2024
Phonological awareness mediates the relationship between DCDC2 and reading performance with home environment
Li M, DeMille M, Lovett M, Bosson-Heenan J, Frijters J, Gruen J. Phonological awareness mediates the relationship between DCDC2 and reading performance with home environment. Npj Science Of Learning 2024, 9: 36. PMID: 38702345, PMCID: PMC11068914, DOI: 10.1038/s41539-024-00247-5.Peer-Reviewed Original ResearchPhonological awarenessSocioeconomic statusDevelopment of genetic screeningReading outcomesParental educationReading performanceHome environmentPhonological processing skillsChildren aged 8Phonological processingPhonological skillsRisk of reading disabilityProficient readingAfrican AmericansAged 8Environmental factorsProcess skillsAnalyzed dataREAD1Family backgroundHomeAwarenessEducationAssociationOutcomes
2023
The Rosetta Phenotype Harmonization Method Facilitates Finding a Relationship Quantitative Trait Locus for a Complex Cognitive Trait
Petrill S, Klamer B, Buyske S, Willcutt E, Gruen J, Francis D, Flax J, Brzustowicz L, Bartlett C. The Rosetta Phenotype Harmonization Method Facilitates Finding a Relationship Quantitative Trait Locus for a Complex Cognitive Trait. Genes 2023, 14: 1748. PMID: 37761888, PMCID: PMC10531321, DOI: 10.3390/genes14091748.Peer-Reviewed Original Research
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 studiesDiscoveryOrthographic Depth May Influence the Degree of Severity of Maze Learning Performance in Children at Risk for Reading Disorder
Gabel L, Battison A, Truong D, Lindström E, Voss K, Yu Y, Roongruengratanakul S, Shyntassov K, Riebesell S, Toumanios N, Nielsen-Pheiffer C, Paniagua S, Gruen J. Orthographic Depth May Influence the Degree of Severity of Maze Learning Performance in Children at Risk for Reading Disorder. Developmental Neuroscience 2022, 44: 651-670. PMID: 36223729, PMCID: PMC9928771, DOI: 10.1159/000527480.Peer-Reviewed Original ResearchConceptsLow reading skillsOrthographic depthReading skillsNative EnglishSame neural networkLack of textCognitive predictorsReading networkCognitive processesImpaired performanceGenetic riskLanguage orthographyDegree of impairmentDiverse sampleActivation patternsNeural networkNative GermansTaskOral reportingMazeOrthographyRecent researchImpairmentChildrenEnglish7 The Genetics of Disorders Affecting the Premature Newborn
Prosnitz A, Gruen J, Bhandari V. 7 The Genetics of Disorders Affecting the Premature Newborn. 2022, 149-185. DOI: 10.1016/b978-0-12-815236-2.00006-0.Peer-Reviewed Original ResearchCommon disorderPatent ductus arteriosusRespiratory distress syndromeRetinopathy of prematurityMultiple gene-environment interactionsPathogenesis of disordersBronchopulmonary dysplasiaPreterm infantsDistress syndromeIntraventricular hemorrhageNecrotizing enterocolitisDuctus arteriosusIL-10Premature birthPremature newbornsIL-1βIL-6IGF-1RIL-4RαGene-environment interactionsPrematurityGenetics of disordersReactive oxygen speciesDisordersSurfactant proteins
2017
Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC
Adams AK, Smith SD, Truong DT, Willcutt EG, Olson RK, DeFries JC, Pennington BF, Gruen JR. Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC. Human Genetics 2017, 136: 1395-1405. PMID: 28866788, PMCID: PMC5702371, DOI: 10.1007/s00439-017-1838-z.Peer-Reviewed Original ResearchReading‐Related Causal Attributions for Success and Failure: Dynamic Links With Reading Skill
Frijters JC, Tsujimoto KC, Boada R, Gottwald S, Hill D, Jacobson LA, Lovett MW, Mahone EM, Willcutt EG, Wolf M, Bosson‐Heenan J, Gruen JR. Reading‐Related Causal Attributions for Success and Failure: Dynamic Links With Reading Skill. Reading Research Quarterly 2017, 53: 127-148. PMID: 29391653, PMCID: PMC5788039, DOI: 10.1002/rrq.189.Peer-Reviewed Original ResearchReading outcomesSuccess situationsSkill levelSchool-aged childrenPhonological awarenessSight wordsLinguistic predictorsWord recognitionComprehension skillsCausal attributionsAttributionHigher skill levelsSkillsUnderstudied populationIndividual assessmentReadingChildrenFluencyHispanic AmericansDynamic linkSituationWordsPresent studyYouthParticipants
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 studyDeficitsExecutive Functions Contribute Uniquely to Reading Competence in Minority Youth
Jacobson LA, Koriakin T, Lipkin P, Boada R, Frijters JC, Lovett MW, Hill D, Willcutt E, Gottwald S, Wolf M, Bosson-Heenan J, Gruen JR, Mahone EM. Executive Functions Contribute Uniquely to Reading Competence in Minority Youth. Journal Of Learning Disabilities 2016, 50: 422-433. PMID: 26755569, PMCID: PMC5960349, DOI: 10.1177/0022219415618501.Peer-Reviewed Original ResearchConceptsExecutive functionAttentional switchingMinority youthDomain-general processesComponents of readingInformation processing speedHierarchical linear regressionWord readingExecutive skillsAssessment of individualsCompetent readingReading interventionLanguage skillsContextual wordsProcessing speedFluencyUnique contributionComprehensionSkillsYouthMinority backgroundsReadingEthnic minority groupsCaucasian samplesCompetence
2014
Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment
Powers N, Eicher J, Butter F, Kong Y, Miller L, Ring S, Mann M, Gruen J. Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment. American Journal Of Human Genetics 2014, 94: 798. PMCID: PMC4067563, DOI: 10.1016/j.ajhg.2014.04.001.Peer-Reviewed Original ResearchIron Metabolism and Related Disorders
Hoda K, Bowlus C, Chu T, Gruen J. Iron Metabolism and Related Disorders. 2014 DOI: 10.1016/b978-0-12-801238-3.05573-2.Peer-Reviewed Original ResearchHereditary hemochromatosisIron overloadIron metabolismAbnormal iron metabolismNorthern European descentIron exporter ferroportinAutosomal recessive conditionHepcidin productionCommon syndromeHepcidin deficiencyRare caseAccumulation of ironRelated disordersSyndromeIntestinal cellsSideroblastic anemiaRecessive conditionHepcidin bindingEuropean descentHepcidinFriedreich's ataxiaAtaxiaLiverIron homeostasisFerroportinThe Genetics of Disorders Affecting the Premature Newborn
Prosnitz A, Gruen J, Bhandari V. The Genetics of Disorders Affecting the Premature Newborn. 2014 DOI: 10.1016/b978-0-12-801238-3.05514-8.Peer-Reviewed Original ResearchPatent ductus arteriosusRespiratory distress syndromeRetinopathy of prematurityBronchopulmonary dysplasiaIntraventricular hemorrhageNecrotizing enterocolitisDistress syndromeDuctus arteriosusPremature newbornsCommon disorderGenetics of disordersGenetic etiologyDisordersEnterocolitisArteriosusPrematurityHemorrhageRetinopathyNewbornsDysplasiaInfantsSyndromeEtiology
2013
Genome‐wide association study of shared components of reading disability and language impairment
Eicher JD, Powers NR, Miller LL, Akshoomoff N, Amaral DG, Bloss CS, Libiger O, Schork NJ, Darst BF, Casey BJ, Chang L, Ernst T, Frazier J, Kaufmann WE, Keating B, Kenet T, Kennedy D, Mostofsky S, Murray SS, Sowell ER, Bartsch H, Kuperman JM, Brown TT, Hagler DJ, Dale AM, Jernigan TL, St. Pourcain B, Smith G, Ring SM, Gruen JR, for the Pediatric Imaging N. Genome‐wide association study of shared components of reading disability and language impairment. Genes Brain & Behavior 2013, 12: 792-801. PMID: 24024963, PMCID: PMC3904347, DOI: 10.1111/gbb.12085.Peer-Reviewed Original ResearchImaging-genetics in dyslexia: Connecting risk genetic variants to brain neuroimaging and ultimately to reading impairments
Eicher JD, Gruen JR. Imaging-genetics in dyslexia: Connecting risk genetic variants to brain neuroimaging and ultimately to reading impairments. Molecular Genetics And Metabolism 2013, 110: 201-212. PMID: 23916419, PMCID: PMC3800223, DOI: 10.1016/j.ymgme.2013.07.001.Peer-Reviewed Original ResearchAlleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment
Powers NR, Eicher JD, Butter F, Kong Y, Miller LL, Ring SM, Mann M, Gruen JR. Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment. American Journal Of Human Genetics 2013, 93: 19-28. PMID: 23746548, PMCID: PMC3710765, DOI: 10.1016/j.ajhg.2013.05.008.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBase SequenceBinding SitesCase-Control StudiesDyslexiaGenetic Association StudiesHaplotypesHeLa CellsHumansLanguage Development DisordersLanguage TestsLinkage DisequilibriumMicrosatellite RepeatsMicrotubule-Associated ProteinsMolecular Sequence DataPhylogenyPolymorphism, GeneticPromoter Regions, GeneticProtein BindingProto-Oncogene Proteins c-etsRepressor ProteinsRisk FactorsAssociations of Prenatal Nicotine Exposure and the Dopamine Related Genes ANKK1 and DRD2 to Verbal Language
Eicher JD, Powers NR, Cho K, Miller LL, Mueller KL, Ring SM, Tomblin JB, Gruen JR. Associations of Prenatal Nicotine Exposure and the Dopamine Related Genes ANKK1 and DRD2 to Verbal Language. PLOS ONE 2013, 8: e63762. PMID: 23691092, PMCID: PMC3655151, DOI: 10.1371/journal.pone.0063762.Peer-Reviewed Original ResearchConceptsPrenatal nicotine exposureANKK1/DRD2Nicotine exposureNicotine dependenceDose-response fashionAvon Longitudinal StudyCase-control cohortAssociation of markersPrenatal environmental factorsPrenatal nicotineLanguage impairmentLanguage tasksNeurobehavioral disordersEtiological determinantsNeural circuitsUtero developmentLongitudinal studyDRD2Communication disordersRiskRelated pathwaysAssociationExposureDisordersANKK1Genome‐wide association studies of severe communication processes and affectation of multiple prevalent pediatric communication disorders
Eicher J, Powers N, Gruen J. Genome‐wide association studies of severe communication processes and affectation of multiple prevalent pediatric communication disorders. The FASEB Journal 2013, 27: 533.5-533.5. DOI: 10.1096/fasebj.27.1_supplement.533.5.Peer-Reviewed Original ResearchChapter 101 Iron Metabolism and Related Disorders
Hoda K, Bowlus C, Chu T, Gruen J. Chapter 101 Iron Metabolism and Related Disorders. 2013, 1-41. DOI: 10.1016/b978-0-12-383834-6.00106-3.Peer-Reviewed Original ResearchChapter 41 The Genetics of Disorders Affecting the Premature Newborn
Prosnitz A, Gruen J, Bhandari V. Chapter 41 The Genetics of Disorders Affecting the Premature Newborn. 2013, 1-22. DOI: 10.1016/b978-0-12-383834-6.00171-3.Peer-Reviewed Original ResearchCommon disorderPatent ductus arteriosusRespiratory distress syndromeRetinopathy of prematurityMultiple gene-environment interactionsPathogenesis of disordersBronchopulmonary dysplasiaDistress syndromeIntraventricular hemorrhageNecrotizing enterocolitisPreterm infantsDuctus arteriosusIL-10Premature birthPremature newbornsIL-1βIL-6IGF-1RIL-4RαGene-environment interactionsPrematurityGenetics of disordersReactive oxygen speciesDisordersSurfactant proteins
2012
Prenatal Exposure to Nicotine and Impaired Reading Performance
Cho K, Frijters JC, Zhang H, Miller LL, Gruen JR. Prenatal Exposure to Nicotine and Impaired Reading Performance. The Journal Of Pediatrics 2012, 162: 713-718.e2. PMID: 23122624, PMCID: PMC3577994, DOI: 10.1016/j.jpeds.2012.09.041.Peer-Reviewed Original ResearchConceptsSchool-aged childrenPrenatal nicotine exposureSkill outcomesAge childrenLongitudinal studyPotential mediatorsNicotine exposureSkills of childrenPhonological deficitPrenatal exposureRisk of underperformanceReading performanceSingle wordsAvon Longitudinal StudyLongitudinal samplePoor performanceLarge associationsNegative associationChildrenAreas of speedParentsSpellingFluencyNicotineComprehension