Detalhe da pesquisa
1.
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Am J Hum Genet
; 110(7): 1046-1067, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37352859
2.
Increased gene expression variability in BRCA1-associated and basal-like breast tumours.
Breast Cancer Res Treat
; 189(2): 363-375, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34287743
3.
Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry.
Breast Cancer Res
; 19(1): 30, 2017 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28302160
4.
Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events.
Breast Cancer Res
; 19(1): 127, 2017 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29183387
5.
E-cadherin loss alters cytoskeletal organization and adhesion in non-malignant breast cells but is insufficient to induce an epithelial-mesenchymal transition.
BMC Cancer
; 14: 552, 2014 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25079037
6.
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
medRxiv
; 2023 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36865205
7.
Increased Ascorbate Content of Glioblastoma Is Associated With a Suppressed Hypoxic Response and Improved Patient Survival.
Front Oncol
; 12: 829524, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35419292
8.
Ascorbate content of clinical glioma tissues is related to tumour grade and to global levels of 5-hydroxymethyl cytosine.
Sci Rep
; 12(1): 14845, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36050369
9.
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Commun Biol
; 5(1): 1061, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36203093
10.
Variable expression quantitative trait loci analysis of breast cancer risk variants.
Sci Rep
; 11(1): 7192, 2021 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33785833
11.
RNAscope compatibility with image analysis platforms for the quantification of tissue-based colorectal cancer biomarkers in archival formalin-fixed paraffin-embedded tissue.
Acta Histochem
; 123(6): 151765, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34364165
12.
Differential Expression of BARD1 Isoforms in Melanoma.
Genes (Basel)
; 12(2)2021 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33672422
13.
Genome-Wide Gene Expression Analyses of BRCA1- and BRCA2-Associated Breast and Ovarian Tumours.
Cancers (Basel)
; 12(10)2020 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33081408
14.
Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification.
Front Genet
; 10: 1139, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31803232
15.
Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.
Eur J Hum Genet
; 27(1): 167-168, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30135485
16.
Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.
Eur J Hum Genet
; 25(4): 432-438, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28145423
17.
The Role of Constitutional Copy Number Variants in Breast Cancer.
Microarrays (Basel)
; 4(3): 407-23, 2015 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27600231