2022
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients
Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer‐Manzon M, Jiang Y, McGrath J, Li P, Bale A, Zhang H. Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients. American Journal Of Medical Genetics Part A 2022, 188: 1728-1738. PMID: 35199448, DOI: 10.1002/ajmg.a.62693.Peer-Reviewed Original ResearchConceptsPediatric patientsWhole-exome sequencingCase seriesAR diseasesPathogenic variantsLarge consecutive case seriesConsecutive case seriesLarge case seriesUniparental disomyLikely pathogenic variantsRegions of homozygosityChromosomal microarray analysisAutosomal recessive diseasePrader-Willi syndromeDiagnostic findingsDiagnostic yieldPatientsPredictive valueGenetic testingHomozygous variantDiseaseExome sequencingRecessive diseaseGenetic counselingStrongest predictor
2012
The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alterations in MBD5, MBD6, and SETDB1
Cukier HN, Lee JM, Ma D, Young JI, Mayo V, Butler BL, Ramsook SS, Rantus JA, Abrams AJ, Whitehead PL, Wright HH, Abramson RK, Haines JL, Cuccaro ML, Pericak-Vance MA, Gilbert JR. The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alterations in MBD5, MBD6, and SETDB1. Autism Research 2012, 5: 385-397. PMID: 23055267, PMCID: PMC3528798, DOI: 10.1002/aur.1251.Peer-Reviewed Original ResearchEvaluation 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
2011
Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk
Salyakina D, Cukier H, Lee J, Sacharow S, Nations L, Ma D, Jaworski J, Konidari I, Whitehead P, Wright H, Abramson R, Williams S, Menon R, Haines J, Gilbert J, Cuccaro M, Pericak-Vance M. Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk. PLOS ONE 2011, 6: e26049. PMID: 22016809, PMCID: PMC3189231, DOI: 10.1371/journal.pone.0026049.Peer-Reviewed Original ResearchMicroduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21
Cukier H, Salyakina D, Blankstein S, Robinson J, Sacharow S, Ma D, Wright H, Abramson R, Menon R, Williams S, Haines J, Cuccaro M, Gilbert J, Pericak‐Vance M. Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2011, 156: 493-501. PMID: 21480499, PMCID: PMC5490366, DOI: 10.1002/ajmg.b.31188.Peer-Reviewed Original Research
2010
Variants in several genomic regions associated with asperger disorder
Salyakina D, Ma D, Jaworski J, Konidari I, Whitehead P, Henson R, Martinez D, Robinson J, Sacharow S, Wright H, Abramson R, Gilbert J, Cuccaro M, Pericak‐Vance M. Variants in several genomic regions associated with asperger disorder. Autism Research 2010, 3: 303-310. PMID: 21182207, PMCID: PMC4435556, DOI: 10.1002/aur.158.Peer-Reviewed Original ResearchConceptsASP familiesWide association studyGenetic risk factorsGenomic regionsChromosomal regionsAssociation studiesAssociation resultsLinkage regionNovel regionLinkage areasGenetic heterogeneityCommon variationFamilyAssociation regionsDiscovery dataAutism spectrum disorderAsperger's disorderPhenotypeHomogenous subsetsRegionVariants
2009
A Genome‐wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1
Ma D, Salyakina D, Jaworski J, Konidari I, Whitehead P, Andersen A, Hoffman J, Slifer S, Hedges D, Cukier H, Griswold A, McCauley J, Beecham G, Wright H, Abramson R, Martin E, Hussman J, Gilbert J, Cuccaro M, Haines J, Pericak‐Vance M. A Genome‐wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1. Annals Of Human Genetics 2009, 73: 263-273. PMID: 19456320, PMCID: PMC2918410, DOI: 10.1111/j.1469-1809.2009.00523.x.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGenetic architectureAssociation studiesGenome-wide association studiesComplex genetic architectureIllumina Human 1M beadchipUnderlying genetic architectureK Illumina BeadChipWide association studyNovel risk lociHeritable neuropsychiatric disorderChromosome 5p14.1Common variationRisk lociIllumina BeadChipNovel regionNucleotide polymorphismsAutism familiesBeadChipRare variationDiscovery datasetCaucasian familiesIndependent datasetsFamilyLoci
2007
Determinants of Skeletal Age Deviation in a Cross-Sectional Study
Powell S, Ma D, Jones G. Determinants of Skeletal Age Deviation in a Cross-Sectional Study. The Journal Of Clinical Endocrinology & Metabolism 2007, 93: 521-526. PMID: 18056773, DOI: 10.1210/jc.2007-1139.Peer-Reviewed Original ResearchConceptsSkeletal age deviationCross-sectional studyFracture riskBone massBody compositionPopulation-based cross-sectional studyBone-free lean massHabitual physical activitySunlight exposureCorticosteroid useMedication usePerinatal factorsGrip strengthFat massStrenuous exerciseTanner stageTanner-Whitehouse 2 methodLean massPhysical activityHypothesis generatingMilk drinkingMultivariate analysisSignificant associationFemale childrenAge deviation
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
Ordered‐subset analysis of savant skills in autism for 15q11‐q13
Ma D, Jaworski J, Menold M, Donnelly S, Abramson R, Wright H, Delong G, Gilbert J, Pericak‐Vance M, Cuccaro M. Ordered‐subset analysis of savant skills in autism for 15q11‐q13. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2005, 135B: 38-41. PMID: 15756693, DOI: 10.1002/ajmg.b.30166.Peer-Reviewed Original ResearchSkeletal 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 ResearchConceptsSkeletal 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 sportsKnee Articular Cartilage Development in Children: A Longitudinal Study of the Effect of Sex, Growth, Body Composition, and Physical Activity
Jones G, Ding C, Glisson M, Hynes K, Ma D, Cicuttini F. Knee Articular Cartilage Development in Children: A Longitudinal Study of the Effect of Sex, Growth, Body Composition, and Physical Activity. Pediatric Research 2003, 54: 230-236. PMID: 12736391, DOI: 10.1203/01.pdr.0000072781.93856.e6.Peer-Reviewed Original ResearchConceptsArticular cartilage volumePhysical activityCartilage volumeTanner stageEffects of sexPhysical activity associationsArticular cartilageLateral tibial compartmentHigh accrual rateOverweight childrenMedial tibialArticular cartilage developmentTibial compartmentBody compositionVigorous sportsMost childrenFemale childrenTibialNormal childrenWeight changeActivity associationsCartilage developmentLater lifeAverage intervalAccrual rateThe Association between Bone Mineral Density, Metacarpal Morphometry, and Upper Limb Fractures in Children: A Population-Based Case-Control Study
Ma D, Jones G. The Association between Bone Mineral Density, Metacarpal Morphometry, and Upper Limb Fractures in Children: A Population-Based Case-Control Study. The Journal Of Clinical Endocrinology & Metabolism 2003, 88: 1486-1491. PMID: 12679427, DOI: 10.1210/jc.2002-021682.Peer-Reviewed Original ResearchConceptsUpper limb fracturesBone mineral apparent densityCase-control studyBone mineral densityMetacarpal indexLimb fracturesForearm fracturesMineral densityBone massPopulation-based case-control studyDXA measuresAreal bone mineral densitySpine bone mineral apparent densityRisk of fractureDual-energy absorptiometryMetacarpal morphometryCortical widthFracture casesHand radiographsWristSignificant predictorsMultivariate modelingChildrenAssociationFractures
2002
Clinical risk factors but not bone density are associated with prevalent fractures in prepubertal children
Ma D, Jones G. Clinical risk factors but not bone density are associated with prevalent fractures in prepubertal children. Journal Of Paediatrics And Child Health 2002, 38: 497-500. PMID: 12354268, DOI: 10.1046/j.1440-1754.2002.00037.x.Peer-Reviewed Original ResearchConceptsBone mineral densityClinical risk factorsPrevalent fracturesRisk factorsPrepubertal childrenBone densityDual-energy X-ray absorptiometryTotal fracture riskLow-energy fallsOdds of fractureSports participationApparent bone mineral densityX-ray absorptiometryTotal body boneMaternal fracturesOral prednisoloneAsthma historyCorticosteroid usageMaternal smokingFemoral neckFracture riskMineral densityClinical dataLumbar spineBody bone