2011
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE
Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Human Molecular Genetics 2011, 20: 4360-4370. PMID: 21865298, PMCID: PMC3196886, DOI: 10.1093/hmg/ddr363.Peer-Reviewed Original ResearchConceptsCopy number variantsSingle protein-coding geneProtein-coding genesNumber variantsSingle nucleotide polymorphism arrayArray comparative genomic hybridizationExonic copy number variantsSmall copy number variantsComparative genomic hybridizationFirst enzymeUnique exonsX chromosomeRefSeq genesGenomic variantsHeterogeneous genetic etiologyOligonucleotide arraysPolymorphism arrayIndividual B cellsClonal outgrowthAutism familiesExonic deletionsGenomic hybridizationSimons Simplex CollectionHemizygous deletionSomatic mutations
2005
Rapid array‐based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23)
Drazinic CM, Ercan‐Sencicek A, Gault LM, Hisama FM, Qumsiyeh MB, Nowak NJ, Cubells JF, State MW. Rapid array‐based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23). American Journal Of Medical Genetics Part A 2005, 134A: 282-289. PMID: 15754353, DOI: 10.1002/ajmg.a.30616.Peer-Reviewed Original ResearchMeSH KeywordsChromosome BandingChromosomes, Artificial, BacterialChromosomes, Human, Pair 18Chromosomes, Human, Pair 5FemaleHumansIn Situ Hybridization, FluorescenceKaryotypingMagnetic Resonance ImagingMiddle AgedNucleic Acid HybridizationPolymorphism, Single NucleotidePsychotic DisordersTranslocation, GeneticConceptsBacterial artificial chromosomeChromosome 18Molecular cytogenetic mappingSingle nucleotide polymorphism arrayArray-based copy number analysisCytogenetic mappingNucleotide polymorphism arrayCopy number analysisArray-based methodsSubtle chromosomal abnormalitiesSNP chipArtificial chromosomesChromosomal intervalChromosomal rearrangementsDerivative chromosome 18Array findingsSNP arrayGenomic characterizationLinkage analysisArray-based experimentsPolymorphism array