S. Kere J. Ahonen T. (2002). Familial dyslexia: neurocognitive and genetic correlation in a large Finnish family. Dev. Med. Child Neurol. 44, 580– 586 10.1111/j.1469-8749.2002.tb00842.x 12227612 · DOI
- Nopola-Hemmi J. Taipale M. Haltia T. Lehesjoki A. E. Voutilainen A. Kere J. (2000). Two translocations of chromosome 15q associated with dyslexia. J. Med. Genet. 37, 771– 775 10.1136/jmg.37.10.771 11015455 PMC1757170 · DOI
- Nöthen M. M. Schulte-Korne G. Grimm T. Cichon S. Vogt I. R. Muller-Myhsok B. (1999). Genetic linkage analysis with dyslexia: evidence for linkage of spelling disability to chromosome 15. Eur. Child Adolesc. Psychiatry 8(Suppl. 3), 56– 59 10.1007/s007870050084 10638372 · DOI
- O’Brien E. K. Zhang X. Nishimura C. Tomblin J. B. Murray J. C. (2003). Association of specific language impairment (SLI) to the region of 7q31. Am. J. Hum. Genet. 72, 1536– 1543 10.1086/375403 12721956 PMC1180313 · DOI
- Pagnamenta A. T. Bacchelli E. De Jonge M. V. Mirza G. Scerri T. S. Minopoli F. (2010). Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biol. Psychiatry 68, 320– 328 10.1016/j.biopsych.2010.02.002 20346443 PMC2941017 · DOI · Paper page
- 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 10.1111/j.1601-183X.2010.00651.x 20846247 PMC3084500 · DOI
- Paracchini S. Steer C. D. Buckingham L. L. Morris A. P. Ring S. Scerri T. (2008). Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population. Am. J. Psychiatry 165, 1576– 1584 10.1176/appi.ajp.2008.07121872 18829873 · DOI
- Paracchini S. Thomas A. C. Castro S. Lai C. Paramasivam M. Wang Y. (2006). The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration. Hum. Mol. Genet. 15, 1659– 1666 10.1093/hmg/ddl089 16600991 · DOI
- Pennington B. F. Bishop D. V. (2009). Relations among speech, language, and reading disorders. Annu. Rev. Psychol. 60, 283– 306 10.1146/annurev.psych.60.110707.163548 18652545 · DOI
- Pennington B. F. Gilger J. W. Pauls D. Smith S. A. Smith S. D. Defries J. C. (1991). Evidence for major gene transmission of developmental dyslexia. J. Am. Med. Assoc. 18, 1527– 1534 10.1001/jama.1991.03470110073036 1880884 · DOI
- Pennington B. F. Van Orden G. C. Smith S. D. Green P. A. Haith M. M. (1990). Phonological processing skills and deficits in adult dyslexics. Child Dev. 61, 1753– 1778 10.2307/1130836 2083497 · DOI
- Perrachione T. K. Del Tufo S. N. Gabrieli J. D. (2011). Human voice recognition depends on language ability. Science 333, 595 10.1126/science.1207327 21798942 PMC4242590 · DOI
- Peschansky V. J. Burbridge T. J. Volz A. J. Fiondella C. Wissner-Gross Z. Galaburda A. M. (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 10.1093/cercor/bhp154 19679544 PMC2837091 · DOI
- Peter B. Button L. A. Stoel-Gammon C. Chapman K. Raskind W. H. (2012). Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech. Clin. Linguist. Phon. (in press). PMC3875160 23339324
- Peter B. Matsushita M. Raskind W. H. (2011a). Global processing speed in children with low reading ability and in children and adults with typical reading ability: exploratory factor analytic models. J. Speech Lang. Hear. Res. 54, 885– 899 10.1044/1092-4388(2010/10-0135) 21081672 PMC3874392 · DOI
- Peter B. Raskind W. H. Matsushita M. Lisowski M. Vu T. Berninger V. W. (2011b). Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample. J. Neurodev. Disord. 3, 39– 49 10.1007/s11689-010-9065-0 21484596 PMC3163991 · DOI · Paper page
- Peterson R. L. McGrath L. M. Smith S. D. Pennington B. F. (2007). Neuropsychology and genetics of speech, language, and literacy disorders. Pediatr. Clin. North Am. 54, 543– 561, vii. 10.1016/j.pcl.2007.02.009 17543909 · DOI
- Peterson R. L. Pennington B. F. Shriberg L. D. Boada R. (2009). What influences literacy outcome in children with speech sound disorder? J. Speech Lang. Hear. Res. 52, 1175– 1188 10.1044/1092-4388(2009/08-0024) 19403946 PMC3608470 · DOI
- Petryshen T. L. Kaplan B. J. Fu Liu M. De French N. S. Tobias R. Hughes M. L. (2001). Evidence for a susceptibility locus on chromosome 6q influencing phonological coding dyslexia. Am. J. Med. Genet. 105, 507– 517 10.1002/ajmg.1475 11496366 · DOI
- Petryshen T. L. Kaplan B. J. Hughes M. L. Tzenova J. Field L. L. (2002). Supportive evidence for the DYX3 dyslexia susceptibility gene in Canadian families. J. Med. Genet. 39, 125– 126 10.1136/jmg.39.2.125 11836362 PMC1735047 · DOI
- Petryshen T. L. Kaplan B. J. Liu M. F. Field L. L. (2000). Absence of significant linkage between phonological coding dyslexia and chromosome 6p23-21.3, as determined by use of quantitative-trait methods: confirmation of qualitative analyses. Am. J. Med. Genet. 66, 708– 714 PMC1288123 10677330
- Pinel P. Fauchereau F. Moreno A. Barbot A. Lathrop M. Zelenika D. (2012). Genetic variants of FOXP2 and KIAA0319/TTRAP/THEM2 locus are associated with altered brain activation in distinct language-related regions. J. Neurosci. 32, 817– 825 10.1523/JNEUROSCI.5996-10.2012 22262880 PMC6621137 · DOI
- Poelmans G. Buitelaar J. K. Pauls D. L. Franke B. (2011). A theoretical molecular network for dyslexia: integrating available genetic findings. Mol. Psychiatry 16, 365– 382 10.1038/mp.2010.105 20956978 · DOI · Paper page
- Poelmans G. Engelen J. J. Van Lent-Albrechts J. Smeets H. J. Schoenmakers E. Franke B. (2009). Identification of novel dyslexia candidate genes through the analysis of a chromosomal deletion. Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B, 140– 147 10.1002/ajmg.b.30787 18521840 · DOI
- Poon M. W. Tsang W. H. Chan S. O. Li H. M. Ng H. K. Waye M. M. (2011). Dyslexia-associated kiaa0319-like protein interacts with axon guidance receptor nogo receptor 1. Cell. Mol. Neurobiol. 31, 27– 35 10.1007/s10571-010-9549-1 20697954 PMC11498553 · DOI
- Pramparo T. Youn Y. H. Yingling J. Hirotsune S. Wynshaw-Boris A. (2010). Novel embryonic neuronal migration and proliferation defects in Dcx mutant mice are exacerbated by Lis1 reduction. J. Neurosci. 30, 3002– 3012 10.1523/JNEUROSCI.4851-09.2010 20181597 PMC2861429 · DOI
- Rabin M. Wen X. L. Hepburn M. Lubs H. A. Feldman E. Duara R. (1993). Suggestive linkage of developmental dyslexia to chromosome 1p34-p36. Lancet 342, 178 10.1016/0140-6736(93)91385-Y 8101276 · DOI
- Raschle N. M. Zuk J. Gaab N. (2012). Functional characteristics of developmental dyslexia in left-hemispheric posterior brain regions predate reading onset. Proc. Natl. Acad. Sci. U.S.A. 109, 2156– 2161 10.1073/pnas.1107721109 22308323 PMC3277560 · DOI
- Raskind W. Hsu L. Berninger V. Thomson J. Wijsman E. (2000). Familial aggregation of dyslexia phenotypes. Behav. Genet. 30, 385– 395 10.1023/A:1002700605187 11235984 · DOI
- Raskind W. H. Igo R. P. Chapman N. H. Berninger V. W. Thomson J. B. Matsushita M. (2005). A genome scan in multigenerational families with dyslexia: identification of a novel locus on chromosome 2q that contributes to phonological decoding efficiency. Mol. Psychiatry 10, 699– 711 10.1038/sj.mp.4001657 15753956 · DOI · Paper page
- Reinstein E. Frentz S. Morgan T. Garcia-Minaur S. Leventer R. J. McGillivray G. (2012). Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. Eur. J. Hum. Genet. [Epub ahead of print]. 10.1038/ejhg.2012.191 PMC3641385 23032111 · DOI
- Reynolds C. A. Hewitt J. K. Erickson M. T. Silberg J. L. Rutter M. Simonoff E. (1996). The genetics of children’s oral reading performance. J. Child Psychol. Psychiatry 37, 425– 434 10.1111/j.1469-7610.1996.tb01423.x 8735442 · DOI
- Rice M. L. Smith S. D. Gayan J. (2009). Convergent genetic linkage and associations to language, speech and reading measures in families of probands with specific language impairment. J. Neurodev. Disord. 1, 264– 282 10.1007/s11689-009-9031-x 19997522 PMC2788915 · DOI · Paper page
- Rice M. L. Wexler K. (1996). Toward tense as a clinical marker of specific language impairment in English-speaking children. J. Speech Hear. Res. 39, 1239– 1257 8959609
200 of 273 shown
Cited by
Sorted by citations
Bishop, D. V. M., Snowling, M. J., Thompson, P. A., Greenhalgh, T., & and the CATALISE‐2 consortium (2017) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12721 · Cited by 1,641 · see citing works
Differential Diagnosis of Dysgraphia, Dyslexia, and OWL LD: Behavioral and Neuroimaging Evidence
Berninger, V. W., Richards, T. L., & Abbott, R. D. (2015) · Reading and Writing · doi:10.1007/s11145-015-9565-0 · Cited by 176 · see citing works
“…based on impairments in levels of language and working memory components supporting language learning, but also some variation within diagnostic groups, consistent with individual differences and genetic heterogeneity in SLDs (e.g., Raskind et al., 2012), and also some commonality across groups.”
Self-citationBerninger, V. W., Nagy, W., Tanimoto, S., Thompson, R., & Abbott, R. D. (2015) · Computers & Education · doi:10.1016/j.compedu.2014.10.005 · Cited by 110 · see citing works
Self-citationHuang, M., Liang, C., Li, S., Zhang, J., Guo, D., Zhao, B., Liu, Y., Peng, Y., Xu, J., Liu, W., et al. (2020) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00577 · Cited by 41 · see citing works
- Authors
- Raskind, W. H., Peter, B., Richards, T., Eckert, M. M., & Berninger, V. W.
- Affiliations
- University of Washington (US)
- Corresponding author
- Raskind, Wendy H.
- Venue
- Frontiers in Psychology
- Publisher
- Frontiers Media SA
- Published
- 2013
- Volume
- 3
- Pages
- 601-601
- ISSN
- 1664-1078 (ISSN-L)
- PMC
- PMC3538356
- OpenAlex
- W2084534974
- Cited by
- 71
- References
- 10
- Citations by year
- 2026: 1 · 2025: 6 · 2024: 5 · 2023: 5 · 2022: 11 · 2021: 4 · 2020: 4 · 2019: 6 · 2018: 5 · 2017: 5 · 2016: 5 · 2015: 3 · 2014: 8 · 2013: 3
- FWCI
- 13.09
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Frontiers in Psychology (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- National Institute on Deafness and Other Communication Disorders (R03DC010886)
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD071764, R01HD054562, R01HD069374)
- Topics
- Social Sciences › Psychology › Developmental and Educational Psychology › Reading and Literacy Development
- Social Sciences › Psychology › Neuropsychology and Physiological Psychology › Developmental and Educational Neuropsychology
- Social Sciences › Psychology › Developmental and Educational Psychology › Language Development and Disorders
- Keywords
- reading disorders, dyslexia, candidate genes, genetic heterogeneity, epigenetics, phenotypic profiles, environmental influences on gene expression
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review