2012
Technology-Driven and Evidence-Based Genomic Analysis for Integrated Pediatric and Prenatal Genetics Evaluation
Wei Y, Xu F, Li P. Technology-Driven and Evidence-Based Genomic Analysis for Integrated Pediatric and Prenatal Genetics Evaluation. Journal Of Genetics And Genomics 2012, 40: 1-14. PMID: 23357340, DOI: 10.1016/j.jgg.2012.12.004.Peer-Reviewed Original ResearchConceptsMultiple congenital anomaliesArray comparative genomic hybridizationEvidence-based practice guidelinesPatient-control studyPrenatal genetic evaluationAutistic spectrum disorderRational therapeutic interventionsNormal cytogenetic findingsMulti-centre comparisonImmediate clinical applicationPediatric patientsCase seriesPediatric experienceCongenital anomaliesPractice guidelinesDiagnostic yieldClinical validityTherapeutic interventionsCytogenetic findingsAbnormalitiesComparative genomic hybridizationDisease-causing mechanismsIntellectual disabilityStructural anomalies
2011
Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia
Bajaj R, Xu F, Xiang B, Wilcox K, DiAdamo AJ, Kumar R, Pietraszkiewicz A, Halene S, Li P. Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia. Molecular Cytogenetics 2011, 4: 3. PMID: 21251322, PMCID: PMC3031273, DOI: 10.1186/1755-8166-4-3.Peer-Reviewed Original ResearchArray comparative genomic hybridizationCopy number alterationsAcute myeloid leukemiaClonal chromosomal abnormalitiesOligonucleotide array comparative genomic hybridizationGene contentBAC clonesEvidence-based approachComparative genomic hybridizationElderly patientsGenomic analysisGenomic contentDerivative chromosome 6Genomic featuresIsodicentric X chromosomeMyelodysplastic syndromeX chromosomeMyeloid leukemiaConclusionsOur dataCytogenomic analysisChromosome 6Clinical validitySegmental amplificationMYC geneClonal abnormalities