Detalhe da pesquisa
1.
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Bioinformatics
; 39(3)2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36916756
2.
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
Hum Mutat
; 41(12): 2128-2142, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906215
3.
Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia.
Breast Cancer Res
; 22(1): 108, 2020 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087180
4.
Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
J Med Genet
; 56(8): 521-525, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580288
5.
Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.
Breast Cancer Res Treat
; 155(2): 253-60, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26780556
6.
ICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencing.
Hum Mutat
; 35(3): 271-7, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24227591
7.
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
Breast Cancer Res Treat
; 132(3): 979-92, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21735045
8.
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Breast Cancer Res Treat
; 132(3): 1009-23, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21769658
9.
Identification of a new complex rearrangement affecting exon 20 of BRCA1.
Breast Cancer Res Treat
; 130(1): 341-4, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21761158
10.
Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.
Breast Cancer Res Treat
; 122(3): 733-43, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19894111
11.
Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines.
J Mol Diagn
; 22(12): 1453-1468, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33011440
12.
Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance.
Dis Model Mech
; 11(5)2018 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29666142
13.
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Sci Rep
; 7: 39348, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28051113
14.
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Sci Rep
; 7: 37984, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28050010
15.
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.
PLoS One
; 10(4): e0120020, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25830658
16.
Functional and structural analysis of C-terminal BRCA1 missense variants.
PLoS One
; 8(4): e61302, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23613828
17.
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
Eur J Hum Genet
; 21(8): 864-70, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23249957