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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: thong mk. 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.
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.
Kumuthini J, Zick B, Balasopoulou A, Chalikiopoulou C, Dandara C, El-Kamah G, Findley L, Katsila T, Li R, Maceda EB, Monye H, Rada G, Thong MK, Wanigasekera T, Kennel H, Marimuthu V; G2MC Evidence investigators; Williams MS, Al-Mulla F, Abramowicz M. Kumuthini J, et al. Among authors: thong mk. Hum Genet. 2022 Nov;141(11):1697-1704. doi: 10.1007/s00439-022-02452-x. Epub 2022 Apr 30. Hum Genet. 2022. PMID: 35488921 Free PMC article. Review.
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.
Hwu WL, Okuyama T, But WM, Estrada S, Gu X, Hui J, Kosuga M, Lin SP, Ngu LH, Shi H, Tanaka A, Thong MK, Wattanasirichaigoon D, Wasant P, McGill J. Hwu WL, et al. Among authors: thong mk. Mol Genet Metab. 2012 Sep;107(1-2):136-44. doi: 10.1016/j.ymgme.2012.07.019. Epub 2012 Jul 20. Mol Genet Metab. 2012. PMID: 22864057
Childhood interstitial lung disease: The end of a diagnostic odyssey.
Chan KJ, Thong MK, Nathan AM, Thavagnanam S, Yakob Y, Gan CS. Chan KJ, et al. Among authors: thong mk. Ann Acad Med Singap. 2022 Oct;51(10):651-652. doi: 10.47102/annals-acadmedsg.202257. Ann Acad Med Singap. 2022. PMID: 36317576 Free article. No abstract available.
122 results