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
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 ResearchConceptsSingle 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
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 Research