2014
Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability
Xu F, Li L, Schulz VP, Gallagher PG, Xiang B, Zhao H, Li P. Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability. Molecular Cytogenetics 2014, 7: 4. PMID: 24410907, PMCID: PMC3905969, DOI: 10.1186/1755-8166-7-4.Peer-Reviewed Original ResearchBrain-expressed genesIngenuity Pathway AnalysisArray comparative genomic hybridizationCentral nervous system-specific genesNervous system-specific genesChromosomal imbalancesGene expression regulationSignificant gene networksTissue expression patternsOligonucleotide array comparative genomic hybridizationChromosomal structural rearrangementsExpression regulationFunctional annotationGene networksGene relationshipsEnsembl ResourcesComparative genomic hybridizationCell signalingIntegrated DiscoveryCellular assemblyBioinformatics miningSpecific genesCandidate genesExpression patternsGenomic disorders
2011
Transfusion-Dependent Alpha-Spectrin Deficient Hemolytic Anemia Due to Maternal Uniparental Disomy
Bogardus H, Schulz V, Maksimova Y, Miller B, Forget B, Gallagher P. Transfusion-Dependent Alpha-Spectrin Deficient Hemolytic Anemia Due to Maternal Uniparental Disomy. Blood 2011, 118: 1030. DOI: 10.1182/blood.v118.21.1030.1030.Peer-Reviewed Original ResearchAlpha-spectrin geneArray comparative genomic hybridizationGene locusGenomic DNANonsense mutationUniparental disomyDeleterious recessive mutationsEntire human genomeMaternal uniparental disomyCultured erythroid cellsParental genomic DNARegions of homozygosityHuman genomeSingle chromosomeComparative genomic hybridizationMolecular basisSNP dataSPTA1 geneHomozygous nonsense mutationChromosome 1Erythroid cellsGene regionPromoter regionRecessive mutationsAnemia phenotype