Deqiong Ma
MD, PhD, FACMG
Assistant Professor; Associate Director, DNA Diagnostic Laboratory
Research & Publications
Biography
Coauthors
Selected Publications
- Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patientsWen 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.
- ASD patients with novel variants in MBD genesCukier 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. ASD patients with novel variants in MBD genes. Autism Research 2012, 5: 385-397. PMID: 23055267, PMCID: PMC3528798, DOI: 10.1002/aur.1251.
- Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathwaysGriswold 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.
- Evidence of novel fine-scale structural variation at autism spectrum disorder candidate lociHedges 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.
- An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in malesChung 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.
- Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism RiskSalyakina 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.
- Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21Cukier 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.
- A de novo 1.5 Mb microdeletion on chromosome 14q23.2‐23.3 in a patient with autism and spherocytosisGriswold 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.
- Genetic analysis of biological pathway data through genomic randomizationYaspan 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.
- A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autismHussman 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.
- Variants in several genomic regions associated with asperger disorderSalyakina 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.
- Association and gene–gene interaction of SLC6A4 and ITGB3 in autismMa 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.
- Common genetic variants on 5p14.1 associate with autism spectrum disordersWang 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.
- A Genome‐wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1Ma 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.
- Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palateChiquet 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.
- Determinants of Skeletal Age Deviation in a Cross-Sectional StudyPowell 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.
- Investigation of potential gene–gene interactions between apoe and reln contributing to autism riskAshley-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.
- Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14Ma 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.
- Investigation of autism and GABA receptor subunit genes in multiple ethnic groupsCollins 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.
- Bone Density Interpretation and Relevance in Caucasian Children Aged 9–17 Years of Age: Insights From a Population-Based Fracture StudyJones 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.
- Extension of multifactor dimensionality reduction for identifying multilocus effects in the GAW14 simulated dataMei H, Ma D, Ashley-Koch A, Martin E. Extension of multifactor dimensionality reduction for identifying multilocus effects in the GAW14 simulated data. BMC Genomic Data 2005, 6: s145. PMID: 16451605, PMCID: PMC1866790, DOI: 10.1186/1471-2156-6-s1-s145.
- Synovial haemangioma of the knee: a case reportWinzenberg T, Ma D, Taplin P, Parker A, Jones G. Synovial haemangioma of the knee: a case report. Clinical Rheumatology 2005, 25: 753-755. PMID: 16247588, DOI: 10.1007/s10067-005-0050-z.
- Identification of Significant Association and Gene-Gene Interaction of GABA Receptor Subunit Genes in AutismMa 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.
- Ordered‐subset analysis of savant skills in autism for 15q11‐q13Ma 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.
- Skeletal age deviation assessed by the Tanner–Whitehouse 2 method is associated with bone mass and fracture risk in childrenJones 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.
- Soft Drink and Milk Consumption, Physical Activity, Bone Mass, and Upper Limb Fractures in Children: A Population-Based Case-Control StudyMa 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.
- Risk-taking, coordination and upper limb fractures in children: a population based case-control studyMa 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.
- Knee Articular Cartilage Development in Children: A Longitudinal Study of the Effect of Sex, Growth, Body Composition, and Physical ActivityJones 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.
- The Association between Bone Mineral Density, Metacarpal Morphometry, and Upper Limb Fractures in Children: A Population-Based Case-Control StudyMa 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.
- Clinical risk factors but not bone density are associated with prevalent fractures in prepubertal childrenMa 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.