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
2009
Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature
Rossi MR, DiMaio MS, Xiang B, Lu K, Kaymakcalan H, Seashore M, Mahoney MJ, Li P. Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature. American Journal Of Medical Genetics Part A 2009, 149A: 2788-2794. PMID: 19921640, PMCID: PMC2788106, DOI: 10.1002/ajmg.a.33088.Peer-Reviewed Original ResearchConceptsPierre Robin sequenceRobin sequenceVariable clinical presentationFurther genotype-phenotype correlationsMb deletionGenotype-phenotype correlationSecond patientClinical presentationCardiac anomaliesNewborn periodArray comparative genomic hybridization analysisComparative genomic hybridization analysisCardiac abnormalitiesPaternal genetic factorsGenomic hybridization analysisFamilial variantPatientsPregnant femalesGenetic factorsDistal duplicationVariable expressionVariable expressivityDistal long armGenomic findingsDisability