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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: laner a. Eur J Hum Genet. 2024 Jul;32(7):858-863. doi: 10.1038/s41431-024-01617-8. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778080 Free PMC article.
Stepwise ABC system for classification of any type of genetic variant.
Houge G, Laner A, Cirak S, de Leeuw N, Scheffer H, den Dunnen JT. Houge G, et al. Among authors: laner a. Eur J Hum Genet. 2022 Feb;30(2):150-159. doi: 10.1038/s41431-021-00903-z. Epub 2021 May 13. Eur J Hum Genet. 2022. PMID: 33981013 Free PMC article.
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report.
Te Paske IBAW, Garcia-Pelaez J, Sommer AK, Matalonga L, Starzynska T, Jakubowska A; Solve-RD-GENTURIS group,; van der Post RS, Lubinski J, Oliveira C, Hoogerbrugge N, de Voer RM. Te Paske IBAW, et al. Eur J Hum Genet. 2021 Sep;29(9):1354-1358. doi: 10.1038/s41431-021-00853-6. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075207 Free PMC article.
64 results