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 ResearchMeSH KeywordsChildConsanguinityExome SequencingHomozygoteHumansPolymorphism, Single NucleotidePrader-Willi SyndromeUniparental DisomyConceptsPediatric 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
A de novo 1.5 Mb microdeletion on chromosome 14q23.2‐23.3 in a patient with autism and spherocytosis
Griswold A, Ma D, Sacharow S, Robinson J, Jaworski J, Wright H, Abramson R, Lybæk H, Øyen N, Cuccaro M, Gilbert J, Pericak‐Vance M. A de novo 1.5 Mb microdeletion on chromosome 14q23.2‐23.3 in a patient with autism and spherocytosis. Autism Research 2011, 4: 221-227. PMID: 21360829, PMCID: PMC3110642, DOI: 10.1002/aur.186.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAllelesAutistic DisorderChromosome DeletionChromosomes, Human, Pair 14ComorbidityDNA Copy Number VariationsGene FrequencyGenetic Association StudiesGenotypeHumansIntellectual DisabilityLearning DisabilitiesMaleMethylenetetrahydrofolate Dehydrogenase (NADP)Minor Histocompatibility AntigensPedigreePhenotypePolymorphism, Single NucleotideSpherocytosis, HereditaryConceptsCopy number variationsGenetic analysis of biological pathway data through genomic randomization
Yaspan B, Bush W, Torstenson E, Ma D, Pericak-Vance M, Ritchie M, Sutcliffe J, Haines J. Genetic analysis of biological pathway data through genomic randomization. Human Genetics 2011, 129: 563-571. PMID: 21279722, PMCID: PMC3107984, DOI: 10.1007/s00439-011-0956-2.Peer-Reviewed Original ResearchMeSH KeywordsAutistic DisorderGenome-Wide Association StudyHumansLinkage DisequilibriumMetabolic Networks and PathwaysPolymorphism, Single NucleotideRandom AllocationConceptsGenome-wide association studiesGWAS datasetsWide association studyRandomization Incorporating StructurePotential epistatic effectsGWAS resultsGene sizeSNP coverageKEGG databaseBiological pathway dataSingle locusEpistatic effectsGenetic analysisPathway analysisAssociation studiesSNP allelesAssociation resultsAssociation analysis methodLinkage disequilibriumSignificant enrichmentPathway dataPathway sizeVariants of interestMultiple testing correctionSmall main effect
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 subsetsRegionVariantsAssociation and gene–gene interaction of SLC6A4 and ITGB3 in autism
Ma D, Rabionet R, Konidari I, Jaworski J, Cukier H, Wright H, Abramson R, Gilbert J, Cuccaro M, Pericak‐Vance M, Martin E. Association and gene–gene interaction of SLC6A4 and ITGB3 in autism. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2010, 153B: 477-483. PMID: 19588468, PMCID: PMC3735126, DOI: 10.1002/ajmg.b.31003.Peer-Reviewed Original Research
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 disordersAncestryA 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
2008
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate
Chiquet B, Blanton S, Burt A, Ma D, Stal S, Mulliken J, Hecht J. Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. Human Molecular Genetics 2008, 17: 2212-2218. PMID: 18413325, PMCID: PMC2852032, DOI: 10.1093/hmg/ddn121.Peer-Reviewed Original ResearchMeSH KeywordsCleft LipCleft PalateEthnicityFemaleGenetic LinkageGenetic Predisposition to DiseaseGenetic VariationHumansMaleMultigene FamilyPhenotypePolymorphism, Single NucleotideWnt ProteinsConceptsSingle nucleotide polymorphismsWnt genesNon-syndromic cleft lipWnt gene functionUpper lip fusionParent-child triosGene functionNSCLP familiesWnt familyCommon birth defectsGene-gene interactionsLip fusionWnt9b geneMultiple haplotypesGenesWnt-5aNucleotide polymorphismsGenetic contributionWnt3aWnt11NSCLPFacial processesWnt3Environmental factorsBirth defects
2007
Investigation of potential gene–gene interactions between apoe and reln contributing to autism risk
Ashley-Koch A, Jaworski J, Ma D, Mei H, Ritchie M, Skaar D, Delong G, Worley G, Abramson R, Wright H, Cuccaro M, Gilbert J, Martin E, Pericak-Vance M. Investigation of potential gene–gene interactions between apoe and reln contributing to autism risk. Psychiatric Genetics 2007, 17: 221-226. PMID: 17621165, DOI: 10.1097/ypg.0b013e32809c2f75.Peer-Reviewed Original ResearchApolipoproteins EAutistic DisorderCell Adhesion Molecules, NeuronalElectron Spin Resonance SpectroscopyExtracellular Matrix ProteinsFamilyFemaleGenetic Predisposition to DiseaseHumansMaleNerve Tissue ProteinsPolymorphism, GeneticPolymorphism, Single NucleotideReelin ProteinRisk AssessmentSerine EndopeptidasesUnited StatesWhite People
2006
Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14
Ma D, Cuccaro M, Jaworski J, Haynes C, Stephan D, Parod J, Abramson R, Wright H, Gilbert J, Haines J, Pericak-Vance M. Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14. Molecular Psychiatry 2006, 12: 376-384. PMID: 17179998, DOI: 10.1038/sj.mp.4001927.Peer-Reviewed Original ResearchConceptsSib-pair familiesLinkage evidenceLocus heterogeneityHigh-density single nucleotide polymorphismTwo-point analysisGenome-wide linkage analysisChromosome 12qNovel linkage peakAffymetrix GeneChip Human Mapping 10K arrayMapping 10K ArraySignificant linkage resultsSignificant linkage evidenceSuggestive linkage evidenceSignificant genetic componentSingle nucleotide polymorphismsSubstantial locus heterogeneityLinkage peakCandidate genesChromosome 12Genome screenK arrayAutism genesLinkage analysisAffected individualsCM regionInvestigation of autism and GABA receptor subunit genes in multiple ethnic groups
Collins A, Ma D, Whitehead P, Martin E, Wright H, Abramson R, Hussman J, Haines J, Cuccaro M, Gilbert J, Pericak-Vance M. Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. Neurogenetics 2006, 7: 167-174. PMID: 16770606, PMCID: PMC1513515, DOI: 10.1007/s10048-006-0045-1.Peer-Reviewed Original ResearchMeSH KeywordsAutistic DisorderEthnicityGene FrequencyGenetic Predisposition to DiseaseGenetic TestingGenetic VariationHaplotypesHumansLinkage DisequilibriumPolymorphism, Single NucleotideReceptors, GABAConceptsSingle nucleotide polymorphismsReceptor subunit genesGABA receptor subunit genesLevels of GABAAutism patientsMultiple ethnic groupsSeizure activityGABAergic systemSynaptic inhibitionPositive historyGABA receptorsAdult brainEthnic groupsSignificant associationAutistic patientsPatientsNeurodevelopmental disordersCaucasian datasetSignificant allelic associationAutism riskSubset of familiesAfrican AmericansGABRA4AssociationSubunit gene
2005
Identification of Significant Association and Gene-Gene Interaction of GABA Receptor Subunit Genes in Autism
Ma D, Whitehead P, Menold M, Martin E, Ashley-Koch A, Mei H, Ritchie M, DeLong G, Abramson R, Wright H, Cuccaro M, Hussman J, Gilbert J, Pericak-Vance M. Identification of Significant Association and Gene-Gene Interaction of GABA Receptor Subunit Genes in Autism. American Journal Of Human Genetics 2005, 77: 377-388. PMID: 16080114, PMCID: PMC1226204, DOI: 10.1086/433195.Peer-Reviewed Original ResearchConceptsGABA receptor subunit genesReceptor subunit genesSingle nucleotide polymorphismsGene-gene interactionsSubunit geneFamily-based association testAssociation analysisComplex gene-gene interactionsGenotype-pedigree disequilibrium testGenotypic associationDisequilibrium testSignificant genetic componentChromosome 4p12Pedigree disequilibrium testMultiple genesEpigenetic effectsSignificant genotypic associationTwo-locus modelSignificant allelic associationAllelic association analysisGenesGenetic componentLinkage testsMarker setGABRB1