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The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Genome Med. 2023 Sep 19;15(1):74. doi: 10.1186/s13073-023-01223-1.
Genome Med. 2023.
PMID: 37723522
Free PMC article.
Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics.
Meiser B, Kaur R, Kirk J, Morrow A, Peate M, Wong WKT, McPike E, Cops E, Dowson C, Austin R, Fine M, Thrupp L, Ward R, Macrae F, Hiller JE, Trainer AH, Mitchell G; ICCon Audit Study Collaborative Group.
Meiser B, et al.
Fam Cancer. 2020 Oct;19(4):337-346. doi: 10.1007/s10689-020-00183-4.
Fam Cancer. 2020.
PMID: 32385704
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Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice.
Meiser B, Kaur R, Morrow A, Peate M, Wong WKT, McPike E, Cops E, Nichols C, Austin R, Fine M, Thrupp L, Ward R, Macrae F, Hiller JE, Trainer AH, Mitchell G; ICCon Audit Study Collaborative Group.
Meiser B, et al.
Hered Cancer Clin Pract. 2021 Apr 9;19(1):24. doi: 10.1186/s13053-021-00180-3.
Hered Cancer Clin Pract. 2021.
PMID: 33836815
Free PMC article.
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Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study.
Meiser B, Monnik M, Austin R, Nichols C, Cops E, Salmon L, Spurdle AB, Macrae F, Taylor N, Pachter N, James P, Kaur R.
Meiser B, et al.
J Community Genet. 2022 Feb;13(1):59-73. doi: 10.1007/s12687-021-00559-8. Epub 2021 Nov 2.
J Community Genet. 2022.
PMID: 34727336
Free PMC article.
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Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study.
Wedd L, Gleeson M, Meiser B, O'Shea R, Barlow-Stewart K, Spurdle AB, James P, Fleming J, Nichols C, Austin R, Cops E, Monnik M, Do J, Kaur R.
Wedd L, et al.
J Community Genet. 2023 Jun;14(3):307-317. doi: 10.1007/s12687-023-00644-0. Epub 2023 Apr 3.
J Community Genet. 2023.
PMID: 37012465
Free PMC article.
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Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
De Sousa SMC, Wu KHC, Colclough K, Rawlings L, Dubowsky A, Monnik M, Poplawski N, Scott HS, Horowitz M, Torpy DJ.
De Sousa SMC, et al.
Acta Diabetol. 2024 Feb;61(2):181-188. doi: 10.1007/s00592-023-02193-x. Epub 2023 Oct 9.
Acta Diabetol. 2024.
PMID: 37812285
Free PMC article.
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