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 stageIntegrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma
Chong M, Knight J, Peng G, Ji W, Chai H, Lu Y, Wu S, Li P, Hu Q. Integrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma. Cancer Genetics 2023, 276: 30-35. PMID: 37418972, DOI: 10.1016/j.cancergen.2023.06.002.Peer-Reviewed Original ResearchConceptsTumor mutation burdenWhole-exome sequencingGrade IIIHepatocellular carcinomaCNA burdenCase seriesBarcelona Clinic Liver Cancer stageExome sequencingBCLC stage CLiver Cancer stageEdmondson-Steiner gradingLarge case seriesGenetic defectsHigher CNA burdenAdjacent nontumor tissuesΒ-catenin pathwayBetter prognosisClinicopathologic findingsPoor prognosisClinicopathologic classificationCancer stageSurvival statusMutation burdenStage CPrognostic prediction
2017
De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome
Wang Q, Geng Q, Zhou Q, Luo F, Li P, Xie J. De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome. Molecular Cytogenetics 2017, 10: 46. PMID: 29270226, PMCID: PMC5738159, DOI: 10.1186/s13039-017-0347-z.Peer-Reviewed Original ResearchBeckwith-Wiedemann syndromeMethylation profilingGenome-wide copy number analysisGain of methylationAberrant methylation patternsIntegrated molecular approachSingle gene mutationsCopy number analysisSegmental uniparental disomyMethylation patternsGenetic mechanismsChromosome 11p15.5Genetic analysisTelomeric endMicroarray analysisMolecular approachesMolecular etiologyDuplicationBWS patientsNumber changesUniparental disomyGenetic defectsChromosome microarray analysisNumber analysisPaternal origin
2016
Recurrent genetic defects in classical Hodgkin lymphoma cell lines
Hudnall SD, Meng H, Lozovatsky L, Li P, Strout M, Kleinstein SH. Recurrent genetic defects in classical Hodgkin lymphoma cell lines. Leukemia & Lymphoma 2016, 57: 2890-2900. PMID: 27121023, DOI: 10.1080/10428194.2016.1177179.Peer-Reviewed Original ResearchConceptsMitosis-related genesSingle nucleotide variantsCHL cell linesCell linesRecurrent genetic defectsPathogenic single nucleotide variantsHL cell linesMitotic genesChromosome duplicationClassical Hodgkin lymphoma cell linesGenomic instabilityGenetic analysisWhole-exome sequencingNucleotide variantsGenesHodgkin's lymphoma cell linesLymphoma cell linesNumber variantsKaryotypic analysisGenetic defectsWealth of informationPoor growthVariantsDuplicationLines
1996
Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation
Li P, Thompson J, Hug G, Huffman P, Chuck G. Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation. American Journal Of Medical Genetics 1996, 64: 531-535. PMID: 8870917, DOI: 10.1002/(sici)1096-8628(19960906)64:4<531::aid-ajmg1>3.0.co;2-s.Peer-Reviewed Original ResearchConceptsBone marrow transplantationHunter syndromeMarrow transplantationLeukocyte DNAUrinary glycosaminoglycan excretionAge 2 yearsAge 5 yearsPolymerase chain reaction sequencingCultured skin fibroblastsGlycosaminoglycan excretionPrimary genetic defectMetabolic effectsUrinary glycosaminoglycansSevere formSyndromeSevere disease-causing mutationsLiver homogenatesNovel nonsense mutationMolecular analysisSkin fibroblastsDisease-causing mutationsReaction sequencingGenetic defectsPatientsTransplantation