Detalhe da pesquisa
1.
SpliceLauncher: a tool for detection, annotation and relative quantification of alternative junctions from RNAseq data.
Bioinformatics
; 36(5): 1634-1636, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31617569
2.
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
3.
Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
Genet Med
; 20(12): 1677-1686, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29988077
4.
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
5.
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
6.
The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.
J Med Genet
; 47(6): 398-403, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20522429
7.
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
8.
OutLyzer: software for extracting low-allele-frequency tumor mutations from sequencing background noise in clinical practice.
Oncotarget
; 7(48): 79485-79493, 2016 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27825131
9.
Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.
Cancer Med
; 4(10): 1484-93, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26155992
10.
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
Eur J Hum Genet
; 22(11): 1305-13, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24549055
11.
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.
Eur J Hum Genet
; 19(10): 1052-8, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21673748