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
2006
Investigation 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 ResearchConceptsSingle 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