2019
Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities
Chai H, DiAdamo A, Grommisch B, Boyle J, Amato K, Wang D, Wen J, Li P. Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities. Medical Sciences 2019, 7: 16. PMID: 30678103, PMCID: PMC6410168, DOI: 10.3390/medsci7020016.Peer-Reviewed Original ResearchArray comparative genomic hybridizationPathogenic copy number variantsMosaic patternStructural chromosomal rearrangementsChromosomal structural rearrangementsCopy number variantsComparative genomic hybridizationChromosomal rearrangementsGenomic imbalancesCommon aneuploidiesNumber variantsCellular proliferationIntegrated fishGenomic hybridizationFishSitu hybridizationStructural rearrangementsReflex FISHStructural chromosomal abnormalitiesSex chromosome aneuploidyACGH analysisChromosome aneuploidyAneuploidyCell culturesHybridization
2016
Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples
Zhou Q, Wu SY, Amato K, DiAdamo A, Li P. Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples. Journal Of Genetics And Genomics 2016, 43: 121-131. PMID: 27020032, DOI: 10.1016/j.jgg.2016.02.002.Peer-Reviewed Original ResearchConceptsCopy number variantsIngenuity Pathway AnalysisPathogenic copy number variantsDosage-sensitive genesCell proliferation pathwaysGenomic copy number variantsArray comparative genomic hybridizationGene networksComparative genomic hybridization analysisComparative genomic hybridizationPathway analysisGenomic hybridization analysisChromosomal abnormalitiesHybridization analysisProliferation pathwaysArray comparative genomic hybridization analysisNumber variantsGenomic hybridizationSitu hybridizationGenesHybridizationCytogenomic abnormalitiesCulture successPolyploidySensitive mechanism
2014
Recurrent chromosomal aberrations in intravenous leiomyomatosis of the uterus: high-resolution array comparative genomic hybridization study
Buza N, Xu F, Wu W, Carr RJ, Li P, Hui P. Recurrent chromosomal aberrations in intravenous leiomyomatosis of the uterus: high-resolution array comparative genomic hybridization study. Human Pathology 2014, 45: 1885-1892. PMID: 25033729, DOI: 10.1016/j.humpath.2014.05.010.Peer-Reviewed Original ResearchConceptsOligonucleotide array comparative genomic hybridizationArray comparative genomic hybridizationComparative genomic hybridizationGenome-wide investigationGenomic hybridizationChromosome 22qCopy number lossGene mappingChromosomal aberrationsComparative genomic hybridization studySuccinate dehydrogenase subunit BGenetic instabilityRecurrent chromosomal aberrationsRegions of lossSequencing analysisChromosome 12qNumber lossNumber variantsSubunit BChromosomal alterationsHybridization studies
2010
Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation A Multicenter Experience of 1499 Clinical Cases
Xiang B, Zhu H, Shen Y, Miller DT, Lu K, Hu X, Andersson HC, Narumanchi TM, Wang Y, Martinez JE, Wu BL, Li P, Li MM, Chen TJ, Fan YS. Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation A Multicenter Experience of 1499 Clinical Cases. Journal Of Molecular Diagnostics 2010, 12: 204-212. PMID: 20093387, PMCID: PMC2871727, DOI: 10.2353/jmoldx.2010.090115.Peer-Reviewed Original ResearchConceptsClinical useCopy number changesMental retardationMulticenter experienceProband patientEtiological diagnosisDiagnostic yieldClinical utilityCommon microdeletion syndromeClinical relevanceClinical casesArray comparative genomic hybridizationPathogenic copy number changesComparative genomic hybridizationMicrodeletion syndromeDiagnostic laboratoriesFurther investigationDiagnosisOligonucleotide array comparative genomic hybridizationAbnormal casesGenomic imbalancesGenomic hybridization
2008
Analytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay
Xiang B, Li A, Valentin D, Nowak NJ, Zhao H, Li P. Analytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. American Journal Of Medical Genetics Part A 2008, 146A: 1942-1954. PMID: 18627053, DOI: 10.1002/ajmg.a.32411.Peer-Reviewed Original ResearchMeSH KeywordsChildChromosome DeletionChromosomes, Artificial, BacterialDevelopmental DisabilitiesFemaleGene DuplicationGenome, HumanHumansIn Situ Hybridization, FluorescenceIntellectual DisabilityKaryotypingMaleMosaicismOligonucleotide Array Sequence AnalysisPilot ProjectsROC CurveSensitivity and SpecificityConceptsOligonucleotide array comparative genomic hybridizationArray comparative genomic hybridizationComparative genomic hybridizationGenomic hybridizationMosaic patternGenomic contentPolymorphic inversionsFemale DNAGenomic disordersGenomic variantsOligonucleotide arraysChromosomesGenomic aberrationsFISH analysisChromosomal abnormalitiesDifferent chromosomal abnormalitiesSitu hybridizationRobertsonian translocationsMarker chromosomesDeletionDNA mixturesHybridizationMental retardationDuplicationDNADouble-minute MYC amplification and deletion of MTAP, CDKN2A, CDKN2B, and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridization
Kamath A, Tara H, Xiang B, Bajaj R, He W, Li P. Double-minute MYC amplification and deletion of MTAP, CDKN2A, CDKN2B, and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridization. Cancer Genetics 2008, 183: 117-120. PMID: 18503831, DOI: 10.1016/j.cancergencyto.2008.02.011.Peer-Reviewed Original ResearchConceptsOligonucleotide array comparative genomic hybridizationComparative genomic hybridizationBacterial artificial chromosome clone probesGenomic imbalancesGenomic hybridizationDouble minutesPVT1 geneChromosomal observationsChromosome XDeletionSitu hybridizationRecurrent chromosomal abnormalitiesGenomic findingsGenesHybridizationMYC probeCDKN2BChromosome analysisCDKN2AMTAPChromosomal abnormalitiesChromosomal analysisELAVL2TRIB1MYC