Jia Di Wen, MD, PhD, FACMG
Assistant Professor of GeneticsCards
About
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 8Unravelling 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 2026, 4: 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 instabilitySequenceGenomeChromosome
2025
Decoding 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 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 Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsStem 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 samplesSNVs
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 BackgroundRing Chromosome 12
Taylor H, Wen J. Ring Chromosome 12. 2024, 191-199. DOI: 10.1007/978-3-031-47530-6_16.Peer-Reviewed Original ResearchRing Chromosome 19
Wen J, Chong M. Ring Chromosome 19. 2024, 271-278. DOI: 10.1007/978-3-031-47530-6_23.Peer-Reviewed Original ResearchPercentage of mosaicismRare chromosomal aberrationGenotype-phenotype correlationSeverity of clinical featuresGenomic investigationsChromosome 19Genetic imbalanceVariable clinical manifestationsRare genetic abnormalitySurvive into adulthoodCarrier parentsSevere phenotypeClinical featuresLaboratory findingsInherited casesClinical manifestationsGenetic abnormalitiesChromosomal aberrationsClinical implicationsMosaicismFamilial transmissionPhenotypeComprehensive understandingIntellectual disabilityPatientsAcquired Ring Chromosomes in Solid Tumors
Wen J, Chong M. Acquired Ring Chromosomes in Solid Tumors. 2024, 475-490. DOI: 10.1007/978-3-031-47530-6_32.ChaptersPrevalence of ARCHuman solid tumorsSolid tumorsTumor typesRing chromosomesManagement of solid tumorsSoft tissue tumorsTumor suppressor geneTumor siteMalignant cellsTissue tumorsMitelman databaseChromosome analysisTumorTumor formationTreatment managementQuality of bandingMolecular consequencesSecondary findingsGene fusionsPrevalence
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