Jia Di Wen, MD, PhD, FACMG
Assistant Professor of GeneticsCards
About
Research
Publications
2026
Acquired ring chromosomes in hematological malignancies: A systematic evidence review for diagnostic advances, cytogenomic insights, and clinical significance by an International Consortium on Human Ring Chromosomes (ICHRC) working group
Zeineldin M, Murry J, Shetty D, Middlezong W, Parish R, Xiao Z, Cui C, Li P, Wen J, Tang G, Zou Y. Acquired ring chromosomes in hematological malignancies: A systematic evidence review for diagnostic advances, cytogenomic insights, and clinical significance by an International Consortium on Human Ring Chromosomes (ICHRC) working group. Cancer Genetics 2026, 306: 69-90. PMID: 42263477, DOI: 10.1016/j.cancergen.2026.05.009.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConcomitant 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 Research
2025
Unravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing
Chong M, Burssed B, Zhao C, 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, 4: 103475. PMID: 42206203, PMCID: PMC13207348, DOI: 10.1016/j.gimo.2025.103475.Peer-Reviewed Original ResearchDecoding 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 ResearchLoss 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 StatementsCopy 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 ResearchA Concordance Study Among 26 NGS Laboratories Participating in the National Cancer Institute-Molecular Analysis for Therapy Choice (NCI-MATCH) Clinical Trial
Zane L, Yee L, Chang T, Sklar J, Yang G, Di 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 National Cancer Institute-Molecular Analysis for Therapy Choice (NCI-MATCH) Clinical Trial. Clinical Cancer Research 2025, 31: 3512-3525. PMID: 40465838, PMCID: PMC12284871, DOI: 10.1158/1078-0432.ccr-24-2188.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 ResearchRing 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 Research
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