Detalhe da pesquisa
1.
Calibrating variant curation by clinical context based on factors that influence patients' tolerance of uncertainty.
Genet Med
; 25(12): 100982, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37724515
2.
Heterogeneity in how women value risk-stratified breast screening.
Genet Med
; 24(1): 146-156, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906505
3.
The predicted effect and cost-effectiveness of tailoring colonoscopic surveillance according to mismatch repair gene in patients with Lynch syndrome.
Genet Med
; 24(9): 1831-1846, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35809086
4.
Real world outcomes and implementation pathways of exome sequencing in an adult genetic department.
Genet Med
; 24(7): 1536-1544, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35416776
5.
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
J Med Genet
; 58(12): 853-858, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33168572
6.
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.
Hered Cancer Clin Pract
; 19(1): 24, 2021 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33836815
7.
Cost-effectiveness of long-term clinical management of BRCA pathogenic variant carriers.
Genet Med
; 22(5): 831-839, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996782
8.
Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei.
BMC Cancer
; 20(1): 369, 2020 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32357859
9.
The predicted impact and cost-effectiveness of systematic testing of people with incident colorectal cancer for Lynch syndrome.
Med J Aust
; 212(2): 72-81, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595523
10.
Insights into sudden cardiac death: exploring the potential relevance of non-diagnostic autopsy findings.
Eur Heart J
; 40(10): 831-838, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30380018
11.
A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy.
Genet Med
; 21(12): 2815-2822, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31222143
12.
Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.
Genet Med
; 21(4): 913-922, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30254378
13.
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Genet Med
; 21(12): 2706-2712, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204389
14.
A Microsimulation Model for Evaluating the Effectiveness of Cancer Risk Management for BRCA Pathogenic Variant Carriers: miBRovaCAre.
Value Health
; 22(8): 854-862, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31426925
15.
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.
J Genet Couns
; 28(2): 388-397, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30776170
16.
Arrhythmogenic Right Ventricular Cardiomyopathy: A Review of Living and Deceased Probands.
Heart Lung Circ
; 28(7): 1034-1041, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30126789
17.
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
Breast Cancer Res
; 20(1): 3, 2018 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29316957
18.
Cost-effectiveness and comparative effectiveness of cancer risk management strategies in BRCA1/2 mutation carriers: a systematic review.
Genet Med
; 20(10): 1145-1156, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29323669
19.
Changing landscape of hereditary breast and ovarian cancer germline genetic testing in Australia.
Intern Med J
; 48(10): 1269-1272, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30288903
20.
Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.
Intern Med J
; 47(6): 664-673, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328109