Detalhe da pesquisa
1.
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
Hum Mol Genet
; 33(8): 724-732, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271184
2.
CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources.
J Med Genet
; 60(12): 1215-1217, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37536919
3.
Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.
J Med Genet
; 60(2): 112-118, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396271
4.
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
Br J Cancer
; 128(12): 2283-2294, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076566
5.
Development and evaluation of a novel educational program for providers on the use of polygenic risk scores.
Genet Med
; 25(8): 100876, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37149760
6.
Universal genetic testing for women with newly diagnosed breast cancer in the context of multidisciplinary team care.
Med J Aust
; 218(8): 368-373, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37005005
7.
Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health.
Twin Res Hum Genet
; 26(1): 40-48, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36950972
8.
Estimating the proportion of pathogenic variants from breast cancer case-control data: Application to calibration of ACMG/AMP variant classification criteria.
Hum Mutat
; 43(7): 882-888, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35191126
9.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979650
10.
Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity.
Genet Med
; 24(3): 673-680, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906512
11.
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
12.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Genet Med
; 24(1): 119-129, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906479
13.
Clinical impact of whole-genome sequencing in patients with early-onset dementia.
J Neurol Neurosurg Psychiatry
; 2022 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35906014
14.
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
15.
Metaphors and why these are important in all aspects of genetic counseling.
J Genet Couns
; 31(1): 34-40, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34233383
16.
Polygenic risk in familial breast cancer: Changing the dynamics of communicating genetic risk.
J Genet Couns
; 31(1): 120-129, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34223688
17.
Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.
Hum Mutat
; 42(10): 1265-1278, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245638
18.
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy.
Hum Mutat
; 42(10): 1351-1361, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34273903
19.
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Hum Mutat
; 42(3): 223-236, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300245
20.
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy.
Genet Med
; 23(6): 1108-1115, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568804