Jia Di Wen, MD, PhD, FACMG
Assistant ProfessorCards
About
Research
Publications
2025
Copy 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
2024
Ring 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.Peer-Reviewed Original ResearchPrevalence 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 fusionsPrevalencePatterns 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
Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses
Peng G, Zhou Q, Chai H, Wen J, Zhao H, Taylor H, Jiang Y, Li P. Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses. Molecular Genetics & Genomic Medicine 2023, 11: e2181. PMID: 37013615, PMCID: PMC10422064, DOI: 10.1002/mgg3.2181.Peer-Reviewed Original ResearchConceptsGenomic disordersChromosome microarray analysisWilliams-Beuren syndromePathogenic copy number variantsPopulation genetic studiesWolf-Hirschhorn syndromeCopy number variantsDiGeorge syndromeMicroarray analysisMicroarray resultsChromosomal abnormalitiesGenetic studiesNumber variantsGenetic counseling
2022
Genotype–Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature
Xie X, Chai H, DiAdamo A, Grommisch B, Wen J, Zhang H, Li P. Genotype–Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature. Global Medical Genetics 2022, 09: 166-174. PMID: 35707784, PMCID: PMC9192176, DOI: 10.1055/s-0042-1743568.Peer-Reviewed Original ResearchGenotype-phenotype correlationBrain abnormalitiesAnti-epilepsy treatmentCommon clinical findingVariable clinical featuresEarly-onset Parkinson's diseaseTerminal deletion syndromePathogenic copy number variantsReview of literatureAdult patientsClinical featuresClinical findingsClinical managementParkinson's diseasePatientsDistal critical regionSystematic reviewUnrelated patientsDevelopmental delayParental studiesFacial dysmorphismDeletion syndromeGenetic counselingIntellectual disabilitySeizuresDetecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients
Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer‐Manzon M, Jiang Y, McGrath J, Li P, Bale A, Zhang H. Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients. American Journal Of Medical Genetics Part A 2022, 188: 1728-1738. PMID: 35199448, DOI: 10.1002/ajmg.a.62693.Peer-Reviewed Original ResearchConceptsPediatric patientsWhole-exome sequencingCase seriesAR diseasesPathogenic variantsLarge consecutive case seriesConsecutive case seriesLarge case seriesUniparental disomyLikely pathogenic variantsRegions of homozygosityChromosomal microarray analysisAutosomal recessive diseasePrader-Willi syndromeDiagnostic findingsDiagnostic yieldPatientsPredictive valueGenetic testingHomozygous variantDiseaseExome sequencingRecessive diseaseGenetic counselingStrongest predictor
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