Detalhe da pesquisa
1.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273432
2.
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
3.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(15): 7913-7923, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750258
4.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Hum Mutat
; 40(9): 1557-1578, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131967
5.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 48(3): 1600-1601, 2020 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31863589
6.
Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas.
Int J Cancer
; 138(4): 891-900, 2016 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26317927
7.
Germline BAP1 mutations predispose to renal cell carcinomas.
Am J Hum Genet
; 92(6): 974-80, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23684012
8.
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(21): 11656-11657, 2018 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30321405
9.
Loss of heterozygosity at 13q13 and 14q32 predicts BRCA2 inactivation in luminal breast carcinomas.
Int J Cancer
; 133(12): 2834-42, 2013 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23754601
10.
Germline mutation in the RAD51B gene confers predisposition to breast cancer.
BMC Cancer
; 13: 484, 2013 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-24139550
11.
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Hum Mutat
; 33(8): 1228-38, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22505045
12.
EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.
Hum Mutat
; 32(3): 325-34, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21120943
13.
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
Cancer Res
; 80(7): 1374-1386, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32046981
14.
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
Cancer Res
; 80(17): 3593-3605, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32641407
15.
Evaluation of in silico splice tools for decision-making in molecular diagnosis.
Hum Mutat
; 29(7): 975-82, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18449911
16.
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation.
Eur J Hum Genet
; 15(4): 473-7, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17299438
17.
Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.
Eur J Hum Genet
; 25(10): 1147-1154, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28905878
18.
Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations.
Oncogene
; 23(4): 914-9, 2004 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-14647443
19.
Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families.
Oncogene
; 21(44): 6841-7, 2002 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-12360411
20.
Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation.
Cancer Res
; 72(21): 5454-62, 2012 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22933060