Publications
2026
Chakraborty S, Bickford M, Smuliac N, et al. Optical Genome Mapping Enhances Structural Variant Detection and Refines Risk Stratification in Chronic Lymphocytic Leukemia. Genes. 2026 Jan 19:; 17(1): 106. doi: 10.3390/genes17010106
https://pubmed.ncbi.nlm.nih.gov/41595525
2025
OGM and NGS for Plasma Cell Neoplasms. Association for Molecular Pathology, Molecular in My Pocket. PlasmaCellNeoplasms.pdf
Allister BA, Lühmann JL, Wendeburg L, et al. Tandem duplication and triplication in BRCA1: revisiting the large genomic rearrangements via optical genome mapping. Cancer Genet. 2025;296-297:125-129. doi:10.1016/j.cancergen.2025.07.002
https://pubmed.ncbi.nlm.nih.gov/40664023/
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
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/
Brownstein CA, van der Made CI, Cabral K, et al. Rare structural variants uncovered by optical genome mapping in multisystem inflammatory syndrome in children (MIS-C). Adv Genet (Hoboken). 2025;6(4):e00023. doi:10.1002/ggn2.202500023
https://advanced.onlinelibrary.wiley.com/doi/epdf/10.1002/ggn2.202500023
Vanhevel J, Rack K, Ameye G, Mokrani H, De Bie J, Michaux L, Dewaele B. The Use of Optical Genome Mapping for the Detection of Tyrosine Kinase Gene Fusions in Myeloid/Lymphoid Neoplasms. Journal of Cellular and Molecular Medicine. 2025 Jun;29(12):e70640. doi: 10.1111/jcmm.70640
https://onlinelibrary.wiley.com/doi/epdf/10.1111/jcmm.70640
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
Singh H, Sahajpal NS, Gupta V, et al. Optical genome mapping identifies hidden structural variation in acute myeloid leukemia: two case reports. Hematol Transfus Cell Ther. 2024;46(suppl 6):S421-S426. doi:10.1016/j.htct.2024.06.011
https://doi.org/10.1016/j.htct.2024.06.011
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
Singh H, Sahajpal NS, Mondal AK, et al. Clinical utility of optical genome mapping for improved cytogenomic analysis of gliomas. Biomedicines. 2024;12(8):1659. doi:10.3390/biomedicines12081659
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
Levy B, Liu J, Iqbal MA, et al. Multisite evaluation and validation of optical genome mapping for prenatal genetic testing. J Mol Diagn. 2024;26(10):906-916. doi:10.1016/j.jmoldx.2024.06.006
https://doi.org/10.1016/j.jmoldx.2024.06.006
Church AJ, Akkari Y, Deeb K, et al; ACMG Laboratory Quality Assurance Committee. Section E6.7-6.12 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: cytogenomic studies of acquired chromosomal abnormalities in solid tumors. Genet Med. 2024;26(4):101070. doi:10.1016/j.gim.2024.101070
https://doi.org/10.1016/j.gim.2024.101070
Broeckel U, Iqbal MA, Levy B, et al. Detection of constitutional structural variants by optical genome mapping: a multisite study of postnatal samples. J Mol Diagn. 2024;26(3):213-226. doi:10.1016/j.jmoldx.2023.12.003
https://doi.org/10.1016/j.jmoldx.2023.12.003
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/
Sahajpal NS, Mondal AK, Hastie A, Chaubey A, Kolhe R. Optical genome mapping for oncology applications. Curr Protoc. 2023;3(10):e910. doi:10.1002/cpz1.910
https://doi.org/10.1002/cpz1.910
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/
Sahajpal NS, Mondal AK, Singh H, et al. Clinical utility of optical genome mapping and 523-gene next generation sequencing panel for comprehensive evaluation of myeloid cancers. Cancers (Basel). 2023;15(12):3214. doi:10.3390/cancers15123214
Sahajpal NS, Mondal AK, Vashisht A, et al. Optical genome mapping: integrating structural variations for precise homologous recombination deficiency score calculation. Genes (Basel). 2023;14(9):1683. doi:10.3390/genes14091683
https://pmc.ncbi.nlm.nih.gov/articles/PMC10530691/
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
Brakta S, Hawkins ZA, Sahajpal N, et al. Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping. Hum Genet. 2023;142(4):483-494. doi:10.1007/s00439-023-02522-8
https://doi.org/10.1007/s00439-023-02522-8
Iqbal MA, Broeckel U, Levy B, et al. Multisite assessment of optical genome mapping for analysis of structural variants in constitutional postnatal cases. J Mol Diagn. 2023;25(3):175-188. doi:10.1016/j.jmoldx.2022.12.005
https://pmc.ncbi.nlm.nih.gov/articles/PMC10851778/
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
Sahajpal NS, Mondal AK, Fee T, et al. Clinical validation and diagnostic utility of optical genome mapping in prenatal diagnostic testing. J Mol Diagn. 2023;25(4):234-246. doi:10.1016/j.jmoldx.2023.01.006
https://pubmed.ncbi.nlm.nih.gov/36758723/
Sahajpal NS, Hastie AR, Schieck M, et al; COVID19hostgenomesv Consortium. Genetic predisposition to neurological complications in patients with COVID-19. Biomolecules. 2023;13(1):133. doi:10.3390/biom13010133
https://pmc.ncbi.nlm.nih.gov/articles/PMC9855758/
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/
Sahajpal NS, Mondal AK, Ananth S, et al. Optical genome mapping and single nucleotide polymorphism microarray: an integrated approach for investigating products of conception. Genes (Basel). 2022;13(4):643. doi:10.3390/genes13040643
https://pmc.ncbi.nlm.nih.gov/articles/PMC9026980/
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
Sahajpal NS, Jill Lai CY, Hastie A, et al; COVID19hostgenomesv Consortium. Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19. iScience. 2022;25(2):103760. doi:10.1016/j.isci.2022.103760
https://doi.org/10.1016/j.isci.2022.103760
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/
Sahajpal NS, Barseghyan H, Kolhe R, Hastie A, Chaubey A. Optical genome mapping as a next-generation cytogenomic tool for detection of structural and copy number variations for prenatal genomic analyses. Genes (Basel). 2021;12(3):398. doi:10.3390/genes12030398
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