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Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Fortuno C, Cops EJ, Davidson AL, Hadler J, Innella G, McKenzie ME, Parsons M, Campbell AM, Dubowsky A, Fargas V, Field MJ, Mar Fan HG, Nichols CB, Poplawski NK, Warwick L, Williams R, Beshay V, Edwards C, Johns A, McPhillips M, Kumar VS, Scott R, Williams M, Scott H, James PA, Spurdle AB. Fortuno C, et al. Among authors: field mj. Eur J Hum Genet. 2024 Dec;32(12):1632-1639. doi: 10.1038/s41431-024-01705-9. Epub 2024 Oct 14. Eur J Hum Genet. 2024. PMID: 39402389 Free PMC article.
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.
Baker EK, Arpone M, Bui M, Kraan CM, Ling L, Francis D, Hunter MF, Rogers C, Field MJ, Santa María L, Faundes V, Curotto B, Morales P, Trigo C, Salas I, Alliende AM, Amor DJ, Godler DE. Baker EK, et al. Among authors: field mj. Am J Med Genet A. 2023 Feb;191(2):357-369. doi: 10.1002/ajmg.a.63027. Epub 2022 Nov 8. Am J Med Genet A. 2023. PMID: 36349505 Free PMC article.
Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.
Arpone M, Bretherton L, Amor DJ, Hearps SJC, Rogers C, Field MJ, Hunter MF, Santa Maria L, Alliende AM, Slee J, Godler DE, Baker EK. Arpone M, et al. Among authors: field mj. Res Dev Disabil. 2022 Dec;131:104338. doi: 10.1016/j.ridd.2022.104338. Epub 2022 Sep 28. Res Dev Disabil. 2022. PMID: 36179574
277 results