2022
Discovery of 42 genome-wide significant loci associated with dyslexia
Doust C, Fontanillas P, Eising E, Gordon SD, Wang Z, Alagöz G, Molz B, Pourcain B, Francks C, Marioni R, Zhao J, Paracchini S, Talcott J, Monaco A, Stein J, Gruen J, Olson R, Willcutt E, DeFries J, Pennington B, Smith S, Wright M, Martin N, Auton A, Bates T, Fisher S, Luciano M. Discovery of 42 genome-wide significant loci associated with dyslexia. Nature Genetics 2022, 54: 1621-1629. PMID: 36266505, PMCID: PMC9649434, DOI: 10.1038/s41588-022-01192-y.Peer-Reviewed Original ResearchConceptsGenome-wide significant lociSignificant lociIndependent genome-wide significant lociWide association studyGenetic covarianceAssociation studiesGenetic markersLociGenetic etiologyEuropean ancestryTraitsPolygenic scoresCrucial life skillGenesHeritabilityIndependent cohortAncestryFamily studiesDiscovery
2016
Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders
Truong DT, Shriberg LD, Smith SD, Chapman KL, Scheer-Cohen AR, DeMille MM, Adams AK, Nato AQ, Wijsman EM, Eicher JD, Gruen JR. Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders. Human Genetics 2016, 135: 1329-1341. PMID: 27535846, PMCID: PMC5065602, DOI: 10.1007/s00439-016-1717-z.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overChildChild, PreschoolChromosome MappingChromosomes, Human, Pair 13Drosophila ProteinsDyslexiaFemaleGenetic LinkageGenetic Predisposition to DiseaseGenotypeHumansLanguage DisordersLod ScoreMaleMembrane ProteinsMiddle AgedNuclear ProteinsPedigreeQuantitative Trait LociReadingSpeech DisordersWritingConceptsNonword repetitionSpecific language impairmentCognitive processesLanguage impairmentAuditory processingVerbal developmentMotor planningPerson's abilityRobust endophenotypesMultigenerational familiesLanguage traitsRepetitionDisordersGenome-wide linkage scanSpellingVariance component linkage analysisCausal genetic factorsMultipoint variance component linkage analysisMemoryEndophenotypesSpeechChromosome 13qFuture studiesPresent studyDeficits
2005
DCDC2 is associated with reading disability and modulates neuronal development in the brain
Meng H, Smith SD, Hager K, Held M, Liu J, Olson RK, Pennington BF, DeFries JC, Gelernter J, O'Reilly-Pol T, Somlo S, Skudlarski P, Shaywitz SE, Shaywitz BA, Marchione K, Wang Y, Paramasivam M, LoTurco JJ, Page GP, Gruen JR. DCDC2 is associated with reading disability and modulates neuronal development in the brain. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 17053-17058. PMID: 16278297, PMCID: PMC1278934, DOI: 10.1073/pnas.0508591102.Peer-Reviewed Original Research