Deqiong Ma, MD, PhD, FACMG
Assistant Professor of Genetics; Associate Director; DNA Diagnostic LaboratoryDownloadHi-Res Photo
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Appointments
Genetics
Primary
Additional Titles
Associate Director, DNA Diagnostic Laboratory
Contact Info
Yale School of Medicine
DNA Diagnostic Lab
New Haven, CT 06510
United States
Appointments
Genetics
Primary
Additional Titles
Associate Director, DNA Diagnostic Laboratory
Contact Info
Yale School of Medicine
DNA Diagnostic Lab
New Haven, CT 06510
United States
Appointments
Genetics
Primary
Additional Titles
Associate Director, DNA Diagnostic Laboratory
Contact Info
Yale School of Medicine
DNA Diagnostic Lab
New Haven, CT 06510
United States
About
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Titles
Assistant Professor of Genetics; Associate Director; DNA Diagnostic Laboratory
Associate Director, DNA Diagnostic Laboratory
Appointments
Education & Training
- Clinical Fellow
- Albert Einstein College of Medicine (2015)
- Postdoc Fellow
- Duke University (2007)
- PhD
- University of Tasmania (2003)
- MD
- Tongji Medical University (1991)
Research
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Research at a Glance
Yale Co-Authors
Frequent collaborators of Deqiong Ma's published research.
Publications Timeline
A big-picture view of Deqiong Ma's research output by year.
Allen Bale, MD
Chen Zhao, PhD, FACMG
Jia Di Wen, MD, PhD, FACMG
Michele Spencer-Manzon, MD
Yong-Hui Jiang, MD, PhD
31Publications
3,292Citations
Publications
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 ResearchCitationsMeSH Keywords and ConceptsConceptsPediatric 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 ResearchCitationsAltmetricMeSH KeywordsEvaluation 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 ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsCandidate 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 deletionsEvidence of novel fine-scale structural variation at autism spectrum disorder candidate loci
Hedges D, Hamilton-Nelson K, Sacharow S, Nations L, Beecham G, Kozhekbaeva Z, Butler B, Cukier H, Whitehead P, Ma D, Jaworski J, Nathanson L, Lee J, Hauser S, Oksenberg J, Cuccaro M, Haines J, Gilbert J, Pericak-Vance M. Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci. Molecular Autism 2012, 3: 2. PMID: 22472195, PMCID: PMC3352055, DOI: 10.1186/2040-2392-3-2.Peer-Reviewed Original ResearchCitationsAltmetricConceptsGamma-aminobutyric acidGABA receptorsControl individualsGABA receptor expressionMajor inhibitory neurotransmitterCommon insertion/deletion polymorphismInsertion/deletion polymorphismQuantitative PCRGABAergic systemInhibitory neurotransmitterReceptor expressionUnaffected family membersBehavioral impairmentsEtiology of autismAutistic patientsComparative genomic hybridization arrayBackgroundAutism spectrum disorderConclusionsThese results
2011
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males
Chung R, Ma D, Wang K, Hedges D, Jaworski J, Gilbert J, Cuccaro M, Wright H, Abramson R, Konidari I, Whitehead P, Schellenberg G, Hakonarson H, Haines J, Pericak-Vance M, Martin E. An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males. Molecular Autism 2011, 2: 18. PMID: 22050706, PMCID: PMC3305893, DOI: 10.1186/2040-2392-2-18.Peer-Reviewed Original ResearchCitationsAltmetricConceptsX chromosome-wide association studyX chromosomeGenome-wide association study dataCase-control data setsAutism spectrum disorder (ASD) candidate geneChromosome-wide significanceGWAS data setsAssociation study dataReplication analysisDiscovery data setFamily data setsStrong genetic componentSame geneCandidate genesTransducin βAssociation studiesGenesXp22.3 regionLinkage disequilibriumGenetic componentSusceptibility genesAutism familiesSkewed prevalenceSNPsReplication thresholdCopy 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 ResearchCitationsAltmetricMicroduplications 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 ResearchCitationsAltmetricA 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 ResearchCitationsAltmetricMeSH Keywords and ConceptsMeSH 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 ResearchCitationsMeSH Keywords and ConceptsConceptsGenome-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 effectA noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism
Hussman J, Chung R, Griswold A, Jaworski J, Salyakina D, Ma D, Konidari I, Whitehead P, Vance J, Martin E, Cuccaro M, Gilbert J, Haines J, Pericak-Vance M. A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism. Molecular Autism 2011, 2: 1. PMID: 21247446, PMCID: PMC3035032, DOI: 10.1186/2040-2392-2-1.Peer-Reviewed Original ResearchCitationsAltmetricConcepts
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Yale School of Medicine
DNA Diagnostic Lab
New Haven, CT 06510
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