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Application of Optical Genome Mapping to the Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy 1

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참고문헌 (16)

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  2. Goodwin S, "Coming of age : ten years of next-generation sequencing technologies", Nat Rev Genet, 17, pp.333~351 (2016)
  3. Vieler LM, "Optical genome mapping reveals and characterizes recurrent aberrations and new fusion genes in adult ALL", Genes(Basel), 14, pp.686~ (2023)
  4. Giguère A, "Optical genome mapping reveals the complex genetic landscape of myeloma", Cancers(Basel), 15, pp.4687~ (2023)
  5. Neveling K, "Next-generation cytogenetics : comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping", Am J Hum Genet, 108, pp.1423~1435 (2021)
  6. Shim Y, "Comparison of optical genome mapping with conventional diagnostic methods for structural variant detection in hematologic malignancies", Ann Lab Med, 44, pp.324~334 (2024)
  7. Shim Y, "Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample", Cancer Cell Int, 22, pp.306~ (2022)
  8. Cheng Y, "Optical genome mapping reveals the landscape of structural variations and their clinical significance in HBOC-related breast cancer", Front Biosci(Landmark Ed), 29, pp.2~ (2024)
  9. Zhang Q, "Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis", Acta Obstet Gynecol Scand, 102, pp.1053~1062 (2023)
  10. de Bruijn SE, "Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes", Genet Med, 25, pp.100345~ (2023)
  11. Mantere T, "Optical genome mapping enables constitutional chromosomal aberration detection", Am J Hum Genet, 108, pp.1409~1422 (2021)
  12. Facchini S, "Optical genome mapping enables detection and accurate sizing of RFC1 repeat expansions", Biomolecules, 13, pp.1546~ (2023)
  13. Flanigan KM, "Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy", Neuromuscul Disord, 11, pp.525~529 (2001)
  14. Tawil R, "Facioscapulohumeral dystrophy : the path to consensus on pathophysiology", Skelet Muscle, 4, pp.12~ (2014)
  15. Hamel J, "Facioscapulohumeral muscular dystrophy : update on pathogenesis and future treatments", Neurotherapeutics, 15, pp.863~871 (2018)
  16. Shim Y, "Clinical application of optical genome mapping for molecular diagnosis of facioscapulohumeral muscular dystrophy", Ann Lab Med, 44, pp.437~445 (2024)

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