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.
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
3.
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
4.
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
BMC Genomics
; 21(1): 86, 2020 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992191
5.
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
J Med Genet
; 56(6): 347-357, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30962250
6.
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
J Med Genet
; 56(7): 453-460, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30890586
7.
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
Int J Cancer
; 145(2): 401-414, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30623411
8.
Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells.
Int J Mol Sci
; 20(3)2019 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30736279
9.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum Mol Genet
; 25(11): 2256-2268, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008870
10.
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
11.
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
12.
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
J Med Genet
; 53(8): 548-58, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27060066
13.
Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition.
Hum Genet
; 134(3): 269-78, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25381466
14.
Phosphohistone H3 outperforms Ki67 as a marker of outcome for breast cancer patients.
Histopathology
; 67(4): 538-47, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728258
15.
Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.
Hum Mutat
; 34(10): 1424-31, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23893897
16.
Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.
PLoS Genet
; 6(2): e1000850, 2010 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-20174566
17.
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
18.
Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours.
Breast Cancer Res Treat
; 134(3): 1005-11, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22434526
19.
Rare germline copy number variants (CNVs) and breast cancer risk.
Commun Biol
; 5(1): 65, 2022 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35042965
20.
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.
Hum Mutat
; 32(6): 678-87, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21394826