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A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing.
Bjørnstad PM, Aaløkken R, Åsheim J, Sundaram AYM, Felde CN, Østby GH, Dalland M, Sjursen W, Carrizosa C, Vigeland MD, Sorte HS, Sheng Y, Ariansen SL, Grindedal EM, Gilfillan GD. Bjørnstad PM, et al. Among authors: sjursen w. Eur J Hum Genet. 2024 May;32(5):513-520. doi: 10.1038/s41431-023-01494-7. Epub 2023 Nov 29. Eur J Hum Genet. 2024. PMID: 38030917 Free PMC article.
The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry.
Grindedal EM, Aarset H, Bjørnevoll I, Røyset E, Mæhle L, Stormorken A, Heramb C, Medvik H, Møller P, Sjursen W. Grindedal EM, et al. Among authors: sjursen w. Hered Cancer Clin Pract. 2014 Apr 21;12(1):12. doi: 10.1186/1897-4287-12-12. eCollection 2014. Hered Cancer Clin Pract. 2014. PMID: 24790682 Free PMC article.
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
Hovland HN, Al-Adhami R, Ariansen SL, Van Ghelue M, Sjursen W, Lima S, Bolstad M, Berger AH, Høberg-Vetti H, Knappskog P, Haukanes BI, Aukrust I, Ognedal E. Hovland HN, et al. Among authors: sjursen w. Fam Cancer. 2022 Oct;21(4):389-398. doi: 10.1007/s10689-021-00286-6. Epub 2022 Jan 4. Fam Cancer. 2022. PMID: 34981296 Free PMC article.
Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing.
Bjørnstad PM, Aaløkken R, Åsheim J, Sundaram AYM, Felde CN, Østby GH, Dalland M, Sjursen W, Carrizosa C, Vigeland MD, Sorte HS, Sheng Y, Ariansen SL, Grindedal EM, Gilfillan GD. Bjørnstad PM, et al. Among authors: sjursen w. Eur J Hum Genet. 2024 May;32(5):601-602. doi: 10.1038/s41431-023-01519-1. Eur J Hum Genet. 2024. PMID: 38172175 Free PMC article. No abstract available.
Comparison of the ABC and ACMG systems for variant classification.
Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Houge G, et al. Among authors: sjursen w. Eur J Hum Genet. 2024 May 22. doi: 10.1038/s41431-024-01617-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38778080
39 results