{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T03:25:43Z","timestamp":1792725943608,"version":"4.5.0"},"reference-count":43,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2013,7,1]],"date-time":"2013-07-01T00:00:00Z","timestamp":1372636800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,1,11]],"date-time":"2014-01-11T00:00:00Z","timestamp":1389398400000},"content-version":"vor","delay-in-days":194,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2013,7]]},"DOI":"10.1016\/j.ajhg.2013.05.008","type":"journal-article","created":{"date-parts":[[2013,6,6]],"date-time":"2013-06-06T11:50:40Z","timestamp":1370519440000},"page":"19-28","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":59,"title":["Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment"],"prefix":"10.1016","volume":"93","author":[{"given":"Natalie\u00a0R.","family":"Powers","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John\u00a0D.","family":"Eicher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Falk","family":"Butter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Kong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura\u00a0L.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan\u00a0M.","family":"Ring","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Mann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey\u00a0R.","family":"Gruen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2013.05.008_bib1","doi-asserted-by":"crossref","first-page":"e818","DOI":"10.1542\/peds.2010-3670","article-title":"Learning disabilities, dyslexia, and vision","volume":"127","author":"Handler","year":"2011","journal-title":"Pediatrics"},{"key":"10.1016\/j.ajhg.2013.05.008_bib2","doi-asserted-by":"crossref","first-page":"1997","DOI":"10.1016\/S0140-6736(12)60198-6","article-title":"Developmental dyslexia","volume":"379","author":"Peterson","year":"2012","journal-title":"Lancet"},{"key":"10.1016\/j.ajhg.2013.05.008_bib3","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1146\/annurev.psych.60.110707.163548","article-title":"Relations among speech, language, and reading disorders","volume":"60","author":"Pennington","year":"2009","journal-title":"Annu. Rev. Psychol."},{"key":"10.1016\/j.ajhg.2013.05.008_bib4","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/s00787-009-0081-0","article-title":"Genetics of developmental dyslexia","volume":"19","author":"Scerri","year":"2010","journal-title":"Eur. Child Adolesc. Psychiatry"},{"key":"10.1016\/j.ajhg.2013.05.008_bib5","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/s00439-005-0017-9","article-title":"TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohort","volume":"118","author":"Meng","year":"2005","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.05.008_bib6","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1093\/cercor\/bhp154","article-title":"The effect of variation in expression of the candidate dyslexia susceptibility gene homolog Kiaa0319 on neuronal migration and dendritic morphology in the rat","volume":"20","author":"Peschansky","year":"2010","journal-title":"Cereb. Cortex"},{"key":"10.1016\/j.ajhg.2013.05.008_bib7","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1038\/mp.2010.105","article-title":"A theoretical molecular network for dyslexia: integrating available genetic findings","volume":"16","author":"Poelmans","year":"2011","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.ajhg.2013.05.008_bib8","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s11910-010-0176-5","article-title":"Molecular genetics of neuronal migration disorders","volume":"11","author":"Liu","year":"2011","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"10.1016\/j.ajhg.2013.05.008_bib9","doi-asserted-by":"crossref","first-page":"40148","DOI":"10.1074\/jbc.M110.145961","article-title":"The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with gamma-secretase-independent intramembrane cleavage","volume":"285","author":"Velayos-Baeza","year":"2010","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.05.008_bib10","doi-asserted-by":"crossref","first-page":"17053","DOI":"10.1073\/pnas.0508591102","article-title":"DCDC2 is associated with reading disability and modulates neuronal development in the brain","volume":"102","author":"Meng","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2013.05.008_bib11","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1097\/YPG.0b013e3283063a78","article-title":"Investigation of the DCDC2 intron 2 deletion\/compound short tandem repeat polymorphism in a large German dyslexia sample","volume":"18","author":"Ludwig","year":"2008","journal-title":"Psychiatr. Genet."},{"key":"10.1016\/j.ajhg.2013.05.008_bib12","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1097\/YPG.0b013e32834acdb2","article-title":"DCDC2 genetic variants and susceptibility to developmental dyslexia","volume":"22","author":"Marino","year":"2012","journal-title":"Psychiatr. Genet."},{"key":"10.1016\/j.ajhg.2013.05.008_bib13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s11881-008-0020-7","article-title":"The role of gene DCDC2 in German dyslexics","volume":"59","author":"Wilcke","year":"2009","journal-title":"Ann. Dyslexia"},{"key":"10.1016\/j.ajhg.2013.05.008_bib14","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1007\/s10519-010-9408-3","article-title":"A dyslexia-associated variant in DCDC2 changes gene expression","volume":"41","author":"Meng","year":"2011","journal-title":"Behav. Genet."},{"key":"10.1016\/j.ajhg.2013.05.008_bib15","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.neuroimage.2012.06.037","article-title":"Variants in the DYX2 locus are associated with altered brain activation in reading-related brain regions in subjects with reading disability","volume":"63","author":"Cope","year":"2012","journal-title":"Neuroimage"},{"key":"10.1016\/j.ajhg.2013.05.008_bib16","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1046\/j.1365-3016.2001.00325.x","article-title":"ALSPAC\u2014the Avon Longitudinal Study of Parents and Children. I. Study methodology","volume":"15","author":"Golding","year":"2001","journal-title":"Paediatr. Perinat. Epidemiol."},{"key":"10.1016\/j.ajhg.2013.05.008_bib17","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1093\/ije\/dys064","article-title":"Cohort Profile: the \u2018children of the 90s\u2019\u2014the index offspring of the Avon Longitudinal Study of Parents and Children","volume":"42","author":"Boyd","year":"2013","journal-title":"Int. J. Epidemiol."},{"key":"10.1016\/j.ajhg.2013.05.008_bib18","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1111\/j.1469-1809.2008.00469.x","article-title":"Efficient association study design via power-optimized tag SNP selection","volume":"72","author":"Han","year":"2008","journal-title":"Ann. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.05.008_bib19","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.biopsych.2011.02.005","article-title":"DCDC2, KIAA0319 and CMIP are associated with reading-related traits","volume":"70","author":"Scerri","year":"2011","journal-title":"Biol. Psychiatry"},{"key":"10.1016\/j.ajhg.2013.05.008_bib20","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1093\/bioinformatics\/bth457","article-title":"Haploview: analysis and visualization of LD and haplotype maps","volume":"21","author":"Barrett","year":"2005","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2013.05.008_bib21","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"Purcell","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.05.008_bib22","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1101\/gr.081711.108","article-title":"A SILAC-based DNA protein interaction screen that identifies candidate binding proteins to functional DNA elements","volume":"19","author":"Mittler","year":"2009","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2013.05.008_bib23","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1038\/embor.2010.6","article-title":"A domesticated transposon mediates the effects of a single-nucleotide polymorphism responsible for enhanced muscle growth","volume":"11","author":"Butter","year":"2010","journal-title":"EMBO Rep."},{"key":"10.1016\/j.ajhg.2013.05.008_bib24","first-page":"281","article-title":"Analysis of protein-DNA binding by streptavidin-agarose pulldown","volume":"338","author":"Wu","year":"2006","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ajhg.2013.05.008_bib25","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1093\/nar\/11.5.1475","article-title":"Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei","volume":"11","author":"Dignam","year":"1983","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2013.05.008_bib26","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1111\/j.1469-7610.1996.tb01420.x","article-title":"Nonword repetition as a behavioural marker for inherited language impairment: evidence from a twin study","volume":"37","author":"Bishop","year":"1996","journal-title":"J.\u00a0Child Psychol. Psychiatry"},{"key":"10.1016\/j.ajhg.2013.05.008_bib27","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1016\/j.ajhg.2009.07.004","article-title":"CMIP and ATP2C2 modulate phonological short-term memory in language impairment","volume":"85","author":"Newbury","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.05.008_bib28","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1086\/426404","article-title":"A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States","volume":"75","author":"Francks","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.05.008_bib29","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/j.biopsych.2007.03.007","article-title":"A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability","volume":"62","author":"Luciano","year":"2007","journal-title":"Biol. Psychiatry"},{"key":"10.1016\/j.ajhg.2013.05.008_bib30","doi-asserted-by":"crossref","first-page":"1576","DOI":"10.1176\/appi.ajp.2008.07121872","article-title":"Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population","volume":"165","author":"Paracchini","year":"2008","journal-title":"Am. J. Psychiatry"},{"key":"10.1016\/j.ajhg.2013.05.008_bib31","doi-asserted-by":"crossref","first-page":"1659","DOI":"10.1093\/hmg\/ddl089","article-title":"The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration","volume":"15","author":"Paracchini","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2013.05.008_bib32","doi-asserted-by":"crossref","first-page":"e1000436","DOI":"10.1371\/journal.pgen.1000436","article-title":"A common variant associated with dyslexia reduces expression of the KIAA0319 gene","volume":"5","author":"Dennis","year":"2009","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2013.05.008_bib33","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1038\/sj.mp.4001904","article-title":"Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia","volume":"11","author":"Harold","year":"2006","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.ajhg.2013.05.008_bib34","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1038\/nature11233","article-title":"Landscape of transcription in human cells","volume":"489","author":"Djebali","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.05.008_bib35","doi-asserted-by":"crossref","first-page":"2392","DOI":"10.1101\/gad.12.15.2392","article-title":"The TEL\/ETV6 gene is required specifically for hematopoiesis in the bone marrow","volume":"12","author":"Wang","year":"1998","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2013.05.008_bib36","doi-asserted-by":"crossref","first-page":"e26348","DOI":"10.1371\/journal.pone.0026348","article-title":"The leukemia-specific fusion gene ETV6\/RUNX1 perturbs distinct key biological functions primarily by gene repression","volume":"6","author":"Fuka","year":"2011","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2013.05.008_bib37","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1186\/1741-7007-6-49","article-title":"A comprehensive functional analysis of tissue specificity of human gene expression","volume":"6","author":"Dezso","year":"2008","journal-title":"BMC Biol."},{"key":"10.1016\/j.ajhg.2013.05.008_bib38","doi-asserted-by":"crossref","first-page":"e86","DOI":"10.1371\/journal.pbio.0040086","article-title":"BGEM: an in\u00a0situ hybridization database of gene expression in the embryonic and adult mouse nervous system","volume":"4","author":"Magdaleno","year":"2006","journal-title":"PLoS Biol."},{"key":"10.1016\/j.ajhg.2013.05.008_bib39","doi-asserted-by":"crossref","first-page":"3161","DOI":"10.1523\/JNEUROSCI.22-08-03161.2002","article-title":"Dividing precursor cells of the embryonic cortical ventricular zone have morphological and molecular characteristics of radial glia","volume":"22","author":"Noctor","year":"2002","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.ajhg.2013.05.008_bib40","doi-asserted-by":"crossref","first-page":"3716","DOI":"10.1038\/sj.onc.1204479","article-title":"TEL contacts multiple co-repressors and specifically associates with histone deacetylase-3","volume":"20","author":"Wang","year":"2001","journal-title":"Oncogene"},{"key":"10.1016\/j.ajhg.2013.05.008_bib41","doi-asserted-by":"crossref","first-page":"18496","DOI":"10.1074\/jbc.M109.096958","article-title":"DNA binding by the ETS protein TEL (ETV6) is regulated by autoinhibition and self-association","volume":"285","author":"Green","year":"2010","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.05.008_bib42","doi-asserted-by":"crossref","first-page":"4173","DOI":"10.1093\/emboj\/20.15.4173","article-title":"Polymerization of the SAM domain of TEL in leukemogenesis and transcriptional repression","volume":"20","author":"Kim","year":"2001","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2013.05.008_bib43","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1073\/pnas.1119675109","article-title":"The mystery of missing heritability: Genetic interactions create phantom heritability","volume":"109","author":"Zuk","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"}],"updated-by":[{"DOI":"10.1016\/j.ajhg.2014.04.001","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2014,5,1]],"date-time":"2014-05-01T00:00:00Z","timestamp":1398902400000}}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713002218?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713002218?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,7,14]],"date-time":"2019-07-14T16:51:47Z","timestamp":1563123107000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929713002218"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7]]},"references-count":43,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["S0002929713002218"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.05.008","relation":{"erratum":[{"id-type":"doi","id":"10.1016\/j.ajhg.2014.04.001","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2013,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.05.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}