Detalhe da pesquisa
1.
Predicting the impact of rare variants on RNA splicing in CAGI6.
Hum Genet
; 2024 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38170232
2.
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
3.
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
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.
Predictive Relevance of Circulating miR-622 in Patients with Newly Diagnosed and Recurrent High-Grade Serous Ovarian Carcinoma.
Clin Chem
; 66(2): 352-362, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040573
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.
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
8.
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
9.
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
10.
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
11.
Echovirus 1 entry into polarized Caco-2 cells depends on dynamin, cholesterol, and cellular factors associated with macropinocytosis.
J Virol
; 87(16): 8884-95, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23740983
12.
SISH/CISH or qPCR as alternative techniques to FISH for determination of HER2 amplification status on breast tumors core needle biopsies: a multicenter experience based on 840 cases.
BMC Cancer
; 13: 351, 2013 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23875536
13.
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
J Med Genet
; 49(10): 609-17, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22962691
14.
Validation of the Clinical Use of GIScar, an Academic-developed Genomic Instability Score Predicting Sensitivity to Maintenance Olaparib for Ovarian Cancer.
Clin Cancer Res
; 29(21): 4419-4429, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37756555
15.
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
16.
Neutralizing antibody-resistant hepatitis C virus cell-to-cell transmission.
J Virol
; 85(1): 596-605, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20962076
17.
Expected benefits of topotecan combined with lapatinib in recurrent ovarian cancer according to biological profile: a phase 2 trial.
Int J Gynecol Cancer
; 22(9): 1483-8, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23027040
18.
Outcomes of Patients with Metastatic Castration-Resistant Prostate Cancer According to Somatic Damage DNA Repair Gene Alterations.
Curr Oncol
; 29(4): 2776-2791, 2022 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35448200
19.
Monoclonal anti-claudin 1 antibodies prevent hepatitis C virus infection of primary human hepatocytes.
Gastroenterology
; 139(3): 953-64, 964.e1-4, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20685314
20.
Hepatitis C virus infection of neuroepithelioma cell lines.
Gastroenterology
; 139(4): 1365-74, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20538002