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.
Alexander Abrams
Former YSMAllen Bale, MD
Chen Zhao, PhD, FACMG
Jia Di Wen, MD, PhD, FACMG
Michele Spencer-Manzon, MD
Yong-Hui Jiang, MD, PhD
31Publications
3,347Citations
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 ResearchCitations
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 ResearchCitationsAltmetricEvidence 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 ResearchCitationsAltmetric
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 ResearchCitationsAltmetricCopy 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 KeywordsAdolescentAllelesAutistic DisorderChromosome DeletionChromosomes, Human, Pair 14ComorbidityDNA Copy Number VariationsGene FrequencyGenetic Association StudiesGenotypeHumansIntellectual DisabilityLearning DisabilitiesMaleMethylenetetrahydrofolate Dehydrogenase (NADP)Minor Histocompatibility AntigensPedigreePhenotypePolymorphism, Single NucleotideSpherocytosis, HereditaryGenetic 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 ResearchCitationsA 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 ResearchCitationsAltmetric
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