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Page 1
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Nat Med. 2023. PMID: 36658419 Free PMC article.
RNF43 pathogenic Germline variant in a family with colorectal cancer.
Mikaeel RR, Young JP, Li Y, Poplawski NK, Smith E, Horsnell M, Uylaki W, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Scott H, Rawlings L, Henry D, Vakulin C, Dubowsky A, Price TJ. Mikaeel RR, et al. Among authors: dubowsky a. Clin Genet. 2022 Jan;101(1):122-126. doi: 10.1111/cge.14064. Epub 2021 Sep 27. Clin Genet. 2022. PMID: 34541672
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: dubowsky a. 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.
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.
Siggs OM, Souzeau E, Taranath DA, Dubowsky A, Chappell A, Zhou T, Javadiyan S, Nicholl J, Kearns LS, Staffieri SE, Narita A, Smith JEH, Pater J, Hewitt AW, Ruddle JB, Elder JE, Mackey DA, Burdon KP, Craig JE. Siggs OM, et al. Among authors: dubowsky a. Ophthalmology. 2020 Jun;127(6):758-766. doi: 10.1016/j.ophtha.2019.12.024. Epub 2020 Jan 7. Ophthalmology. 2020. PMID: 32085876
Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.
Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, Rait JL, Narita A, Mauri L, Del Longo A, Reis A, Chappell A, Kearns LS, Staffieri SE, Elder JE, Ruddle JB, Hewitt AW, Burdon KP, Mackey DA, Craig JE. Siggs OM, et al. Among authors: dubowsky a. JAMA Ophthalmol. 2019 Apr 1;137(4):348-355. doi: 10.1001/jamaophthalmol.2018.5646. JAMA Ophthalmol. 2019. PMID: 30653210 Free PMC article.
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Tudini E, Andrews J, Lawrence DM, King-Smith SL, Baker N, Baxter L, Beilby J, Bennetts B, Beshay V, Black M, Boughtwood TF, Brion K, Cheong PL, Christie M, Christodoulou J, Chong B, Cox K, Davis MR, Dejong L, Dinger ME, Doig KD, Douglas E, Dubowsky A, Ellul M, Fellowes A, Fisk K, Fortuno C, Friend K, Gallagher RL, Gao S, Hackett E, Hadler J, Hipwell M, Ho G, Hollway G, Hooper AJ, Kassahn KS, Krishnaraj R, Lau C, Le H, San Leong H, Lundie B, Lunke S, Marty A, McPhillips M, Nguyen LT, Nones K, Palmer K, Pearson JV, Quinn MCJ, Rawlings LH, Sadedin S, Sanchez L, Schreiber AW, Sigalas E, Simsek A, Soubrier J, Stark Z, Thompson BA, U J, Vakulin CG, Wells AV, Wise CA, Woods R, Ziolkowski A, Brion MJ, Scott HS, Thorne NP, Spurdle AB; Shariant Consortium. Tudini E, et al. Among authors: dubowsky a. 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.
28 results