Detalhe da pesquisa
1.
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.
Clin Chem
; 70(1): 319-338, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37725924
2.
Performance of a RAD51-based functional HRD test on paraffin-embedded breast cancer tissue.
Breast Cancer Res Treat
; 202(3): 607-616, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37725154
3.
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
4.
Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
Genet Med
; 22(8): 1427-1428, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576986
5.
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
Genet Med
; 22(8): 1355-1365, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32398771
6.
Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families.
J Med Genet
; 56(9): 581-589, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31186341
7.
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
8.
The functional impact of variants of uncertain significance in BRCA2.
Genet Med
; 21(2): 293-302, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29988080
9.
Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes.
Hum Mutat
; 37(4): 331-6, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26777316
10.
Tumor slice culture system to assess drug response of primary breast cancer.
BMC Cancer
; 16: 78, 2016 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26860465
11.
Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation.
J Med Genet
; 57(8): 509-518, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32152249
12.
BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
J Med Genet
; 52(4): 224-30, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25643705
13.
The effects of short-term fasting on tolerance to (neo) adjuvant chemotherapy in HER2-negative breast cancer patients: a randomized pilot study.
BMC Cancer
; 15: 652, 2015 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26438237
14.
Functional assays for analysis of variants of uncertain significance in BRCA2.
Hum Mutat
; 35(2): 151-64, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24323938
15.
An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.
Hum Mutat
; 35(11): 1382-91, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25146914
16.
Variants of uncertain significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling.
J Med Genet
; 50(2): 74-9, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23231788
17.
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
J Med Genet
; 49(8): 525-32, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22889855
18.
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
PLoS Genet
; 6(2): e1000833, 2010 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20140240
19.
A guide for functional analysis of BRCA1 variants of uncertain significance.
Hum Mutat
; 33(11): 1526-37, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22753008
20.
RAD51 as a functional biomarker for homologous recombination deficiency in cancer: a promising addition to the HRD toolbox?
Expert Rev Mol Diagn
; 22(2): 185-199, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34913794