Detalhe da pesquisa
1.
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.
Am J Hum Genet
; 107(2): 175-182, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32763188
2.
Correction: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.
Hered Cancer Clin Pract
; 20(1): 20, 2022 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35637507
3.
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Hum Mutat
; 37(2): 148-54, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26507355
4.
When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.
Hered Cancer Clin Pract
; 14: 6, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26884819
5.
AmpliVar: mutation detection in high-throughput sequence from amplicon-based libraries.
Hum Mutat
; 36(4): 411-8, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25664426
6.
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.
Breast Cancer Res Treat
; 150(1): 71-80, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25682074
7.
Cell cycle-related genes as modifiers of age of onset of colorectal cancer in Lynch syndrome: a large-scale study in non-Hispanic white patients.
Carcinogenesis
; 34(2): 299-306, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23125224
8.
The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.
Hered Cancer Clin Pract
; 11(1): 20, 2013 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-24373140
9.
Making good on the promise of genomics in healthcare: the NSW Health perspective.
Aust Health Rev
; 47(6): 631-633, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37844625
10.
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
Am J Hum Genet
; 82(2): 432-43, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18252223
11.
Somatic-gonadal mosaicism causing Sotos syndrome.
Am J Med Genet A
; 170(12): 3360-3362, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604501
12.
A Pathway to Precision Medicine for Aboriginal Australians: A Study Protocol.
Methods Protoc
; 4(2)2021 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34205718
13.
IGF1 is a modifier of disease risk in hereditary non-polyposis colorectal cancer.
Int J Cancer
; 123(6): 1339-43, 2008 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18623088
14.
Aurora-A and Cyclin D1 polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer.
Int J Cancer
; 122(6): 1273-7, 2008 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18027856
15.
The PAI-1 4G/5G gene polymorphism and ischemic stroke: an association study and meta-analysis.
J Stroke Cerebrovasc Dis
; 16(4): 173-9, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17689414
16.
Blood-based detection of RAS mutations to guide anti-EGFR therapy in colorectal cancer patients: concordance of results from circulating tumor DNA and tissue-based RAS testing.
Mol Oncol
; 11(2): 208-219, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28106345
17.
Genetic polymorphisms in xenobiotic clearance genes and their influence on disease expression in hereditary nonpolyposis colorectal cancer patients.
Cancer Epidemiol Biomarkers Prev
; 15(11): 2307-10, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17119063
18.
Direct integrin alphavbeta6-ERK binding: implications for tumour growth.
Oncogene
; 21(9): 1370-80, 2002 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-11857080
19.
Phenotype-genotype correlations in a series of wolfram syndrome families.
Diabetes Care
; 27(8): 2003-9, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15277431
20.
Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.
Eur J Med Genet
; 58(11): 629-33, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26475974