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Research Associate 1 MS
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- Cytogenetics Laboratory
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Research at a Glance
Yale Co-Authors
Frequent collaborators of Hongyan Chai's published research.
Publications Timeline
A big-picture view of Hongyan Chai's research output by year.
Peining Li, PhD
Jia Di Wen, MD, PhD, FACMG
Michele Spencer-Manzon, MD
Yong-Hui Jiang, MD, PhD
Allen Bale, MD
Aron Flagg, MD
11Publications
8Citations
Publications
2026
Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature
Abdelhamed Z, Dykas D, DiAdamo A, Chai H, Ma D, Spencer-Mazon M, Jiang Y, Wen J, Bale A, Li P, Zhang H. Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature. Case Reports In Genetics 2026, 2026: 4494577. PMID: 41624216, PMCID: PMC12855162, DOI: 10.1155/crig/4494577.Peer-Reviewed Original ResearchConceptsChromosomal microarray analysisExome sequencingCompound phenotypeTrisomy 8 mosaicismPathogenic variantsPhenotypic constellationCopy number imbalancesGenomic copy number imbalancesMosaic pathogenic variantMolecular aberrationsT8MTurner syndromePathogenic gene variantsGenomic analysisConstellation of malformationsPhenotype of Turner syndromeMicroarray analysisChromosomal mosaicismPhenotypic abnormalitiesMolecular defectsGene variantsGenetic aberrationsVariable phenotypeMonosomy XTrisomy 8P618: Diagnostic findings of cytogenomic abnormalities in human sex chromosomes from postnatal consecutive cases
Wang Q, Diadamo A, Chai H, Serrano T, Bale A, Spencer-Manzon M, Jiang Y, Li P, Zhang H, Wen J. P618: Diagnostic findings of cytogenomic abnormalities in human sex chromosomes from postnatal consecutive cases. Genetics In Medicine Open 2026, 4: 104108. DOI: 10.1016/j.gimo.2026.104108.Peer-Reviewed Original Research
2025
38. Decoding the genetic complexity of B-ALL through long-read and RNA sequencing methods
Wen J, Chong M, Ng E, Chai H, Diadamo A, Flagg A, Li P. 38. Decoding the genetic complexity of B-ALL through long-read and RNA sequencing methods. Cancer Genetics 2025, 298: s17-s18. DOI: 10.1016/j.cancergen.2025.10.042.Peer-Reviewed Original ResearchConceptsLong-read sequencingB-cell acute lymphoblastic leukemiaFluorescence in situ hybridizationNUP214-ABL1Children's Oncology GroupStructural variantsGenetic complexityGene fusionsComplex genomic rearrangementsGenome-wide analysisRNA sequencing methodsConventional cytogenetic analysisComplex genomic landscapeDiagnosis of B-lymphoblastic leukemiaNUP214-ABL1 fusionTyrosine kinase inhibitor therapyLong readsGenomic rearrangementsKinase inhibitor therapyPediatric B-ALL casesB-ALL patientsCryptic rearrangementsB-lymphoblastic leukemiaB-ALL casesSequencing approachDecoding the genetic complexity in a pediatric case of B-ALL through long-read genomic sequencing and RNA sequencing
Chong M, Ng S, Chai H, Diadamo A, Flagg A, Owen N, Li P, Wen J. Decoding the genetic complexity in a pediatric case of B-ALL through long-read genomic sequencing and RNA sequencing. Cancer Genetics 2025, 298: 274-279. PMID: 41232304, PMCID: PMC12666982, DOI: 10.1016/j.cancergen.2025.11.002.Peer-Reviewed Original ResearchMeSH Keywords and ConceptsConceptsLong-read genome sequencingB-cell acute lymphoblastic leukemiaGenome sequenceRNA sequencingTyrosine kinase inhibitorsGenetic alterationsCopy number aberrationsChromosomal microarray analysisPediatric casesHigh-risk B-cell acute lymphoblastic leukemiaCases of B-cell acute lymphoblastic leukemiaTCRB locusOncogenic gene fusionsSequencing approachClinically actionable targetsGenetic complexityABL1 genePartial deletionCytogenetic methodsGene fusionsAcute lymphoblastic leukemiaMicroarray analysisHeterogeneous hematologic malignancyABL1 fusionsSequenceLoss of D expression associated with hematologic disease progression: a case report and review of the literature
Yurtsever N, Carmichael G, Li P, Di Wen J, Chai H, Diadamo A, Denomme G, Tormey C. Loss of D expression associated with hematologic disease progression: a case report and review of the literature. Immunohematology 2025, 41: 80-83. PMID: 41168989, DOI: 10.2478/immunohematology-2025-012.Peer-Reviewed Original ResearchMeSH Keywords and ConceptsConceptsStem cell transplantationPatient's red blood cellsMyelodysplastic syndromeCell transplantationRed blood cellsPolymerase chain reactionPre-B acute lymphocytic leukemiaColon cancerGroup AAllogeneic stem cell transplantationHigh-risk myelodysplastic syndromeInitiation of immunosuppressive therapyDiagnosis of myelodysplastic syndromeChromosomal microarrayAcute lymphocytic leukemiaSanger sequencingFemale cellsPartial D variantsGene expressionImmunosuppressive therapyLymphocytic leukemiaD phenotypeMale patientsCase reportAnti-D reagentsCopy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing
Li W, Xie X, Chai H, DiAdamo A, Bistline E, Li P, Dai Y, Knight J, Avni-Singer A, Burger J, Ment L, Spencer-Manzon M, Zhang H, Wen J. Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing. Genes 2025, 16: 874. PMID: 40869922, PMCID: PMC12385847, DOI: 10.3390/genes16080874.Peer-Reviewed Original ResearchCitationsMeSH Keywords and ConceptsConceptsWhole-genome sequencingChromosomal microarray analysisCopy number variantsGenome sequenceMicroarray analysisCausative genetic variantsDiagnostic valueClinical cytogenetics laboratoryPediatric casesConsecutive pediatric casesConsecutive pediatric patientsPathogenic CNVsGenetic variantsBenign CNVsGenetic counselorsClinical geneticistsRate of reclassificationLaboratory reevaluationCytogenetic laboratoriesPediatric patientsChromosomeClinical impactSequenceVariantsCopyP685: A single-center reevaluation and reanalysis of copy number variants of uncertain significance detected by chromosome microarray from consecutive pediatric patients
Li W, Chai H, Diadamo A, Dai Y, Li P, Spencer-Manzon M, Zhang H, Wen J. P685: A single-center reevaluation and reanalysis of copy number variants of uncertain significance detected by chromosome microarray from consecutive pediatric patients. Genetics In Medicine Open 2025, 3: 103054. DOI: 10.1016/j.gimo.2025.103054.Peer-Reviewed Original Research
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 ResearchCitationsConceptsRecurrent pregnancy lossProducts of conceptionAbnormal karyotypeConsecutive miscarriagesCase seriesCytogenomic abnormalitiesCA groupCytogenomic findingsRoutine cytogenetic analysisCopy number variantsMonosomy XNormal karyotypeRetrospective studyPregnancy lossCytogenetic analysisPathogenic variantsMiscarriageSA groupAneuploidyKaryotypeLethal variantWomenAbnormalitiesGenome sequenceAbstract BackgroundRing Chromosome 21
Zhang H, Chai H. Ring Chromosome 21. 2024, 287-300. DOI: 10.1007/978-3-031-47530-6_25.Peer-Reviewed Original ResearchCitationsConceptsChromosomal microarray analysisCongenital anomaliesAcute leukemiaFluorescence in situ hybridizationTreatment of congenital anomaliesIncreased risk of miscarriageMultiple congenital anomaliesRisk of miscarriageBone marrow cellsEvaluation of infertilityAdult male patientsAdult female patientsRing chromosome 21Chromosome 21Spectrum of phenotypesGenomic imbalancesCraniofacial dysmorphismFemale patientsMale patientsMarrow cellsChromosome analysisClinical managementIncreased riskDevelopmental delayPatientsCopy number variation of metallothionein 1 (MT1) associates with MT1X isoform expression and the overall survival of hepatocellular carcinoma patients in Guangxi
Xu P, Al-Anesi M, Huang M, Wu S, Ge Y, Chai H, Li P, Hu Q. Copy number variation of metallothionein 1 (MT1) associates with MT1X isoform expression and the overall survival of hepatocellular carcinoma patients in Guangxi. Gene Reports 2024, 34: 101889. DOI: 10.1016/j.genrep.2024.101889.Peer-Reviewed Original ResearchCitationsConceptsHepatocellular carcinoma patientsOverall survivalHepatocellular carcinoma diagnosisCopy number variationsHepatocellular carcinomaCancer tissuesDown-regulationMetallothionein-1Survival of hepatocellular carcinoma patientsEffects of copy number variationPredictors of OSOverall survival of hepatocellular carcinoma patientsMetallothionein-1 geneMetallothionein-1 proteinSimultaneous down-regulationCarcinoma patientsACGH analysisTumor-suppressive effectsNumber variationsIsoform expressionTranslational levelPatientsCancerResults of RT-qPCRGenes
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