2024
Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages
DiAdamo A, Chai H, Chong M, Wang G, Wen J, Jiang Y, Li P. Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages. Global Medical Genetics 2024, 11: 123-131. PMID: 38560483, PMCID: PMC10980555, DOI: 10.1055/s-0044-1785227.Peer-Reviewed Original ResearchRecurrent pregnancy lossProducts of conceptionAbnormal karyotypeConsecutive miscarriagesCase seriesCytogenomic abnormalitiesCA groupCytogenomic findingsRoutine cytogenetic analysisCopy number variantsMonosomy XNormal karyotypeRetrospective studyPregnancy lossCytogenetic analysisPathogenic variantsMiscarriageSA groupAneuploidyKaryotypeLethal variantWomenAbnormalitiesGenome sequenceAbstract Background
2023
71. Integrated genomic analysis of hepatocellular carcinoma using WES and aCGH
Chong M, Chai H, Hu Q, Li P. 71. Integrated genomic analysis of hepatocellular carcinoma using WES and aCGH. Cancer Genetics 2023, 278: 22. DOI: 10.1016/j.cancergen.2023.08.079.Peer-Reviewed Original ResearchWhole-exome sequencingTumor mutation burdenHepatocellular carcinomaGrade IIICNA burdenCase seriesClinicopathologic associationsArray comparative genomic hybridizationBarcelona Clinic Liver Cancer stageCopy number alterationsBCLC stage CLiver Cancer stageEdmondson-Steiner gradingLarge case seriesGenetic defectsHigher CNA burdenAdjacent nontumor tissuesΒ-catenin pathwayIntegrated genomic analysisBetter prognosisClinicopathologic findingsPoor prognosisRetrospective studyClinicopathologic classificationCancer stage
2021
Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues
Wen J, Grommisch B, DiAdamo A, Chai H, Ng SME, Hui P, Bale A, Mak W, Wang G, Li P. Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues. Molecular Cytogenetics 2021, 14: 21. PMID: 33810806, PMCID: PMC8019165, DOI: 10.1186/s13039-021-00542-5.Peer-Reviewed Original ResearchPathogenic copy number variantsAbnormality detection rateCytogenomic abnormalitiesCulture failureNormal karyotypeHigh diagnostic yieldProducts of conceptionCell contaminationMaternal cell contaminationMolecular inversion probesFresh fetal tissuesParaffin-embedded tissuesFalse-negative resultsFetal resultsRetrospective studyPregnancy lossDiagnostic yieldClinical utilityMaternal cellsFetal tissuesAbnormalitiesNegative resultsChromosomal imbalancesChromosome abnormalitiesUnbalanced structural chromosome abnormalities