2012
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways
Griswold A, Ma D, Cukier H, Nations L, Schmidt M, Chung R, Jaworski J, Salyakina D, Konidari I, Whitehead P, Wright H, Abramson R, Williams S, Menon R, Martin E, Haines J, Gilbert J, Cuccaro M, Pericak-Vance M. Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Human Molecular Genetics 2012, 21: 3513-3523. PMID: 22543975, PMCID: PMC3392110, DOI: 10.1093/hmg/dds164.Peer-Reviewed Original ResearchConceptsCandidate genesGABA receptor-associated proteinNumber variationsNew candidate genesNovel candidate genesNovel susceptibility genesNeural development pathwaysReceptor-associated proteinCopy number variationsModel vertebrateASD heritabilityTranscription factorsLoci contributeMore genesNovel etiological mechanismsCNV regionsGenetic lociSNP arrayNotch ligandsAllosteric bindersGenesCase-control data setsSusceptibility genesNovel regionSize of deletions
2009
Common genetic variants on 5p14.1 associate with autism spectrum disorders
Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009, 459: 528-533. PMID: 19404256, PMCID: PMC2943511, DOI: 10.1038/nature07999.Peer-Reviewed Original ResearchMeSH KeywordsAutistic DisorderBrainCadherinsCase-Control StudiesCell AdhesionCell Adhesion Molecules, NeuronalChromosomes, Human, Pair 5Cohort StudiesGenetic MarkersGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenotypeHumansPolymorphism, Single NucleotideReproducibility of ResultsConceptsGenome-wide significant associationGenome-wide association studiesStrongest association signalCommon genetic variantsNeuronal cell adhesion moleculeSingle nucleotide polymorphismsAssociation signalsCell adhesion moleculeAssociation studiesCadherin-10Common genetic risk factorPathogenesis of ASDGenetic variantsNucleotide polymorphismsCadherin-9Common variantsEuropean ancestryGenetic risk factorsFirst demonstrationGenesRs4307059VariantsIndependent cohortNeuropsychiatric disordersAncestry
2006
Bone Density Interpretation and Relevance in Caucasian Children Aged 9–17 Years of Age: Insights From a Population-Based Fracture Study
Jones G, Ma D, Cameron F. Bone Density Interpretation and Relevance in Caucasian Children Aged 9–17 Years of Age: Insights From a Population-Based Fracture Study. Journal Of Clinical Densitometry 2006, 9: 202-209. PMID: 16785082, DOI: 10.1016/j.jocd.2006.02.004.Peer-Reviewed Original ResearchConceptsBone mineral apparent densityBone mineral densityBone mineral contentFracture riskBone densityBone areaPopulation-based case-control studyUpper limb fracture riskZ-scoreSpine bone mineral densityUpper limb fracturesSpine bone mineral apparent densityCase-control studySpecific z-scoresBone density measurementsYears of ageAge-specific z-scoresUncertain clinical significanceForearm fracturesLimb fracturesChildren Aged 9BMD sitesClinical endpointsMineral densityClinical significance
2005
Skeletal age deviation assessed by the Tanner–Whitehouse 2 method is associated with bone mass and fracture risk in children
Jones G, Ma D. Skeletal age deviation assessed by the Tanner–Whitehouse 2 method is associated with bone mass and fracture risk in children. Bone 2005, 36: 352-357. PMID: 15780962, DOI: 10.1016/j.bone.2004.11.001.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAge Determination by SkeletonArm InjuriesBone DensityCase-Control StudiesChildFemaleFractures, BoneHumansMaleRisk FactorsConceptsSkeletal age deviationBone mineral densityUpper limb fracture riskDual-energy X-ray absorptiometryFracture riskMetacarpal indexFracture casesPopulation-based case-control studyCase-control studyX-ray absorptiometrySkeletal ageMean skeletal ageStrength of associationBone healthHand fracturesBone massMineral densityTanner-Whitehouse 2 methodBone densityFracture associationBone strengthFemale childrenAge deviationAgeSignificant differences
2004
Soft Drink and Milk Consumption, Physical Activity, Bone Mass, and Upper Limb Fractures in Children: A Population-Based Case-Control Study
Ma D, Jones G. Soft Drink and Milk Consumption, Physical Activity, Bone Mass, and Upper Limb Fractures in Children: A Population-Based Case-Control Study. Calcified Tissue International 2004, 75: 286-291. PMID: 15549642, DOI: 10.1007/s00223-004-0274-y.Peer-Reviewed Original ResearchConceptsBone mineral densityDual-energy X-ray absorptiometryUpper limb fracturesCase-control studyFracture riskBone massMineral densityPhysical activityForearm fracturesLimb fracturesPopulation-based case-control studyMilk consumptionCarbonated beverage consumptionUpper arm fracturesInterviewer-administered questionnaireX-ray absorptiometrySoft drinksAverage weekly consumptionHand fracturesMetacarpal morphometryArm fracturesCola consumptionTotal bodyMilk intakeFracture casesRisk-taking, coordination and upper limb fractures in children: a population based case-control study
Ma D, Morley R, Jones G. Risk-taking, coordination and upper limb fractures in children: a population based case-control study. Osteoporosis International 2004, 15: 633-638. PMID: 14735299, DOI: 10.1007/s00198-003-1579-9.Peer-Reviewed Original ResearchConceptsUpper limb fracturesDual-energy X-ray absorptiometryCase-control studyDynamic balance scoresLimb fracturesFracture riskForearm fracturesBone massMotor coordinationBalance scoresFracture siteEnergy X-ray absorptiometryFracture prevention strategiesInterview-administered questionnaireUpper arm fracturesX-ray absorptiometryRisk-taking behaviorHand fracturesMetacarpal morphometryArm fracturesDynamic balancePrevention strategiesFracture casesMovement ABCUpper arm
2003
Television, Computer, and Video Viewing; Physical Activity; and Upper Limb Fracture Risk in Children: A Population‐Based Case Control Study*
MA D, Jones G. Television, Computer, and Video Viewing; Physical Activity; and Upper Limb Fracture Risk in Children: A Population‐Based Case Control Study*. Journal Of Bone And Mineral Research 2003, 18: 1970-1977. PMID: 14606509, DOI: 10.1359/jbmr.2003.18.11.1970.Peer-Reviewed Original ResearchConceptsPopulation-based case-control studyLevels of physical activityPhysical activityUpper limb fracture riskCase-control studyForearm fracture riskUpper limb fracturesSports participationMetacarpal morphometryFracture riskLimb fracturesEffects of physical activityGender-specific risk estimateForearm fracturesDecreased riskAssociated with wristInterviewer administered questionnaireDose-response associationControlled studiesHigh-risk sport participantsDose-dependent associationDecreased wristGender-matched pairsYears of ageIndividual sports