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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Am J Hum Genet. 2022 Nov 3;109(11):1960-1973. doi: 10.1016/j.ajhg.2022.10.006.
Am J Hum Genet. 2022.
PMID: 36332611
Free PMC article.
Review.
Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity.
Fortuno C, McGoldrick K, Pesaran T, Dolinsky J, Hoang L, Weitzel JN, Beshay V, San Leong H, James PA, Spurdle AB.
Fortuno C, et al. Among authors: san leong h.
Genet Med. 2022 Mar;24(3):673-680. doi: 10.1016/j.gim.2021.10.018. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906512
Free article.
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Profound MEK inhibitor response in a cutaneous melanoma harboring a GOLGA4-RAF1 fusion.
McEvoy CR, Xu H, Smith K, Etemadmoghadam D, San Leong H, Choong DY, Byrne DJ, Iravani A, Beck S, Mileshkin L, Tothill RW, Bowtell DD, Bates BM, Nastevski V, Browning J, Bell AH, Khoo C, Desai J, Fellowes AP, Fox SB, Prall OW.
McEvoy CR, et al. Among authors: san leong h.
J Clin Invest. 2019 May 1;129(5):1940-1945. doi: 10.1172/JCI123089. Epub 2019 Mar 5.
J Clin Invest. 2019.
PMID: 30835257
Free PMC article.
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