Jia Di Wen, MD, PhD, FACMG
Assistant Professor of GeneticsCards
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Research
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 ResearchChromosomal 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 ResearchLong-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 ResearchConceptsLong-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 fusionsSequencePrognostic impact of cytogenetic abnormalities in aggressive T-cell lymphomas: Defining high-risk subgroups through conventional karyotyping.
Kiwan A, Diadamo A, Wen J, Kewan T, Siddon A, Kothari S, Isufi I, Seropian S, Huntington S, Montanari F, Xu M, Li P, Girardi M, Sethi T, Foss F. Prognostic impact of cytogenetic abnormalities in aggressive T-cell lymphomas: Defining high-risk subgroups through conventional karyotyping. Blood 2025, 146: 1759-1759. DOI: 10.1182/blood-2025-1759.Peer-Reviewed Original ResearchT-cell lymphomaMature T-cell lymphomasAggressive T-cell lymphomaUnivariate Cox proportional hazardsMonosomy 9Overall survivalPeripheral bloodMonosomy 5Nodal PTCLBone marrowHigh-risk subgroupsPrognostic significancePlatelet countCox proportional hazardsCytogenetic abnormalitiesPrognostic impactComplex karyotypeT cellsMarker chromosomesPrognostic impact of cytogenetic abnormalitiesPredictor of poor OSImpact of cytogenetic abnormalitiesMultivariate CPH modelChromosomal lesionsPresence of marker chromosomesUnravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing
Chong M, Burssed B, Chen Z, Wen J, Ng E, Szewczyk B, Wang G, Chua K, Liehr T, Zou Y, Murry J, Sheth F, Li P, Melaragno M. Unravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing. Genetics In Medicine Open 2025, 103475. DOI: 10.1016/j.gimo.2025.103475.Peer-Reviewed Original ResearchLong-read genome sequencingShort-read genome sequencingMicrohomology-mediated break-induced replicationCopy number variantsMicrohomology-mediated end joiningNon-Homologous End JoiningGenome sequenceRing chromosomesEnd joiningTelomere-to-telomereNucleotide-level resolutionSingle-copy sequencesBreak-induced replicationLoss of euchromatinReference genomeShort readsGenomic rearrangementsRepetitive sequencesTelomeric regionsChromosome structureCell cycleChromosomal instabilitySequenceGenomeChromosomeLoss 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 ResearchConceptsStem 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 ResearchConceptsWhole-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 impactSequenceVariantsCopyA Concordance Study among 26 NGS Laboratories Participating in the NCI Molecular Analysis for Therapy Choice Clinical Trial.
Zane L, Yee L, Chang T, Sklar J, Yang G, Wen J, Li P, Harrington R, Sims D, Harper K, Trent J, LoBello J, Szelinger S, Benson K, Zeng J, Poorman K, Xu D, Frampton G, Pavlick D, Miller V, Tandon B, Swat W, Weiss L, Funari V, Conroy J, Prescott J, Chandra P, Ma C, Champion K, Baschkopf G, Fesko Y, Freitas T, Tomlins S, Hovelson D, White K, Sorrells S, Tell R, Beaubier N, King D, Li L, Kelly K, Uvalic J, Meyers B, Kolhe R, Lindeman N, Baltay M, Sholl L, Lopategui J, Vail E, Zhang W, Telatar M, Afkhami M, Hsiao S, Mansukhani M, Adams E, Jiang L, Aldape K, Raffeld M, Xi L, Stehr H, Segal J, Aisner D, Davies K, Brown N, Livingston R, Konnick E, Song W, Solomon J, Walther Z, McShane L, Harris L, Chen A, Tsongalis G, Hamilton S, Flaherty K, O'Dwyer P, Conley B, Patton D, Iafrate A, Williams P, Tricoli J, Karlovich C. A Concordance Study among 26 NGS Laboratories Participating in the NCI Molecular Analysis for Therapy Choice Clinical Trial. Clinical Cancer Research 2025, 31: 3512-3525. PMID: 40465838, PMCID: PMC12284871, DOI: 10.1158/1078-0432.ccr-24-2188.Peer-Reviewed Original ResearchVariant detectionVariant reportingEstimates of copy numberTarget enrichment methodLow-complexity regionsCentral laboratoryNational Cancer Institute-Molecular AnalysisNCI-MATCH trialVariant interpretationVariant classesCopy numberBioinformatics analysisCNV reporterNGS assayCLIA-certified laboratoryEnrichment methodNGSHybridization captureIndelsNCI-MATCHTumor profiling testsCell linesTherapy choiceClinical samplesSNVsP685: 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
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