Publications


Zou YS, 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

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

Budurlean L, Tukaramrao DB, 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

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

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 NS, 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

Pang AWC, 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

Lühmann JL, 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

Levy B, Baughn LB, 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/

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/

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

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

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

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

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

https://www.cell.com/ajhg/fulltext/S0002-9297(21)00223-8