Publications
Updated September 2025
2025
Chakraborty S, Bickford M, Smuliac N, et al. IGL::CCND1 detected by optical genome mapping revises diagnosis of a B-cell lymphoma. American Journal of Clinical Pathology. 2025 Sep 10:aqaf096. doi: 10.1093/ajcp/aqaf096. Epub ahead of print. PMID: 40926533.
https://pubmed.ncbi.nlm.nih.gov/40926533/
Kamaso J, García-Serra R, Munné M, et al. Integrating Optical Genome Mapping With TP53 FISH: A Synergistic Approach for Cytogenomic Analysis in Chronic Lymphocytic Leukemia. American Journal of Hematology. 2025 Jul;100(7):1242-1245. doi: 10.1002/ajh.27690
https://pubmed.ncbi.nlm.nih.gov/40277095/
Kanagal-Shamanna R, Puiggros A, Granada I, et al. Integration of Optical Genome Mapping in the Cytogenomic and Molecular Work-Up of Hematological Malignancies: Expert Recommendations From the International Consortium for Optical Genome Mapping. American Journal of Hematology. 2025 Jun;100(6):1029-1048. doi: 10.1002/ajh.27688
https://pubmed.ncbi.nlm.nih.gov/40304265/
Sathyanarayana S, Bickford M, Smuliac N, et al. Complex genetic structural aberrations revealed by optical genome mapping in a case of APL-like morphology. Cancer Genetics. 2025 Apr;292-293:111-115. doi: 10.1016/j.cancergen.2025.02.005.
https://pubmed.ncbi.nlm.nih.gov/39999580/
2024
Budurlean L, Tukaramrao D, Zhang L, Dovat S, Broach J. Integrating Optical Genome Mapping and Whole Genome Sequencing in Somatic Structural Variant Detection. Journal of Personalized Medicine. 2024;14(3):291. doi:10.3390/jpm14030291
https://www.mdpi.com/2075-4426/14/3/291
Finlay D, Murad R, Hong K, et al. Detection of Genomic Structural Variations Associated with Drug Sensitivity and Resistance in Acute Leukemia. Cancers. 2024;16(2):418. doi:10.3390/cancers16020418
https://www.mdpi.com/2072-6694/16/2/418
Levy B, Kanagal-Shamanna R, Sahajpal N, et al. A framework for the clinical implementation of optical genome mapping in hematologic malignancies. American Journal of Hematology. 2024;99(4):642-661. doi:10.1002/ajh.27175
https://onlinelibrary.wiley.com/doi/10.1002/ajh.27175
Loghavi S, Wei Q, Ravandi F, et al. Optical genome mapping improves the accuracy of classification, risk stratification, and personalized treatment strategies for patients with acute myeloid leukemia. American Journal of Hematology. 2024;99(10):1959-1968. doi:10.1002/ajh.27435
https://onlinelibrary.wiley.com/doi/10.1002/ajh.27435
Lühmann J, Zimmermann M, Hofmann W, et al. Deciphering the molecular complexity of the IKZF1plus genomic profile using Optical Genome Mapping. Haematologica. 2024;109(5):1582-1587. doi:10.3324/haematol.2023.284115
https://haematologica.org/article/view/haematol.2023.284115
Naik M, Ojha N, Sahoo T, et al. Application of Optical Genome Mapping to the Risk Stratification and Treatment Optimization of Hematologic Diseases. Published online February 23, 2024. Preprints 2024, 2024021332. doi:10.20944/preprints202402.1332.v1
https://www.preprints.org/manuscript/202402.1332/v1
Seto A, Downs G, King O, et al. Genomic Characterization of Partial Tandem Duplication Involving the KMT2A Gene in Adult Acute Myeloid Leukemia. Cancers. 2024;16(9):1693. doi:10.3390/cancers16091693
https://www.mdpi.com/2072-6694/16/9/1693
Zou Y, Klausner M, Ghabrial J, et al. A comprehensive approach to evaluate genetic abnormalities in multiple myeloma using optical genome mapping. Blood Cancer J. 2024;14(1):1-5. doi:10.1038/s41408-024-01059-x
https://www.nature.com/articles/s41408-024-01059-x
2023
Giguère A, Raymond-Bouchard I, Collin V, Claveau JS, Hébert J, LeBlanc R. Optical genome mapping reveals the complex genetic landscape of myeloma. Cancers. 2023;15(19):4687. doi:10.3390/cancers15194687
https://pmc.ncbi.nlm.nih.gov/articles/PMC10571866/
Levy B, Baughn L, Akkari Y, et al. Optical genome mapping in acute myeloid leukemia: a multicenter evaluation. Blood Adv. 2023;7(7):1297-1307. doi:10.1182/bloodadvances.2022007583
https://pubmed.ncbi.nlm.nih.gov/36417763/
Pang A, Kosco K, Sahajpal NS, et al. Analytic Validation of Optical Genome Mapping in Hematological Malignancies. Biomedicines. 2023;11(12):3263. doi:10.3390/biomedicines11123263
https://www.mdpi.com/2227-9059/11/12/3263
Valkama A, Vorimo S, Kumpula TA, et al. Optical genome mapping as an alternative to FISH-based cytogenetic assessment in chronic lymphocytic leukemia. Cancers. 2023;15(4):1294. doi:10.3390/cancers15041294
https://www.mdpi.com/2072-6694/15/4/1294
2022
Balducci E, Kaltenbach S, Villarese P, et al. Optical genome mapping refines cytogenetic diagnostics, prognostic stratification and provides new molecular insights in adult MDS/AML patients. Blood Cancer J. 2022;12(9):126. doi:10.1038/s41408-022-00718-1
https://www.nature.com/articles/s41408-022-00718-1
Gerding WM, Tembrink M, Nilius-Eliliwi V, et al. Optical genome mapping reveals additional prognostic information compared to conventional cytogenetics in AML/MDS patients. International Journal of Cancer. 2022;150(12):1998-2011. doi:10.1002/ijc.33942
https://onlinelibrary.wiley.com/doi/abs/10.1002/ijc.33942
Puiggros A, Ramos-Campoy S, Kamaso J, et al. Optical genome mapping: A promising new tool to assess genomic complexity in chronic lymphocytic leukemia (CLL). Cancers. 2022;14(14):3376. doi:10.3390/cancers14143376
https://www.mdpi.com/2072-6694/14/14/3376
Rack K, De Bie J, Ameye G, et al. Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping. American Journal of Hematology. 2022;97(5):548-561. doi:10.1002/ajh.26487
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajh.26487
Sahajpal NS, Mondal AK, Tvrdik T, et al. Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms. The Journal of Molecular Diagnostics. 2022;24(12):1279-1291. doi:10.1016/j.jmoldx.2022.09.009
https://pubmed.ncbi.nlm.nih.gov/36265723/
Smith AC, Neveling K, Kanagal-Shamanna R. Optical genome mapping for structural variation analysis in hematologic malignancies. American Journal of Hematology. 2022;97(7):975-982. doi:10.1002/ajh.26587
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajh.26587
Yang H, Garcia-Manero G, Sasaki K, et al. High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic significance. Leukemia. 2022;36(9):2306-2316. doi:10.1038/s41375-022-01652-8
https://www.nature.com/articles/s41375-022-01652-8
2021
Kriegova E, Fillerova R, Minarik J, et al. Whole-genome optical mapping of bone-marrow myeloma cells reveals association of extramedullary multiple myeloma with chromosome 1 abnormalities. Sci Rep. 2021;11(1):14671. doi:10.1038/s41598-021-93835-z
https://pubmed.ncbi.nlm.nih.gov/34282158/
Lestringant V, Duployez N, Penther D, et al. Optical genome mapping, a promising alternative to gold standard cytogenetic approaches in a series of acute lymphoblastic leukemias. Genes Chromosomes Cancer. 2021;60(10):657-667. doi:10.1002/gcc.22971
https://pubmed.ncbi.nlm.nih.gov/33982372/
Lühmann JL, Stelter M, Wolter M, et al. The clinical utility of optical genome mapping for the assessment of genomic aberrations in acute lymphoblastic leukemia. Cancers. 2021;13(17):4388. doi:10.3390/cancers13174388
https://pubmed.ncbi.nlm.nih.gov/34503197/
Neveling K, Mantere T, Vermeulen S, et al. Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping. The American Journal of Human Genetics. 2021;108(8):1423-1435. doi:10.1016/j.ajhg.2021.06.001